Saturday, 29 July 2017

Blogging v/s parents- the paradox.

My entry into this world of blogging was certainly not a well planned decision, rather I started as an amateur. During school days, though I had a passion of writing, my interest was lost in subject notes which I carried from school to coaching classes stacked one on other in my backpack. I was an alien to blogger till the day I signed up. My first post was appreciated by many critics and that gave me confidence to write more and more to satisfy my urge to pen down my thoughts. The sole purpose of this initiative was to share my ideas and to express myself in front of 7.2 billion people out there who are glued to internet all the time.

My parents are unaware of the fact that I author a blog, which creates many hurdles for me though, as I belong to a middle class conservative family with the views of poking your nose in books and studying late nights. Spending time on the internet is still a taboo for them maybe! I'm told not to use my phone much, neither I'm allowed to sit in front of the laptop for long hours and what else I'm not allowed to install WhatsApp! (It adds to distractions, as per my parents). So it's quite obvious for you to understand now how difficultly I post every single article to present it in front of you. 'Difficultly' because whenever I try to type on my laptop or phone, someone site besides me constantly watching over my activities as I if was working on a plan to blow up my own house and they're making sure I don't succeed. I remember the day I tried to convince my dad regarding setting up a blog, he equivocated his point by saying rather than setting up a blog get your poetry and articles published in a newspaper or a magazine. I was ridiculed as fuck. I felt low, maybe I was not good at writing to impress my parents or maybe I could never succeed. Somehow I overcame this stigmatic situation, thanks to a dear friend who kept me aware on the knick-knacks of blogging.

And withing one and a half month of starting, I signed up for Adsense, the dream of every blogger.
But still I suffer from the dilemma of telling my parents about this venture or not. Paradoxically, I'm not offending their views but I'm following my heart, I'm doing what I really want to do. But I don't know how I'm gonna convince them about this.

Your kind advices would be highly appreciated.
Thanks.

Iceland knows how to stop teen substance abuse, but the rest of the world isn't listening.


Iceland knows how to stop teen substance abuse but the rest of the world isn’t listening

In Iceland, teenage smoking, drinking and drug use have been radically cut in the past 20 years. Emma Young finds out how they did it, and why other countries won’t follow suit.

Listen to or download an audiobook of this story on SoundCloud and iTunes.

 


It’s a little before three on a sunny Friday afternoon and Laugardalur Park, near central Reykjavik, looks practically deserted. There’s an occasional adult with a pushchair, but the park’s surrounded by apartment blocks and houses, and school’s out – so where are all the kids?

Walking with me are Gudberg Jónsson, a local psychologist, and Harvey Milkman, an American psychology professor who teaches for part of the year at Reykjavik University. Twenty years ago, says Gudberg, Icelandic teens were among the heaviest-drinking youths in Europe. “You couldn’t walk the streets in downtown Reykjavik on a Friday night because it felt unsafe,” adds Milkman. “There were hordes of teenagers getting in-your-face drunk.”

We approach a large building. “And here we have the indoor skating,” says Gudberg.

A couple of minutes ago, we passed two halls dedicated to badminton and ping pong. Here in the park, there’s also an athletics track, a geothermally heated swimming pool and – at last – some visible kids, excitedly playing football on an artificial pitch.

Young people aren’t hanging out in the park right now, Gudberg explains, because they’re in after-school classes in these facilities, or in clubs for music, dance or art. Or they might be on outings with their parents.

Today, Iceland tops the European table for the cleanest-living teens. The percentage of 15- and 16-year-olds who had been drunk in the previous month plummeted from 42 per cent in 1998 to 5 per cent in 2016. The percentage who have ever used cannabis is down from 17 per cent to 7 per cent. Those smoking cigarettes every day fell from 23 per cent to just 3 per cent.

© Dave Imms

The way the country has achieved this turnaround has been both radical and evidence-based, but it has relied a lot on what might be termed enforced common sense. “This is the most remarkably intense and profound study of stress in the lives of teenagers that I have ever seen,” says Milkman. “I’m just so impressed by how well it is working.”

If it was adopted in other countries, Milkman argues, the Icelandic model could benefit the general psychological and physical wellbeing of millions of kids, not to mention the coffers of healthcare agencies and broader society. It’s a big if.


“I was in the eye of the storm of the drug revolution,” Milkman explains over tea in his apartment in Reykjavik. In the early 1970s, when he was doing an internship at the Bellevue Psychiatric Hospital in New York City, “LSD was already in, and a lot of people were smoking marijuana. And there was a lot of interest in why people took certain drugs.”

Milkman’s doctoral dissertation concluded that people would choose either heroin or amphetamines depending on how they liked to deal with stress. Heroin users wanted to numb themselves; amphetamine users wanted to actively confront it. After this work was published, he was among a group of researchers drafted by the US National Institute on Drug Abuse to answer questions such as: why do people start using drugs? Why do they continue? When do they reach a threshold to abuse? When do they stop? And when do they relapse?

“Any college kid could say: why do they start? Well, there’s availability, they’re risk-takers, alienation, maybe some depression,” he says. “But why do they continue? So I got to the question about the threshold for abuse and the lights went on – that’s when I had my version of the ‘aha’ experience: they could be on the threshold for abuse before they even took the drug, because it was their style of coping that they were abusing.”

At Metropolitan State College of Denver, Milkman was instrumental in developing the idea that people were getting addicted to changes in brain chemistry. Kids who were “active confronters” were after a rush – they’d get it by stealing hubcaps and radios and later cars, or through stimulant drugs. Alcohol also alters brain chemistry, of course. It’s a sedative but it sedates the brain’s control first, which can remove inhibitions and, in limited doses, reduce anxiety.

“People can get addicted to drink, cars, money, sex, calories, cocaine – whatever,” says Milkman. “The idea of behavioural addiction became our trademark.”

This idea spawned another: “Why not orchestrate a social movement around natural highs: around people getting high on their own brain chemistry – because it seems obvious to me that people want to change their consciousness – without the deleterious effects of drugs?”

By 1992, his team in Denver had won a $1.2 million government grant to form Project Self-Discovery, which offered teenagers natural-high alternatives to drugs and crime. They got referrals from teachers, school nurses and counsellors, taking in kids from the age of 14 who didn’t see themselves as needing treatment but who had problems with drugs or petty crime.

“We didn’t say to them, you’re coming in for treatment. We said, we’ll teach you anything you want to learn: music, dance, hip hop, art, martial arts.” The idea was that these different classes could provide a variety of alterations in the kids’ brain chemistry, and give them what they needed to cope better with life: some might crave an experience that could help reduce anxiety, others may be after a rush.

At the same time, the recruits got life-skills training, which focused on improving their thoughts about themselves and their lives, and the way they interacted with other people. “The main principle was that drug education doesn’t work because nobody pays attention to it. What is needed are the life skills to act on that information,” Milkman says. Kids were told it was a three-month programme. Some stayed five years.

In 1991, Milkman was invited to Iceland to talk about this work, his findings and ideas. He became a consultant to the first residential drug treatment centre for adolescents in Iceland, in a town called Tindar. “It was designed around the idea of giving kids better things to do,” he explains. It was here that he met Gudberg, who was then a psychology undergraduate and a volunteer at Tindar. They have been close friends ever since.

Milkman started coming regularly to Iceland and giving talks. These talks, and Tindar, attracted the attention of a young researcher at the University of Iceland, called Inga Dóra Sigfúsdóttir. She wondered: what if you could use healthy alternatives to drugs and alcohol as part of a programme not to treat kids with problems, but to stop kids drinking or taking drugs in the first place? 


© Dave Imms

Have you ever tried alcohol? If so, when did you last have a drink? Have you ever been drunk? Have you tried cigarettes? If so, how often do you smoke? How much time do you spend with your parents? Do you have a close relationship with your parents? What kind of activities do you take part in?

In 1992, 14-, 15- and 16-year-olds in every school in Iceland filled in a questionnaire with these kinds of questions. This process was then repeated in 1995 and 1997.

The results of these surveys were alarming. Nationally, almost 25 per cent were smoking every day, over 40 per cent had got drunk in the past month. But when the team drilled right down into the data, they could identify precisely which schools had the worst problems – and which had the least. Their analysis revealed clear differences between the lives of kids who took up drinking, smoking and other drugs, and those who didn’t. A few factors emerged as strongly protective: participation in organised activities – especially sport – three or four times a week, total time spent with parents during the week, feeling cared about at school, and not being outdoors in the late evenings.

“At that time, there had been all kinds of substance prevention efforts and programmes,” says Inga Dóra, who was a research assistant on the surveys. “Mostly they were built on education.” Kids were being warned about the dangers of drink and drugs, but, as Milkman had observed in the US, these programmes were not working. “We wanted to come up with a different approach.”

The mayor of Reykjavik, too, was interested in trying something new, and many parents felt the same, adds Jón Sigfússon, Inga Dóra’s colleague and brother. Jón had young daughters at the time and joined her new Icelandic Centre for Social Research and Analysis when it was set up in 1999. “The situation was bad,” he says. “It was obvious something had to be done.”

Using the survey data and insights from research including Milkman’s, a new national plan was gradually introduced. It was called Youth in Iceland.

Laws were changed. It became illegal to buy tobacco under the age of 18 and alcohol under the age of 20, and tobacco and alcohol advertising was banned. Links between parents and school were strengthened through parental organisations which by law had to be established in every school, along with school councils with parent representatives. Parents were encouraged to attend talks on the importance of spending a quantity of time with their children rather than occasional “quality time”, on talking to their kids about their lives, on knowing who their kids were friends with, and on keeping their children home in the evenings.

A law was also passed prohibiting children aged between 13 and 16 from being outside after 10pm in winter and midnight in summer. It’s still in effect today.

Home and School, the national umbrella body for parental organisations, introduced agreements for parents to sign. The content varies depending on the age group, and individual organisations can decide what they want to include. For kids aged 13 and up, parents can pledge to follow all the recommendations, and also, for example, not to allow their kids to have unsupervised parties, not to buy alcohol for minors, and to keep an eye on the wellbeing of other children.

These agreements educate parents but also help to strengthen their authority in the home, argues Hrefna Sigurjónsdóttir, director of Home and School. “Then it becomes harder to use the oldest excuse in the book: ‘But everybody else can!’”

State funding was increased for organised sport, music, art, dance and other clubs, to give kids alternative ways to feel part of a group, and to feel good, rather than through using alcohol and drugs, and kids from low-income families received help to take part. In Reykjavik, for instance, where more than a third of the country’s population lives, a Leisure Card gives families 35,000 krona (£250) per year per child to pay for recreational activities.

Crucially, the surveys have continued. Each year, almost every child in Iceland completes one. This means up-to-date, reliable data is always available.

Between 1997 and 2012, the percentage of kids aged 15 and 16 who reported often or almost always spending time with their parents on weekdays doubled – from 23 per cent to 46 per cent – and the percentage who participated in organised sports at least four times a week increased from 24 per cent to 42 per cent. Meanwhile, cigarette smoking, drinking and cannabis use in this age group plummeted.

© Dave Imms

“Although this cannot be shown in the form of a causal relationship – which is a good example of why primary prevention methods are sometimes hard to sell to scientists – the trend is very clear,” notes Álfgeir Kristjánsson, who worked on the data and is now at the West Virginia University School of Public Health in the US. “Protective factors have gone up, risk factors down, and substance use has gone down – and more consistently in Iceland than in any other European country.”


§


Jón Sigfússon apologies for being just a couple of minutes late. “I was on a crisis call!” He prefers not to say precisely to where, but it was to one of the cities elsewhere in the world that has now adopted, in part, the Youth in Iceland ideas.

Youth in Europe, which Jón heads, began in 2006 after the already-remarkable Icelandic data was presented at a European Cities Against Drugs meeting and, he recalls, “People asked: what are you doing?”

Participation in Youth in Europe is at a municipal level rather than being led by national governments. In the first year, there were eight municipalities. To date, 35 have taken part, across 17 countries, varying from some areas where just a few schools take part to Tarragona in Spain, where 4,200 15-year-olds are involved. The method is always the same: Jón and his team talk to local officials and devise a questionnaire with the same core questions as those used in Iceland plus any locally tailored extras. For example, online gambling has recently emerged as a big problem in a few areas, and local officials want to know if it’s linked to other risky behaviour.

Just two months after the questionnaires are returned to Iceland, the team sends back an initial report with the results, plus information on how they compare with other participating regions. “We always say that, like vegetables, information has to be fresh,” says Jón. “If you bring these findings a year later, people would say, Oh, this was a long time ago and maybe things have changed…” As well as fresh, it has to be local so that schools, parents and officials can see exactly what problems exist in which areas.

The team has analysed 99,000 questionnaires from places as far afield as the Faroe Islands, Malta and Romania – as well as South Korea and, very recently, Nairobi and Guinea-Bissau. Broadly, the results show that when it comes to teen substance use, the same protective and risk factors identified in Iceland apply everywhere. There are some differences: in one location (in a country “on the Baltic Sea”), participation in organised sport actually emerged as a risk factor. Further investigation revealed that this was because young ex-military men who were keen on muscle-building drugs, drinking and smoking were running the clubs. Here, then, was a well-defined, immediate, local problem that could be addressed.

While Jón and his team offer advice and information on what has been found to work in Iceland, it’s up to individual communities to decide what to do in the light of their results. Occasionally, they do nothing. One predominantly Muslim country, which he prefers not to identify, rejected the data because it revealed an unpalatable level of alcohol consumption. In other cities – such as the origin of Jón’s “crisis call” – there is an openness to the data and there is money, but he has observed that it can be much more difficult to secure and maintain funding for health prevention strategies than for treatments.

No other country has made changes on the scale seen in Iceland. When asked if anyone has copied the laws to keep children indoors in the evening, Jón smiles. “Even Sweden laughs and calls it the child curfew!”

© Dave Imms

Across Europe, rates of teen alcohol and drug use have generally improved over the past 20 years, though nowhere as dramatically as in Iceland, and the reasons for improvements are not necessarily linked to strategies that foster teen wellbeing. In the UK, for example, the fact that teens are now spending more time at home interacting online rather than in person could be one of the major reasons for the drop in alcohol consumption.

But Kaunas, in Lithuania, is one example of what can happen through active intervention. Since 2006, the city has administered the questionnaires five times, and schools, parents, healthcare organisations, churches, the police and social services have come together to try to improve kids’ wellbeing and curb substance use. For instance, parents get eight or nine free parenting sessions each year, and a new programme provides extra funding for public institutions and NGOs working in mental health promotion and stress management. In 2015, the city started offering free sports activities on Mondays, Wednesdays and Fridays, and there are plans to introduce a free ride service for low-income families, to help kids who don’t live close to the facilities to attend.

Between 2006 and 2014, the number of 15- and 16-year-olds in Kaunas who reported getting drunk in the past 30 days fell by about a quarter, and daily smoking fell by more than 30 per cent.

At the moment, participation in Youth in Europe is a haphazard affair, and the team in Iceland is small. Jón would like to see a centralised body with its own dedicated funding to focus on the expansion of Youth in Europe. “Even though we have been doing this for ten years, it is not our full, main job. We would like somebody to copy this and maintain it all over Europe,” he says. “And why only Europe?”


§


After our walk through Laugardalur Park, Gudberg Jónsson invites us back to his home. Outside, in the garden, his two elder sons, Jón Konrád, who’s 21, and Birgir Ísar, who’s 15, talk to me about drinking and smoking. Jón does drink alcohol, but Birgir says he doesn’t know anyone at his school who smokes or drinks. We also talk about football training: Birgir trains five or six times a week; Jón, who is in his first year of a business degree at the University of Iceland, trains five times a week. They both started regular after-school training when they were six years old.

“We have all these instruments at home,” their father told me earlier. “We tried to get them into music. We used to have a horse. My wife is really into horse riding. But it didn’t happen. In the end, soccer was their selection.”

Did it ever feel like too much? Was there pressure to train when they’d rather have been doing something else? “No, we just had fun playing football,” says Birgir. Jón adds, “We tried it and got used to it, and so we kept on doing it.”

© Dave Imms

It’s not all they do. While Gudberg and his wife Thórunn don’t consciously plan for a certain number of hours each week with their three sons, they do try to take them regularly to the movies, the theatre, restaurants, hiking, fishing and, when Iceland’s sheep are brought down from the highlands each September, even on family sheep-herding outings.

Jón and Birgir may be exceptionally keen on football, and talented (Jón has been offered a soccer scholarship to the Metropolitan State University of Denver, and a few weeks after we meet, Birgir is selected to play for the under-17 national team). But could the significant rise in the percentage of kids who take part in organised sport four or more times a week be bringing benefits beyond raising healthier children?

Could it, for instance, have anything to do with Iceland’s crushing defeat of England in the Euro 2016 football championship? When asked, Inga Dóra Sigfúsdóttir, who was voted Woman of the Year in Iceland in 2016, smiles: “There is also the success in music, like Of Monsters and Men [an indie folk-pop group from Reykjavik]. These are young people who have been pushed into organised work. Some people have thanked me,” she says, with a wink.

Elsewhere, cities that have joined Youth in Europe are reporting other benefits. In Bucharest, for example, the rate of teen suicides is dropping alongside use of drink and drugs. In Kaunas, the number of children committing crimes dropped by a third between 2014 and 2015.

As Inga Dóra says: “We learned through the studies that we need to create circumstances in which kids can lead healthy lives, and they do not need to use substances, because life is fun, and they have plenty to do – and they are supported by parents who will spend time with them.”

When it comes down to it, the messages – if not necessarily the methods – are straightforward. And when he looks at the results, Harvey Milkman thinks of his own country, the US. Could the Youth in Iceland model work there, too? 


§


Three hundred and twenty-five million people versus 330,000. Thirty-three thousand gangs versus virtually none. Around 1.3 million homeless young people versus a handful.

Clearly, the US has challenges that Iceland does not. But the data from other parts of Europe, including cities such as Bucharest with major social problems and relative poverty, shows that the Icelandic model can work in very different cultures, Milkman argues. And the need in the US is high: underage drinking accounts for about 11 per cent of all alcohol consumed nationwide, and excessive drinking causes more than 4,300 deaths among under-21 year olds every year.

A national programme along the lines of Youth in Iceland is unlikely to be introduced in the US, however. One major obstacle is that while in Iceland there is long-term commitment to the national project, community health programmes in the US are usually funded by short-term grants.

Milkman has learned the hard way that even widely applauded, gold-standard youth programmes aren’t always expanded, or even sustained. “With Project Self-Discovery, it seemed like we had the best programme in the world,” he says. “I was invited to the White House twice. It won national awards. I was thinking: this will be replicated in every town and village. But it wasn’t.”

He thinks that is because you can’t prescribe a generic model to every community because they don’t all have the same resources. Any move towards giving kids in the US the opportunities to participate in the kinds of activities now common in Iceland, and so helping them to stay away from alcohol and other drugs, will depend on building on what already exists. “You have to rely on the resources of the community,” he says.

His colleague Álfgeir Kristjánsson is introducing the Icelandic ideas to the state of West Virginia. Surveys are being given to kids at several middle and high schools in the state, and a community coordinator will help get the results out to parents and anyone else who could use them to help local kids. But it might be difficult to achieve the kinds of results seen in Iceland, he concedes.

Short-termism also impedes effective prevention strategies in the UK, says Michael O’Toole, CEO of Mentor, a charity that works to reduce alcohol and drug misuse in children and young people. Here, too, there is no national coordinated alcohol and drug prevention programme. It’s generally left to local authorities or to schools, which can often mean kids are simply given information about the dangers of drugs and alcohol – a strategy that, he agrees, evidence shows does not work.

O’Toole fully endorses the Icelandic focus on parents, school and the community all coming together to help support kids, and on parents or carers being engaged in young people’s lives. Improving support for kids could help in so many ways, he stresses. Even when it comes just to alcohol and smoking, there is plenty of data to show that the older a child is when they have their first drink or cigarette, the healthier they will be over the course of their life.

© Dave Imms

But not all the strategies would be acceptable in the UK – the child curfews being one, parental walks around neighbourhoods to identify children breaking the rules perhaps another. And a trial run by Mentor in Brighton that involved inviting parents into schools for workshops found that it was difficult to get them engaged.

Public wariness and an unwillingness to engage will be challenges wherever the Icelandic methods are proposed, thinks Milkman, and go to the heart of the balance of responsibility between states and citizens. “How much control do you want the government to have over what happens with your kids? Is this too much of the government meddling in how people live their lives?”

In Iceland, the relationship between people and the state has allowed an effective national programme to cut the rates of teenagers smoking and drinking to excess – and, in the process, brought families closer and helped kids to become healthier in all kinds of ways. Will no other country decide these benefits are worth the costs? 


Listen to or download an audiobook of this story on SoundCloud and iTunes.

 


It’s a little before three on a sunny Friday afternoon and Laugardalur Park, near central Reykjavik, looks practically deserted. There’s an occasional adult with a pushchair, but the park’s surrounded by apartment blocks and houses, and school’s out – so where are all the kids?

Walking with me are Gudberg Jónsson, a local psychologist, and Harvey Milkman, an American psychology professor who teaches for part of the year at Reykjavik University. Twenty years ago, says Gudberg, Icelandic teens were among the heaviest-drinking youths in Europe. “You couldn’t walk the streets in downtown Reykjavik on a Friday night because it felt unsafe,” adds Milkman. “There were hordes of teenagers getting in-your-face drunk.”

We approach a large building. “And here we have the indoor skating,” says Gudberg.

A couple of minutes ago, we passed two halls dedicated to badminton and ping pong. Here in the park, there’s also an athletics track, a geothermally heated swimming pool and – at last – some visible kids, excitedly playing football on an artificial pitch.

Young people aren’t hanging out in the park right now, Gudberg explains, because they’re in after-school classes in these facilities, or in clubs for music, dance or art. Or they might be on outings with their parents.

Today, Iceland tops the European table for the cleanest-living teens. The percentage of 15- and 16-year-olds who had been drunk in the previous month plummeted from 42 per cent in 1998 to 5 per cent in 2016. The percentage who have ever used cannabis is down from 17 per cent to 7 per cent. Those smoking cigarettes every day fell from 23 per cent to just 3 per cent.

© Dave Imms

The way the country has achieved this turnaround has been both radical and evidence-based, but it has relied a lot on what might be termed enforced common sense. “This is the most remarkably intense and profound study of stress in the lives of teenagers that I have ever seen,” says Milkman. “I’m just so impressed by how well it is working.”

If it was adopted in other countries, Milkman argues, the Icelandic model could benefit the general psychological and physical wellbeing of millions of kids, not to mention the coffers of healthcare agencies and broader society. It’s a big if.


“I was in the eye of the storm of the drug revolution,” Milkman explains over tea in his apartment in Reykjavik. In the early 1970s, when he was doing an internship at the Bellevue Psychiatric Hospital in New York City, “LSD was already in, and a lot of people were smoking marijuana. And there was a lot of interest in why people took certain drugs.”

Milkman’s doctoral dissertation concluded that people would choose either heroin or amphetamines depending on how they liked to deal with stress. Heroin users wanted to numb themselves; amphetamine users wanted to actively confront it. After this work was published, he was among a group of researchers drafted by the US National Institute on Drug Abuse to answer questions such as: why do people start using drugs? Why do they continue? When do they reach a threshold to abuse? When do they stop? And when do they relapse?

“Any college kid could say: why do they start? Well, there’s availability, they’re risk-takers, alienation, maybe some depression,” he says. “But why do they continue? So I got to the question about the threshold for abuse and the lights went on – that’s when I had my version of the ‘aha’ experience: they could be on the threshold for abuse before they even took the drug, because it was their style of coping that they were abusing.”

At Metropolitan State College of Denver, Milkman was instrumental in developing the idea that people were getting addicted to changes in brain chemistry. Kids who were “active confronters” were after a rush – they’d get it by stealing hubcaps and radios and later cars, or through stimulant drugs. Alcohol also alters brain chemistry, of course. It’s a sedative but it sedates the brain’s control first, which can remove inhibitions and, in limited doses, reduce anxiety.

“People can get addicted to drink, cars, money, sex, calories, cocaine – whatever,” says Milkman. “The idea of behavioural addiction became our trademark.”

This idea spawned another: “Why not orchestrate a social movement around natural highs: around people getting high on their own brain chemistry – because it seems obvious to me that people want to change their consciousness – without the deleterious effects of drugs?”

By 1992, his team in Denver had won a $1.2 million government grant to form Project Self-Discovery, which offered teenagers natural-high alternatives to drugs and crime. They got referrals from teachers, school nurses and counsellors, taking in kids from the age of 14 who didn’t see themselves as needing treatment but who had problems with drugs or petty crime.

“We didn’t say to them, you’re coming in for treatment. We said, we’ll teach you anything you want to learn: music, dance, hip hop, art, martial arts.” The idea was that these different classes could provide a variety of alterations in the kids’ brain chemistry, and give them what they needed to cope better with life: some might crave an experience that could help reduce anxiety, others may be after a rush.

At the same time, the recruits got life-skills training, which focused on improving their thoughts about themselves and their lives, and the way they interacted with other people. “The main principle was that drug education doesn’t work because nobody pays attention to it. What is needed are the life skills to act on that information,” Milkman says. Kids were told it was a three-month programme. Some stayed five years.

In 1991, Milkman was invited to Iceland to talk about this work, his findings and ideas. He became a consultant to the first residential drug treatment centre for adolescents in Iceland, in a town called Tindar. “It was designed around the idea of giving kids better things to do,” he explains. It was here that he met Gudberg, who was then a psychology undergraduate and a volunteer at Tindar. They have been close friends ever since.

Milkman started coming regularly to Iceland and giving talks. These talks, and Tindar, attracted the attention of a young researcher at the University of Iceland, called Inga Dóra Sigfúsdóttir. She wondered: what if you could use healthy alternatives to drugs and alcohol as part of a programme not to treat kids with problems, but to stop kids drinking or taking drugs in the first place? 


© Dave Imms

Have you ever tried alcohol? If so, when did you last have a drink? Have you ever been drunk? Have you tried cigarettes? If so, how often do you smoke? How much time do you spend with your parents? Do you have a close relationship with your parents? What kind of activities do you take part in?

In 1992, 14-, 15- and 16-year-olds in every school in Iceland filled in a questionnaire with these kinds of questions. This process was then repeated in 1995 and 1997.

The results of these surveys were alarming. Nationally, almost 25 per cent were smoking every day, over 40 per cent had got drunk in the past month. But when the team drilled right down into the data, they could identify precisely which schools had the worst problems – and which had the least. Their analysis revealed clear differences between the lives of kids who took up drinking, smoking and other drugs, and those who didn’t. A few factors emerged as strongly protective: participation in organised activities – especially sport – three or four times a week, total time spent with parents during the week, feeling cared about at school, and not being outdoors in the late evenings.

“At that time, there had been all kinds of substance prevention efforts and programmes,” says Inga Dóra, who was a research assistant on the surveys. “Mostly they were built on education.” Kids were being warned about the dangers of drink and drugs, but, as Milkman had observed in the US, these programmes were not working. “We wanted to come up with a different approach.”

The mayor of Reykjavik, too, was interested in trying something new, and many parents felt the same, adds Jón Sigfússon, Inga Dóra’s colleague and brother. Jón had young daughters at the time and joined her new Icelandic Centre for Social Research and Analysis when it was set up in 1999. “The situation was bad,” he says. “It was obvious something had to be done.”

Using the survey data and insights from research including Milkman’s, a new national plan was gradually introduced. It was called Youth in Iceland.

Laws were changed. It became illegal to buy tobacco under the age of 18 and alcohol under the age of 20, and tobacco and alcohol advertising was banned. Links between parents and school were strengthened through parental organisations which by law had to be established in every school, along with school councils with parent representatives. Parents were encouraged to attend talks on the importance of spending a quantity of time with their children rather than occasional “quality time”, on talking to their kids about their lives, on knowing who their kids were friends with, and on keeping their children home in the evenings.

A law was also passed prohibiting children aged between 13 and 16 from being outside after 10pm in winter and midnight in summer. It’s still in effect today.

Home and School, the national umbrella body for parental organisations, introduced agreements for parents to sign. The content varies depending on the age group, and individual organisations can decide what they want to include. For kids aged 13 and up, parents can pledge to follow all the recommendations, and also, for example, not to allow their kids to have unsupervised parties, not to buy alcohol for minors, and to keep an eye on the wellbeing of other children.

These agreements educate parents but also help to strengthen their authority in the home, argues Hrefna Sigurjónsdóttir, director of Home and School. “Then it becomes harder to use the oldest excuse in the book: ‘But everybody else can!’”

State funding was increased for organised sport, music, art, dance and other clubs, to give kids alternative ways to feel part of a group, and to feel good, rather than through using alcohol and drugs, and kids from low-income families received help to take part. In Reykjavik, for instance, where more than a third of the country’s population lives, a Leisure Card gives families 35,000 krona (£250) per year per child to pay for recreational activities.

Crucially, the surveys have continued. Each year, almost every child in Iceland completes one. This means up-to-date, reliable data is always available.

Between 1997 and 2012, the percentage of kids aged 15 and 16 who reported often or almost always spending time with their parents on weekdays doubled – from 23 per cent to 46 per cent – and the percentage who participated in organised sports at least four times a week increased from 24 per cent to 42 per cent. Meanwhile, cigarette smoking, drinking and cannabis use in this age group plummeted.

© Dave Imms

“Although this cannot be shown in the form of a causal relationship – which is a good example of why primary prevention methods are sometimes hard to sell to scientists – the trend is very clear,” notes Álfgeir Kristjánsson, who worked on the data and is now at the West Virginia University School of Public Health in the US. “Protective factors have gone up, risk factors down, and substance use has gone down – and more consistently in Iceland than in any other European country.”


§


Jón Sigfússon apologies for being just a couple of minutes late. “I was on a crisis call!” He prefers not to say precisely to where, but it was to one of the cities elsewhere in the world that has now adopted, in part, the Youth in Iceland ideas.

Youth in Europe, which Jón heads, began in 2006 after the already-remarkable Icelandic data was presented at a European Cities Against Drugs meeting and, he recalls, “People asked: what are you doing?”

Participation in Youth in Europe is at a municipal level rather than being led by national governments. In the first year, there were eight municipalities. To date, 35 have taken part, across 17 countries, varying from some areas where just a few schools take part to Tarragona in Spain, where 4,200 15-year-olds are involved. The method is always the same: Jón and his team talk to local officials and devise a questionnaire with the same core questions as those used in Iceland plus any locally tailored extras. For example, online gambling has recently emerged as a big problem in a few areas, and local officials want to know if it’s linked to other risky behaviour.

Just two months after the questionnaires are returned to Iceland, the team sends back an initial report with the results, plus information on how they compare with other participating regions. “We always say that, like vegetables, information has to be fresh,” says Jón. “If you bring these findings a year later, people would say, Oh, this was a long time ago and maybe things have changed…” As well as fresh, it has to be local so that schools, parents and officials can see exactly what problems exist in which areas.

The team has analysed 99,000 questionnaires from places as far afield as the Faroe Islands, Malta and Romania – as well as South Korea and, very recently, Nairobi and Guinea-Bissau. Broadly, the results show that when it comes to teen substance use, the same protective and risk factors identified in Iceland apply everywhere. There are some differences: in one location (in a country “on the Baltic Sea”), participation in organised sport actually emerged as a risk factor. Further investigation revealed that this was because young ex-military men who were keen on muscle-building drugs, drinking and smoking were running the clubs. Here, then, was a well-defined, immediate, local problem that could be addressed.

While Jón and his team offer advice and information on what has been found to work in Iceland, it’s up to individual communities to decide what to do in the light of their results. Occasionally, they do nothing. One predominantly Muslim country, which he prefers not to identify, rejected the data because it revealed an unpalatable level of alcohol consumption. In other cities – such as the origin of Jón’s “crisis call” – there is an openness to the data and there is money, but he has observed that it can be much more difficult to secure and maintain funding for health prevention strategies than for treatments.

No other country has made changes on the scale seen in Iceland. When asked if anyone has copied the laws to keep children indoors in the evening, Jón smiles. “Even Sweden laughs and calls it the child curfew!”

© Dave Imms

Across Europe, rates of teen alcohol and drug use have generally improved over the past 20 years, though nowhere as dramatically as in Iceland, and the reasons for improvements are not necessarily linked to strategies that foster teen wellbeing. In the UK, for example, the fact that teens are now spending more time at home interacting online rather than in person could be one of the major reasons for the drop in alcohol consumption.

But Kaunas, in Lithuania, is one example of what can happen through active intervention. Since 2006, the city has administered the questionnaires five times, and schools, parents, healthcare organisations, churches, the police and social services have come together to try to improve kids’ wellbeing and curb substance use. For instance, parents get eight or nine free parenting sessions each year, and a new programme provides extra funding for public institutions and NGOs working in mental health promotion and stress management. In 2015, the city started offering free sports activities on Mondays, Wednesdays and Fridays, and there are plans to introduce a free ride service for low-income families, to help kids who don’t live close to the facilities to attend.

Between 2006 and 2014, the number of 15- and 16-year-olds in Kaunas who reported getting drunk in the past 30 days fell by about a quarter, and daily smoking fell by more than 30 per cent.

At the moment, participation in Youth in Europe is a haphazard affair, and the team in Iceland is small. Jón would like to see a centralised body with its own dedicated funding to focus on the expansion of Youth in Europe. “Even though we have been doing this for ten years, it is not our full, main job. We would like somebody to copy this and maintain it all over Europe,” he says. “And why only Europe?”


§


After our walk through Laugardalur Park, Gudberg Jónsson invites us back to his home. Outside, in the garden, his two elder sons, Jón Konrád, who’s 21, and Birgir Ísar, who’s 15, talk to me about drinking and smoking. Jón does drink alcohol, but Birgir says he doesn’t know anyone at his school who smokes or drinks. We also talk about football training: Birgir trains five or six times a week; Jón, who is in his first year of a business degree at the University of Iceland, trains five times a week. They both started regular after-school training when they were six years old.

“We have all these instruments at home,” their father told me earlier. “We tried to get them into music. We used to have a horse. My wife is really into horse riding. But it didn’t happen. In the end, soccer was their selection.”

Did it ever feel like too much? Was there pressure to train when they’d rather have been doing something else? “No, we just had fun playing football,” says Birgir. Jón adds, “We tried it and got used to it, and so we kept on doing it.”

© Dave Imms

It’s not all they do. While Gudberg and his wife Thórunn don’t consciously plan for a certain number of hours each week with their three sons, they do try to take them regularly to the movies, the theatre, restaurants, hiking, fishing and, when Iceland’s sheep are brought down from the highlands each September, even on family sheep-herding outings.

Jón and Birgir may be exceptionally keen on football, and talented (Jón has been offered a soccer scholarship to the Metropolitan State University of Denver, and a few weeks after we meet, Birgir is selected to play for the under-17 national team). But could the significant rise in the percentage of kids who take part in organised sport four or more times a week be bringing benefits beyond raising healthier children?

Could it, for instance, have anything to do with Iceland’s crushing defeat of England in the Euro 2016 football championship? When asked, Inga Dóra Sigfúsdóttir, who was voted Woman of the Year in Iceland in 2016, smiles: “There is also the success in music, like Of Monsters and Men [an indie folk-pop group from Reykjavik]. These are young people who have been pushed into organised work. Some people have thanked me,” she says, with a wink.

Elsewhere, cities that have joined Youth in Europe are reporting other benefits. In Bucharest, for example, the rate of teen suicides is dropping alongside use of drink and drugs. In Kaunas, the number of children committing crimes dropped by a third between 2014 and 2015.

As Inga Dóra says: “We learned through the studies that we need to create circumstances in which kids can lead healthy lives, and they do not need to use substances, because life is fun, and they have plenty to do – and they are supported by parents who will spend time with them.”

When it comes down to it, the messages – if not necessarily the methods – are straightforward. And when he looks at the results, Harvey Milkman thinks of his own country, the US. Could the Youth in Iceland model work there, too? 


§


Three hundred and twenty-five million people versus 330,000. Thirty-three thousand gangs versus virtually none. Around 1.3 million homeless young people versus a handful.

Clearly, the US has challenges that Iceland does not. But the data from other parts of Europe, including cities such as Bucharest with major social problems and relative poverty, shows that the Icelandic model can work in very different cultures, Milkman argues. And the need in the US is high: underage drinking accounts for about 11 per cent of all alcohol consumed nationwide, and excessive drinking causes more than 4,300 deaths among under-21 year olds every year.

A national programme along the lines of Youth in Iceland is unlikely to be introduced in the US, however. One major obstacle is that while in Iceland there is long-term commitment to the national project, community health programmes in the US are usually funded by short-term grants.

Milkman has learned the hard way that even widely applauded, gold-standard youth programmes aren’t always expanded, or even sustained. “With Project Self-Discovery, it seemed like we had the best programme in the world,” he says. “I was invited to the White House twice. It won national awards. I was thinking: this will be replicated in every town and village. But it wasn’t.”

He thinks that is because you can’t prescribe a generic model to every community because they don’t all have the same resources. Any move towards giving kids in the US the opportunities to participate in the kinds of activities now common in Iceland, and so helping them to stay away from alcohol and other drugs, will depend on building on what already exists. “You have to rely on the resources of the community,” he says.

His colleague Álfgeir Kristjánsson is introducing the Icelandic ideas to the state of West Virginia. Surveys are being given to kids at several middle and high schools in the state, and a community coordinator will help get the results out to parents and anyone else who could use them to help local kids. But it might be difficult to achieve the kinds of results seen in Iceland, he concedes.

Short-termism also impedes effective prevention strategies in the UK, says Michael O’Toole, CEO of Mentor, a charity that works to reduce alcohol and drug misuse in children and young people. Here, too, there is no national coordinated alcohol and drug prevention programme. It’s generally left to local authorities or to schools, which can often mean kids are simply given information about the dangers of drugs and alcohol – a strategy that, he agrees, evidence shows does not work.

O’Toole fully endorses the Icelandic focus on parents, school and the community all coming together to help support kids, and on parents or carers being engaged in young people’s lives. Improving support for kids could help in so many ways, he stresses. Even when it comes just to alcohol and smoking, there is plenty of data to show that the older a child is when they have their first drink or cigarette, the healthier they will be over the course of their life.

© Dave Imms

But not all the strategies would be acceptable in the UK – the child curfews being one, parental walks around neighbourhoods to identify children breaking the rules perhaps another. And a trial run by Mentor in Brighton that involved inviting parents into schools for workshops found that it was difficult to get them engaged.

Public wariness and an unwillingness to engage will be challenges wherever the Icelandic methods are proposed, thinks Milkman, and go to the heart of the balance of responsibility between states and citizens. “How much control do you want the government to have over what happens with your kids? Is this too much of the government meddling in how people live their lives?”

In Iceland, the relationship between people and the state has allowed an effective national programme to cut the rates of teenagers smoking and drinking to excess – and, in the process, brought families closer and helped kids to become healthier in all kinds of ways. Will no other country decide these benefits are worth the costs? 


This article first appeared on Mosaic and is republished here under a Creative Commons licence.

The uncertain future of genetic testing


The uncertain future of genetic testing

Bringing genetics into medicine leads to more accuracy, better diagnosis and personalised treatment – but not for all. Carrie Arnold meets families for whom gene testing has led only to unanswered questions.

AnneMarie Ciccarella, a fast-talking 57-year-old brunette with a more than a hint of a New York accent, thought she knew a lot about breast cancer. Her mother was diagnosed with the disease in 1987, and several other female relatives also developed it. When doctors found a suspicious lump in one of her breasts that turned out to be cancer, she immediately sought out testing to look for mutations in the two BRCA genes, which between them account for around 20 per cent of families with a strong history of breast cancer.

Ciccarella assumed her results would be positive. They weren’t. Instead, they identified only what’s known as a variant of unknown or uncertain significance (VUS) in both BRCA1 and BRCA2. Unlike pathogenic mutations that are known to cause disease or benign ones that don’t, these genetic variations just aren’t understood enough to know if they are involved or not.

“I thought you could have a mutated gene or not, and with all the cancer in my family, I believed I would carry a mutation. I didn’t know there was this huge third category,” she says. “I got no information – it felt like a huge waste of blood to get a giant question mark.”

Thousands of people have had their BRCA genes tested for increased genetic susceptibility to breast, ovarian, prostate and other cancers. About 5 per cent have learned that they carry a VUS. That number is even higher for other genes: in one study, almost 20 per cent of genetic tests returned a VUS result.





“That’s a lot of uncertainty,” says Robert Klitzman, a bioethicist at Columbia University in New York. People want genetic tests to be like pregnancy tests, he explains: “You’re either pregnant or you’re not. Instead, they’re more like a weather report.” And most people aren’t prepared to cope with the probabilities and uncertainties that entails.

When scientists surveyed a group of women one year after they received BRCA gene test results, the women whose results were uncertain or uninformative were feeling much more stress and anxiety than those whose results were clearly either pathogenic or benign. A follow-up study showed that the higher the risk an individual thought her result indicated, and the less tolerant she was of uncertainty, the more likely she was to experience serious long-term distress.

Even before her sequencing results came in, Ciccarella had decided on a bilateral mastectomy based on her family history. For her, the question of whether she would one day develop breast cancer had been answered, and in the worst possible way. But she still wanted information for her son and daughter so they could know whether they had inherited a genetic risk of cancer. Like a number of families, they are learning that genetic sequencing won’t deliver answers for everyone.


We all have tons of variations in our genes, most of which are extremely rare and, by the very nature of rarity, uninterpretable.

We are all mutants. The three billion pieces of DNA that make us who we are were long thought to be constant, chiselled in granite like a classical monument, with only tiny changes made here and there. Scientists used to believe that DNA mutations were largely harmful.

By the late 1990s and early 2000s, as the first sequences of the human genome came rolling in, researchers realised that their view of mutations was completely backwards. Instead of being rarities that almost inevitably harm health, mutations litter the human genome. The average human carries around 400 unique mutations, and most of us are none the worse because of them.

This challenged some basic tenets of genetics, as well as the ways that scientists and physicians interpreted genetic tests.

When Robert Resta, a genetic counsellor at the Swedish Medical Center in Seattle, first began examining genetic test results in the late 1980s, he could identify only chromosomal abnormalities or alterations of massive amounts of DNA. When other types of genetic tests were introduced, such as those for detecting the mutations in the CFTR gene that cause cystic fibrosis, interpretation was still reasonably straightforward. Because most of the people who had their CFTR gene sequenced showed clinical signs of cystic fibrosis, Resta could be reasonably confident that an observed mutation in that gene was the one that had led to the disease. In the past few years, however, the price of genetic sequencing has fallen dramatically, and doctors are increasingly requesting DNA testing earlier in the diagnostic process. As more data is gathered, the sheer number of mutations we all carry becomes more significant.

“It turns out mutations are the norm. You expect to find mutations in a gene. It’s a very different way of thinking about the human genome. If you don’t find a mutation, your machine is probably having technical difficulty,” Resta says.

When scientists test for mutations in large numbers of genes with a single test, known as a gene panel, they are virtually guaranteed to find at least one VUS, says Colleen Caleshu, a genetic counsellor at Stanford University’s Center for Inherited Cardiovascular Disease. “The more genes you look at, the more variation you’ll find,” she adds. “We all have tons of variations in our genes, most of which are extremely rare and, by the very nature of rarity, uninterpretable.” In short, there isn’t enough data to know what you are seeing.

© Catherine Losing

This grey area has only expanded as next-generation DNA sequencing has led to the growing use of gene panels, to look for mutations in a range of genes that may be related to a patient’s symptoms. Of the three possible results – pathogenic, benign, or unknown – pathogenic is the least common, says Resta. You’re much more likely to get uncertainty.

If interpreting genetic testing results is difficult for clinicians, it’s also tremendously hard for patients. Yvonne Bombard has spent the last several years of her career as a genomics health services researcher at St Michael’s Hospital in Toronto, working to understand how families make sense of genetic testing results.

“There’s very little research on the impact of uncertain results on families yet – the technology is just too new,” Bombard says.

A small study in Psycho-Oncology surveyed 24 women with breast or ovarian cancer who had received VUS results for their genetic testing. Many of them had a distorted perception of what those results meant. Although two-thirds correctly remembered three years later that the variants detected by the test were unclassified, 79 per cent interpreted the results as a higher genetic risk for developing cancer. One-third had also made significant medical changes in their lives based only on their test results, which Resta and Caleshu do not recommend.

Families of children with suspected genetic diseases have similar difficulties. Parents tend to interpret any variant that’s not classified ‘benign’ as being the cause of their child’s disease, explains Caleshu. But she appreciates how it’s hard not to do that, especially when families have been looking for answers for so long.

Families can feel let down by the medical establishment, who often seem to throw up their hands when a patient defies diagnosis, and in the absence of definitive answers it’s all too easy to believe that the genetic variants identified on the test must be what’s wrong. One of Caleshu’s main jobs is providing pre-test counselling so that patients understand the risks and the limitations of testing. She says her team have changed the way they present results, so that patients and doctors don’t read too much into a VUS. Even with the right genetic counselling, however, uncertainty can be agonising.


One place says one thing, one place says another, and I’m stuck in the middle with a daughter who just found a suspicious lump.

Ciccarella had watched her mother endure chemotherapy, and had undergone a similar gruelling regimen herself. If she could get genetic information that might help her children and any future generations to avoid that agony by using improved screening, reproductive planning and prophylactic mastectomies, then she was determined to make that happen.

She decided to get another lab to review the results of her genetic tests, and requested the data from the sequencing company, Myriad Genetics. They refused. Since they owned patents on these genes, no one else could have their proprietary genetic data.

So she followed with interest a lawsuit by the American Civil Liberties Union (ACLU) against Myriad’s genetic patent, hoping that if they won, she could get a second opinion on her unclassified variants after all. In 2013, the US Supreme Court found in favour of the ACLU, invalidating Myriad’s patents. Myriad still refused to release raw sequencing data, however, saying that doing so would violate the health privacy law known as HIPAA.

Ciccarella teamed up with the ACLU and three other people who wanted access to their full sequencing data and prepared to file a suit against Myriad in 2016, arguing that HIPAA actually guarantees patients the right to their own data. On 18 May, one day before the suit was due to be filed, Myriad reversed their stance and released the sequencing data to Ciccarella and the others. She found that Myriad had reclassified one of her VUSs to benign, but when she checked this against public databases of genetic variants, she found that no one else had changed this classification.

“So who’s right? There are two different opinions – that’s exactly the problem. One place says one thing, one place says another, and I’m stuck in the middle with a daughter who just found a suspicious lump,” Ciccarella says.

Ciccarella’s case may have been settled out of court, but another case is showing that the battles over genetic testing uncertainty are just beginning. In February 2016, Amy Williams filed a lawsuit against Athena Diagnostics, ADI Holding Company and Quest Diagnostics (Athena’s parent company) relating to the death of her son, Christian.

© Catherine Losing

Christian was born a seemingly healthy blond-haired, blue-eyed cherub on 23 August 2005. Just before Christmas that year, he had his first massive seizure. Many more followed. Despite countless medications and tests, no one could figure out what was causing his unrelenting seizures. He had a massive battery of tests in early 2007, including the sequencing of a gene called SCN1A. Athena, which performed the genetic tests, reported that he had a VUS there. With no clear genetic answers, his doctors treated him for an undiagnosed mitochondrial disorder, although his treatments had minimal effects on his continuing seizures.

On 5 January 2008, Christian went to bed after celebrating a belated Christmas holiday with his family. Videos taken that day gave no hint that he’d be dead by morning. The official cause of death was listed as a seizure.

Six years later, thinking of starting a family again, Williams wanted to get her own DNA sequenced to learn whether the disease that had affected her son could affect any future children. Again, she turned to Athena, but as well as her own results, she also requested Christian’s 2007 lab report. She saw from the revised report they provided that Athena had reclassified Christian’s VUS to a disease-associated mutation, which suggested he had a form of childhood epilepsy called Dravet syndrome (also known as severe myoclonic epilepsy of infancy). Several of the medications used to treat seizures in young children, including Christian, are toxic to children with Dravet and can increase the risk of death.

Williams believes this means the treatment Christian received was only making things worse.

What she now wanted to know from Athena was when and why they reclassified the variant. As Williams, a former special education teacher, taught herself the nuances of scientific literature, she found out that the same SCN1A mutation Christian carried had been identified in an Australian family in 2006, before Christian’s DNA was tested. Even more concerning was a patent document on the SCN1A gene that listed this mutation (a change in a single amino acid in the gene) as pathogenic. When Athena refused to answer, Williams sued.

Her allegations include that Athena had had enough information to reclassify Christian’s mutation before he was tested, and that if they had done so, it would have changed his diagnosis and treatment such that his death from a seizure related to Dravet syndrome could have been avoided.

Athena and the other two companies reject these allegations and argue that the case should be dismissed. They say that the 2007 lab report emphasised the inconclusiveness of the test results, that Dravet could have been the cause of Christian’s seizures without his medication being implicated, that further testing was strongly recommended (in particular testing of his parents, which was offered at no additional charge but not taken up), and that a conclusive diagnosis could be reached only by additional testing. Quest, Athena’s parent company, declined to comment on this ongoing legal action, but the case has caused many in the genetic sequencing community to consider what changes may be required in the future.

© Catherine Losing

This case reflects the uncertainties of modern genetic testing and the tension that can cause for patients and their families, and illustrates the increasing scrutiny of clinical genetic sequencing labs, how they share data on variants, and how this data is interpreted. Regulators, researchers, patients and the sequencing labs themselves will have to work together to find ways to improve these processes.


No matter how much they tell you, you believe you’re going to get an answer. It’s hard to hear that this is where it ends.

Tess Bigelow is a bubbly seven-year-old with light brown hair that curls forward into her face, framing a pair of bright pink glasses. A few months after Tess was born, in November 2009, her parents, Bo and Kate, noticed that something was wrong. She wasn’t rolling over or meeting other developmental milestones. By June 2010, her parents realised that something was very wrong.

“She was not interacting with other people. It was just like she was checked out. We knew she was in there, we just couldn’t get to her,” her father says.

As she got older, Tess didn’t start to speak or communicate, and she continued to have problems walking and standing. A full diagnostic workup revealed nothing, so genetics experts in Boston and the Bigelows’ hometown of Portland, Maine, recommended sequencing all of her genes. The team were hopeful that this would turn up results, but they cautioned the Bigelows not to get their hopes up. Tess’s sequencing revealed a mutation in a gene called USP7, but no one could say whether this was the cause of her illness.

“No matter how much they tell you, you believe you’re going to get an answer. It’s hard to hear that this is where it ends,” Bo Bigelow says.

He began learning everything he could about USP7. There wasn’t much. Researchers were just starting to learn what the gene did, and he couldn’t find any other families with a USP7 mutation. So he decided to see if he could make those other families come to him. In a public Facebook post he drafted late at night in August 2015, Bigelow described his daughter’s symptoms, along with her sequencing results. He crossed his fingers and clicked “share”.

The post went viral. One person shared it to Reddit, from where a graduate student brought it to the attention of Christian Schaaf, a geneticist at Baylor College of Medicine in Houston, Texas. He was working on USP7 and other genes that had been linked to genetic conditions like Prader–Willi syndrome.

USP7 is part of our cells’ protein recycling machinery, making sure that cells dump their garbage quickly enough to prevent the buildup of proteins that are damaged or no longer needed, but not so quickly that it removes healthy proteins. Suspecting that faults in USP7 could lead to disease, Schaaf had searched through Baylor’s own genetic sequencing databases and other genome data depositories, and found seven clinical cases of children who had mutations in USP7.

By the end of the day that his post was shared on Facebook, Bigelow had received an email from Mike Fountain, one of Schaaf’s co-authors on the research paper about the USP7 mutations and their links to disease. On the phone the next morning, Fountain outlined the array of symptoms experienced by the seven other children, and they all sounded remarkably like Tess. It looked like they had found the smoking gun, but only the results of more laboratory studies will show for sure whether this was the cause of Tess’s condition.

Like many parents of children with rare diseases and special needs, Bigelow has come to live with the uncertainty. But he and other parents and patients have begun sharing their genetic data through portals like MyGene2 to help others. Created by Michael Bamshad and Jessica Chong, MyGene2 lets people share their own sequencing results in the hopes of facilitating research and finding other families with similar medical problems. Other initiatives are springing up, too, and researchers hope they will reduce the uncertainty that continues to plague genetic sequencing.

Heidi Rehm is a clinical medical geneticist at the Broad Institute in Cambridge, Massachusetts. She led teams at the US National Institutes for Health that created two databases helping to improve sharing and curation of genetic data. ClinVar, launched in 2012, links genetic variants with symptoms. ClinGen, introduced the following year, is described as “building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research”. With these two resources, commercial and academic sequencing labs can combine their expertise to offer people the most accurate description of what their genetic variants mean.

The depositing of results from large sequencing studies, such as the Exome Aggregation Consortium at the Broad Institute, also promises to help reduce genetic uncertainty. Some of the earliest results of this initiative provided some of the largest reclassifications of VUS results yet, according to Rehm. Nearly all of those reclassifications were shifting a VUS to benign, an indication of the sheer volume of normal variation and mutation inherent in all of our genetic blueprints.

To really get a good handle on all the variation in humans, scientists are going to need to sequence tens of millions of people. And the only way to ever get these kinds of large numbers is to share data.

But regardless of how good the databases get and how many people have their genomes sequenced, uncertainty will never completely go away.

Every time our cells divide and copy their DNA, mutations can arise. This uncertainty may be maddening for patients looking for answers, but it’s as much stamped into our genetic blueprint as the double helix itself.


AnneMarie Ciccarella, a fast-talking 57-year-old brunette with a more than a hint of a New York accent, thought she knew a lot about breast cancer. Her mother was diagnosed with the disease in 1987, and several other female relatives also developed it. When doctors found a suspicious lump in one of her breasts that turned out to be cancer, she immediately sought out testing to look for mutations in the two BRCA genes, which between them account for around 20 per cent of families with a strong history of breast cancer.

Ciccarella assumed her results would be positive. They weren’t. Instead, they identified only what’s known as a variant of unknown or uncertain significance (VUS) in both BRCA1 and BRCA2. Unlike pathogenic mutations that are known to cause disease or benign ones that don’t, these genetic variations just aren’t understood enough to know if they are involved or not.

“I thought you could have a mutated gene or not, and with all the cancer in my family, I believed I would carry a mutation. I didn’t know there was this huge third category,” she says. “I got no information – it felt like a huge waste of blood to get a giant question mark.”

Thousands of people have had their BRCA genes tested for increased genetic susceptibility to breast, ovarian, prostate and other cancers. About 5 per cent have learned that they carry a VUS. That number is even higher for other genes: in one study, almost 20 per cent of genetic tests returned a VUS result.





Extra

We need to change the way we think about genetic variation

Genetic variants that cause disease are rare, but this does not mean that all rare variants cause disease. So should we change the way we manage uncertainty in genetic testing?



“That’s a lot of uncertainty,” says Robert Klitzman, a bioethicist at Columbia University in New York. People want genetic tests to be like pregnancy tests, he explains: “You’re either pregnant or you’re not. Instead, they’re more like a weather report.” And most people aren’t prepared to cope with the probabilities and uncertainties that entails.

When scientists surveyed a group of women one year after they received BRCA gene test results, the women whose results were uncertain or uninformative were feeling much more stress and anxiety than those whose results were clearly either pathogenic or benign. A follow-up study showed that the higher the risk an individual thought her result indicated, and the less tolerant she was of uncertainty, the more likely she was to experience serious long-term distress.

Even before her sequencing results came in, Ciccarella had decided on a bilateral mastectomy based on her family history. For her, the question of whether she would one day develop breast cancer had been answered, and in the worst possible way. But she still wanted information for her son and daughter so they could know whether they had inherited a genetic risk of cancer. Like a number of families, they are learning that genetic sequencing won’t deliver answers for everyone.


We all have tons of variations in our genes, most of which are extremely rare and, by the very nature of rarity, uninterpretable.


We are all mutants. The three billion pieces of DNA that make us who we are were long thought to be constant, chiselled in granite like a classical monument, with only tiny changes made here and there. Scientists used to believe that DNA mutations were largely harmful.

By the late 1990s and early 2000s, as the first sequences of the human genome came rolling in, researchers realised that their view of mutations was completely backwards. Instead of being rarities that almost inevitably harm health, mutations litter the human genome. The average human carries around 400 unique mutations, and most of us are none the worse because of them.

This challenged some basic tenets of genetics, as well as the ways that scientists and physicians interpreted genetic tests.

When Robert Resta, a genetic counsellor at the Swedish Medical Center in Seattle, first began examining genetic test results in the late 1980s, he could identify only chromosomal abnormalities or alterations of massive amounts of DNA. When other types of genetic tests were introduced, such as those for detecting the mutations in the CFTR gene that cause cystic fibrosis, interpretation was still reasonably straightforward. Because most of the people who had their CFTR gene sequenced showed clinical signs of cystic fibrosis, Resta could be reasonably confident that an observed mutation in that gene was the one that had led to the disease. In the past few years, however, the price of genetic sequencing has fallen dramatically, and doctors are increasingly requesting DNA testing earlier in the diagnostic process. As more data is gathered, the sheer number of mutations we all carry becomes more significant.

“It turns out mutations are the norm. You expect to find mutations in a gene. It’s a very different way of thinking about the human genome. If you don’t find a mutation, your machine is probably having technical difficulty,” Resta says.

When scientists test for mutations in large numbers of genes with a single test, known as a gene panel, they are virtually guaranteed to find at least one VUS, says Colleen Caleshu, a genetic counsellor at Stanford University’s Center for Inherited Cardiovascular Disease. “The more genes you look at, the more variation you’ll find,” she adds. “We all have tons of variations in our genes, most of which are extremely rare and, by the very nature of rarity, uninterpretable.” In short, there isn’t enough data to know what you are seeing.

© Catherine Losing

This grey area has only expanded as next-generation DNA sequencing has led to the growing use of gene panels, to look for mutations in a range of genes that may be related to a patient’s symptoms. Of the three possible results – pathogenic, benign, or unknown – pathogenic is the least common, says Resta. You’re much more likely to get uncertainty.

If interpreting genetic testing results is difficult for clinicians, it’s also tremendously hard for patients. Yvonne Bombard has spent the last several years of her career as a genomics health services researcher at St Michael’s Hospital in Toronto, working to understand how families make sense of genetic testing results.

“There’s very little research on the impact of uncertain results on families yet – the technology is just too new,” Bombard says.

A small study in Psycho-Oncology surveyed 24 women with breast or ovarian cancer who had received VUS results for their genetic testing. Many of them had a distorted perception of what those results meant. Although two-thirds correctly remembered three years later that the variants detected by the test were unclassified, 79 per cent interpreted the results as a higher genetic risk for developing cancer. One-third had also made significant medical changes in their lives based only on their test results, which Resta and Caleshu do not recommend.

Families of children with suspected genetic diseases have similar difficulties. Parents tend to interpret any variant that’s not classified ‘benign’ as being the cause of their child’s disease, explains Caleshu. But she appreciates how it’s hard not to do that, especially when families have been looking for answers for so long.

Families can feel let down by the medical establishment, who often seem to throw up their hands when a patient defies diagnosis, and in the absence of definitive answers it’s all too easy to believe that the genetic variants identified on the test must be what’s wrong. One of Caleshu’s main jobs is providing pre-test counselling so that patients understand the risks and the limitations of testing. She says her team have changed the way they present results, so that patients and doctors don’t read too much into a VUS. Even with the right genetic counselling, however, uncertainty can be agonising.


One place says one thing, one place says another, and I’m stuck in the middle with a daughter who just found a suspicious lump.


Ciccarella had watched her mother endure chemotherapy, and had undergone a similar gruelling regimen herself. If she could get genetic information that might help her children and any future generations to avoid that agony by using improved screening, reproductive planning and prophylactic mastectomies, then she was determined to make that happen.

She decided to get another lab to review the results of her genetic tests, and requested the data from the sequencing company, Myriad Genetics. They refused. Since they owned patents on these genes, no one else could have their proprietary genetic data.

So she followed with interest a lawsuit by the American Civil Liberties Union (ACLU) against Myriad’s genetic patent, hoping that if they won, she could get a second opinion on her unclassified variants after all. In 2013, the US Supreme Court found in favour of the ACLU, invalidating Myriad’s patents. Myriad still refused to release raw sequencing data, however, saying that doing so would violate the health privacy law known as HIPAA.

Ciccarella teamed up with the ACLU and three other people who wanted access to their full sequencing data and prepared to file a suit against Myriad in 2016, arguing that HIPAA actually guarantees patients the right to their own data. On 18 May, one day before the suit was due to be filed, Myriad reversed their stance and released the sequencing data to Ciccarella and the others. She found that Myriad had reclassified one of her VUSs to benign, but when she checked this against public databases of genetic variants, she found that no one else had changed this classification.

“So who’s right? There are two different opinions – that’s exactly the problem. One place says one thing, one place says another, and I’m stuck in the middle with a daughter who just found a suspicious lump,” Ciccarella says.

Ciccarella’s case may have been settled out of court, but another case is showing that the battles over genetic testing uncertainty are just beginning. In February 2016, Amy Williams filed a lawsuit against Athena Diagnostics, ADI Holding Company and Quest Diagnostics (Athena’s parent company) relating to the death of her son, Christian.

© Catherine Losing

Christian was born a seemingly healthy blond-haired, blue-eyed cherub on 23 August 2005. Just before Christmas that year, he had his first massive seizure. Many more followed. Despite countless medications and tests, no one could figure out what was causing his unrelenting seizures. He had a massive battery of tests in early 2007, including the sequencing of a gene called SCN1A. Athena, which performed the genetic tests, reported that he had a VUS there. With no clear genetic answers, his doctors treated him for an undiagnosed mitochondrial disorder, although his treatments had minimal effects on his continuing seizures.

On 5 January 2008, Christian went to bed after celebrating a belated Christmas holiday with his family. Videos taken that day gave no hint that he’d be dead by morning. The official cause of death was listed as a seizure.

Six years later, thinking of starting a family again, Williams wanted to get her own DNA sequenced to learn whether the disease that had affected her son could affect any future children. Again, she turned to Athena, but as well as her own results, she also requested Christian’s 2007 lab report. She saw from the revised report they provided that Athena had reclassified Christian’s VUS to a disease-associated mutation, which suggested he had a form of childhood epilepsy called Dravet syndrome (also known as severe myoclonic epilepsy of infancy). Several of the medications used to treat seizures in young children, including Christian, are toxic to children with Dravet and can increase the risk of death.

Williams believes this means the treatment Christian received was only making things worse.

What she now wanted to know from Athena was when and why they reclassified the variant. As Williams, a former special education teacher, taught herself the nuances of scientific literature, she found out that the same SCN1A mutation Christian carried had been identified in an Australian family in 2006, before Christian’s DNA was tested. Even more concerning was a patent document on the SCN1A gene that listed this mutation (a change in a single amino acid in the gene) as pathogenic. When Athena refused to answer, Williams sued.

Her allegations include that Athena had had enough information to reclassify Christian’s mutation before he was tested, and that if they had done so, it would have changed his diagnosis and treatment such that his death from a seizure related to Dravet syndrome could have been avoided.

Athena and the other two companies reject these allegations and argue that the case should be dismissed. They say that the 2007 lab report emphasised the inconclusiveness of the test results, that Dravet could have been the cause of Christian’s seizures without his medication being implicated, that further testing was strongly recommended (in particular testing of his parents, which was offered at no additional charge but not taken up), and that a conclusive diagnosis could be reached only by additional testing. Quest, Athena’s parent company, declined to comment on this ongoing legal action, but the case has caused many in the genetic sequencing community to consider what changes may be required in the future.

© Catherine Losing

This case reflects the uncertainties of modern genetic testing and the tension that can cause for patients and their families, and illustrates the increasing scrutiny of clinical genetic sequencing labs, how they share data on variants, and how this data is interpreted. Regulators, researchers, patients and the sequencing labs themselves will have to work together to find ways to improve these processes.


No matter how much they tell you, you believe you’re going to get an answer. It’s hard to hear that this is where it ends.


Tess Bigelow is a bubbly seven-year-old with light brown hair that curls forward into her face, framing a pair of bright pink glasses. A few months after Tess was born, in November 2009, her parents, Bo and Kate, noticed that something was wrong. She wasn’t rolling over or meeting other developmental milestones. By June 2010, her parents realised that something was very wrong.

“She was not interacting with other people. It was just like she was checked out. We knew she was in there, we just couldn’t get to her,” her father says.

As she got older, Tess didn’t start to speak or communicate, and she continued to have problems walking and standing. A full diagnostic workup revealed nothing, so genetics experts in Boston and the Bigelows’ hometown of Portland, Maine, recommended sequencing all of her genes. The team were hopeful that this would turn up results, but they cautioned the Bigelows not to get their hopes up. Tess’s sequencing revealed a mutation in a gene called USP7, but no one could say whether this was the cause of her illness.

“No matter how much they tell you, you believe you’re going to get an answer. It’s hard to hear that this is where it ends,” Bo Bigelow says.

He began learning everything he could about USP7. There wasn’t much. Researchers were just starting to learn what the gene did, and he couldn’t find any other families with a USP7 mutation. So he decided to see if he could make those other families come to him. In a public Facebook post he drafted late at night in August 2015, Bigelow described his daughter’s symptoms, along with her sequencing results. He crossed his fingers and clicked “share”.

The post went viral. One person shared it to Reddit, from where a graduate student brought it to the attention of Christian Schaaf, a geneticist at Baylor College of Medicine in Houston, Texas. He was working on USP7 and other genes that had been linked to genetic conditions like Prader–Willi syndrome.

USP7 is part of our cells’ protein recycling machinery, making sure that cells dump their garbage quickly enough to prevent the buildup of proteins that are damaged or no longer needed, but not so quickly that it removes healthy proteins. Suspecting that faults in USP7 could lead to disease, Schaaf had searched through Baylor’s own genetic sequencing databases and other genome data depositories, and found seven clinical cases of children who had mutations in USP7.

By the end of the day that his post was shared on Facebook, Bigelow had received an email from Mike Fountain, one of Schaaf’s co-authors on the research paper about the USP7 mutations and their links to disease. On the phone the next morning, Fountain outlined the array of symptoms experienced by the seven other children, and they all sounded remarkably like Tess. It looked like they had found the smoking gun, but only the results of more laboratory studies will show for sure whether this was the cause of Tess’s condition.

Like many parents of children with rare diseases and special needs, Bigelow has come to live with the uncertainty. But he and other parents and patients have begun sharing their genetic data through portals like MyGene2 to help others. Created by Michael Bamshad and Jessica Chong, MyGene2 lets people share their own sequencing results in the hopes of facilitating research and finding other families with similar medical problems. Other initiatives are springing up, too, and researchers hope they will reduce the uncertainty that continues to plague genetic sequencing.

Heidi Rehm is a clinical medical geneticist at the Broad Institute in Cambridge, Massachusetts. She led teams at the US National Institutes for Health that created two databases helping to improve sharing and curation of genetic data. ClinVar, launched in 2012, links genetic variants with symptoms. ClinGen, introduced the following year, is described as “building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research”. With these two resources, commercial and academic sequencing labs can combine their expertise to offer people the most accurate description of what their genetic variants mean.

The depositing of results from large sequencing studies, such as the Exome Aggregation Consortium at the Broad Institute, also promises to help reduce genetic uncertainty. Some of the earliest results of this initiative provided some of the largest reclassifications of VUS results yet, according to Rehm. Nearly all of those reclassifications were shifting a VUS to benign, an indication of the sheer volume of normal variation and mutation inherent in all of our genetic blueprints.

To really get a good handle on all the variation in humans, scientists are going to need to sequence tens of millions of people. And the only way to ever get these kinds of large numbers is to share data.

But regardless of how good the databases get and how many people have their genomes sequenced, uncertainty will never completely go away.

Every time our cells divide and copy their DNA, mutations can arise. This uncertainty may be maddening for patients looking for answers, but it’s as much stamped into our genetic blueprint as the double helix itself.


This article first appeared on Mosaic and is republished here under a Creative Commons licence.

Saturday, 15 July 2017

Is it really generation gap?

I, along with my family was travelling to a relatives place by car. Mom and dad were sitting in front, me and my younger twin brothers were sitting on the backseat. All along the five hour long journey we were listening songs of 80's and 90's. They are a melody indeed but an excess of everything seems uninteresting, no? On our return I made a deal with dad, since while going we listened his songs, 'old songs' patiently, so while returning we would play our songs, the new songs from Chainsmokers, Charlie Puth, Adele, etc. And so we did. But after a while mom and dad looked apathetically into each other's eyes giving a hint that we were enjoying something baseless which had no head and no tail, completely going beyond their heads. I exclaimed, "your choices need not be our choices, and you cannot impose your choices on us!" Dad sighed and through the mirror looked straight into my eyes to utter, "yeah! We don't like your choices and you don't like our choices!" He took to driving leaving me think, was this that I meant by what I had said? Well no! I just told not to impose their interest in us, I did not say that because I didn't like their choice of songs but because they kind of bored me. He surely misinterpreted me absurdly. Was it generation gap or just misinterpretation?



Not just me and my family, but everyone reading this might have gone through such a conflict in and out of home, where ever maybe and then left thinking all over again where you ended up wrong.

Generation gap, as what we name it is nothing but a conflict of interests and choices between a group of people. Gen-Y might not like Gen-X's interests, similarly Gen-Z might find it better to stay away from Gen-X as well as Gen-Y at the same time. The seeds of generation gap are sown as early as in childhood and it takes the form of harmful weeds as the time elapses, taking a toll on relationships. Yes, I respect my parents and their wishes but that does not mean I have to follow them and whatever they think. I surely sonot mean I'm rebellious, but I'm free spirited. I don't wish to stay in someone else's influence of thoughts. They are right the way they think and we are right the way we think. The gap is due to the contradictory milieu in which both are raised. We are raised in the age of technology and commerce, while they did not have access to any such things. Mahatama Gandhi's ideals of non violence donot apply to the contemporary world. No one puts another side of his face forward for one more slap!



This so called generation gap can be rooted out only if both the ends try to meet unconditionally. If parents put a step forward the child too needs to step ahead. You need two hands to clap, one does not make it done. Running away from the fact will not help anyone. Compassion and patience are the need of the hour. If not the world we can at least change ourselves.

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