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Sunday, 25 July 2010

Genotyping journalists

Take a bunch of journalists and ask them to undergo genetic testing - the outcome was always going to be entertaining. This was the part of Friday’s inaugural UK Conference of Science Journalists, held in the opulent surroundings of London’s Royal Society, that I was most looking forward to.

The public testing was part of the Future of Genomics session, organised by Zoe McDougall from the sequencing technology company Oxford Nanopore Technologies who provided sponsorship.

The testees to be paraded as genomic curiosities were Ed Yong, Martin Robbins, Claire Ainsworth and Mark Henderson. Three broad themes emerged from the resulting spectacle.

Firstly genotyping is confusing, no matter how impressive your scientific credentials. Claire Ainsworth has a PhD in fly genetics, Ed Yong writes a renowned biology based science blog, and Mark Henderson knows at least 50 genetic ideas that you really should too. Yet the panellists were all bemused or overwhelmed by at least some of their data. This is not criticism of their expertise but an indication of the complexity of the information involved.

Mark was genotyped by 23andMe, deCODEme and Pathway and has written in detail about his experience (subscribers to Times online content can read his three blog posts). The tests identified an increased risk of exfoliation glaucoma, which he knew from family history, but the companies differed in their estimate of background risk, leaving Mark perplexed:

How prevalent is exfoliation glaucoma, and how much do I need to worry about it? If 23andMe is correct, then even though I have a high risk genetic variant, my overall risk of this condition remains low. If deCODEme is right, I have a one in three lifetime risk. And if Pathway is right, the population risk is low, but the peculiarities of my genome dramatically enhance my chances of getting it.... I am now a confused customer!

Ed, who took the 23andMe test, has also blogged about the experience. He initially took his cystic fibrosis big fat negative at face value, but a genetic councillor quickly got in touch to explain the results were less clear cut. The test was for the most common cystic fibrosis variants, but over 1000 have been identified giving the potential for false reassurance. You can follow the discussion in Ed’s post comments, and there was a swift response from 23andMe.

That Mark and Ed were willing to share their results gave them the opportunity to receive input from experts. Mark sent his data to be analysed by Daniel MacArthur, researcher from the Sanger Centre, author of the influential blog Genetic Future, and presenter of the opening talk at the session.

Daniel’s analysis (further details in Mark’s second post) showed that out of the 554,618 variants called by both 23andMe and deCODEme, there were differences in only 77, giving an error rate of 0.007%, far lower than conventional diagnostic kits on the market.

This open-access sharing and caring model is just what 23andMe encourage with their community membership and genotype comparison technology. And, as Mark and Ed found, this is a productive way of navigating the information tangle.

But the testees’ own genetic knowledge and their ready access to experts are not shared by every consumer. As Ed pointed out, you cannot fault the information that 23andMe provide, but you need time and knowledge to take it on board.

My second theme is that genotyping generates emotions as well as information.

Testee Martin Robbins, who doesn’t possess a genetics background, was more illustrative of your standard genomic punter. He described the impersonal result screen as like facing a “wall of death” and said he found the whole testing procedure uncomfortable.

His test, carried out by Navigenics, identified an increased risk of Alzheimer’s, which as Martin pointed out will be shared by at least one of his parents, neither of whom consented to be screened.

Martin also highlighted fears about data ownership and protection from hackers and third parties such as future employers and dating sites. This was raised later in the session by Alison Hall from the PHG Foundation, who discussed the conflict between consumers posting their haplotypes on Facebook sharing their data online and the fundamental principles of data security and confidentiality.

Claire was the most circumspect about the test, phoning her parents in advance to gauge their thoughts on being indirectly genotyped. She also choose not to disclose all the data, feeling the information was not hers alone to share and pointing out that today’s innocuous variants could be tomorrow’s risk magnets.

Although the testing provoked a range of emotions and there was much talk of hypothetical dangers, no one seemed to regret having taking the plunge. This is in line with the general lack of concrete evidence for damage caused by consumer genetic tests.

My final point is that the tests provided more fodder for jokes than they did undercover meaningful clinical insights. Ed’s blog post is full of smart gags (a hypothetical love child with Mark, science writer disease risk top trumps and too much talk of wet earwax). My favourite wisecracks from the session were Claire’s disappointment that her phenotype was less sexy than the dark-eyed curvy genotype prediction and Martin’s dismissal of his increased prostate cancer risk given his expected Alzheimer’s oblivion.

Ed’s results gave the starkest illustration of the insignificance of much of the potentially non-trivial information. Most genetic studies have been carried out on Europeans, so his Asian ancestry meant that his risk predictions are currently very unreliable and practically useless. But Ed now owns a copy of his genotype so will be able to uncover future associations as research becomes more geographically widespread.

There was also a genetic councillor, Christine Patch, on the panel who outlined the differences between the targeted clinical tests provided by the NHS and those of low predictive value available direct to consumers. For example, the NHS do not screen for the Alzheimer’s variants flagged in Martin’s results as the tests are not deemed clinically useful.

My only criticism of the session was that there wasn’t room on the agenda to explore the implications of full genome sequencing. James Brenton, from Cancer Research UK, hinted at the future complexity in his presentation on cancer genomics. He described research showing genetically distinct populations of cancers cells present in different locations of the same tumour, and how the populations evolve and shift in response to therapy.

Neither was their time to discuss the previous day’s US hearing on regulation of the direct-to-consumer genetic test industry. If Daniel MacArthur was tired from staying up to post his analysis of the events on Genomes Unzipped, he didn’t show it.

The rest of the day was equally stimulating, a raft of expert speakers and bubbling discussion. There was much talk about the role of bloggers, social networks and cyberspace review. If the web provides an audience for newcomers typing from their kitchen table then this conference was equally inclusive. The day was made accessible by the efforts of British Association of Science Writers members and sponsorship from Elsevier and others.

Other conference attendees received genotyping kits, not all could present on the day. I am waiting for the results of a deCODEme cancer scan which will go in a separate post, and I will update this post with any links to others who share their experiences.

For me, it was a full, blissfully child-free, day immersed in science and new communication technologies. I left with a humming mind and a curiosity about what story my DNA would tell.

Monday, 12 July 2010

Children and genomics - the underworld of DNA talent testing

My last post looked at how direct-to-consumer genetic testing companies promote the testing of children. Here I explore the shadowy underworld of genetic talent tests.

There is a clutch of companies who market DNA tests to children without the backing of real science. They hail mainly from Singapore and China and their marketing machines are getting slicker.

My Gene Profile has now created a reputable looking front-end which contrasts to their original flaky website featuring a mohican baby. They are based in Singapore, but list offices in the UK (Haslemere) and US (Connecticut).

Their newer homepage has an amusing picture of two scientists looking gobsmacked by a cyclohexane molecule (which I presume is meant to be a nucleotide). The rest of the site would also be hilarious if it wasn’t for real. They offer an “Inborn Talent Genetic Test” and a “Disease Susceptibility Genetic Test”. Drilling down to the talent test gives a list of 40 genes (2/3 of the way down this sprawling page), including such gems as:

Propensity for Teenage Romance Gene
Drawing Gene
Self Detoxifying Gene

The new URL still hides links to scam-like behaviour, for example add /vip to bring up information sent to targeted individuals last year:
Make Biggest Commission Paycheck by Riding On World’s Fastest Growing Industry: DNA and Genetic Market!
Another Singaporean offering, Map My Gene, sells the same two tests. Francis Collins and Robert Plomin (Professor, Kings College London), are quoted as offering their support. The company ask for a copy of your passport or identity papers to be submitted along with your DNA sample – a frightening combination to part with.

Again from Singapore, Magic Fidler is a company running children’s music classes with a sideline in DNA testing to determine musical ability. The number of tests offered is a familiar sounding 40:
For $2,000 the scientific results can pinpoint your child’s strengths and weaknesses in 40 areas, including IQ, EQ, memory as well as artistic and athletic abilities. For $2,800, you can get the DNA Test plus 12 weekly music classes.
The music teaching may well be wonderful, but the science is not. The site testimonials summarise all that is wrong with this approach (based on children tested in January 2010):
“My first reaction was: ‘Are you sure this is my child?’ Kiran (aged 7) scored very high in intelligence and creativity, but I always thought he was just average....While he likes singing to pop songs, he’s never expressed an interest in music lessons. So I was surprised that he has a good sense of rhythm and is supposedly good at learning different instruments."
“What surprised me was that it didn’t show up in his DNA that he has a flair in maths. I always thought that he is quick at understanding concepts, which even the elder sister has difficulty understanding.”
“Since we received the results, my husband and I had many interesting discussions about our girl (aged 2). Isn’t she supposed to be talented in arts? (She’s always doodling!) Well, it’s not in her DNA. Didn’t she learn to walk only after 15 months old? (A friend’s kid of the same age was already running around.) Yet, the results showed she has a natural flair for sports, with high endurance gene."
The music school act on the spurious DNA results:
“If the child’s DNA results show that he has strong genetic propensity for music and creativity, for instance, he might be put in a more intensive class, which teaches composition skills.”
The tragedy is that such results (which may as well come from a random number generator) lead parents to dismiss the best way of finding out about their children’s talents – their own observations.

Finally, a couple more quotes to further illustrate the potential influence of such information. Firstly from The Genetic Center who sell a “Child Talent Gene test”:
"This child is very thoughtful and focused," Shanghai Biochip's Healthcare Director Huang Xinhua explained while looking over a girl's test results. "I suggest she go into management."
Secondly, the American Atlas Sports Genetics who sell a test based on the ACTN3 gene:
“Although, my daughter is only 9 she now knows that she had a the Sprint, Power, & Strength advantage which we can use to market her Athletic Career and hopefully a wonderful scholarship from this process.”
Note that the parent wants to market the child – has genetic testing turned her into a commodity?

For now, such websites will only affect those credulous enough to believe the manufactured science. But the genomics juggernaut is on a roll, bringing with it more robust links between personality traits and DNA sequence. When predictive testing finally comes of age, should we allow children to be tested? And if so, how will we ensure that eager parents are aware of the caveats, subtleties and statistics that hang off each data point?

Wednesday, 7 July 2010

Marketing direct to consumer genetic tests to children

I’ve been looking at the websites of main-player consumer genetics companies to see if they promote testing of children. I’m driven primarily by curiosity, rather than the belief that such testing is necessarily wrong.

A quick survey of the type of people used in promotional website photos is a good way to gauge intended audience. Staid lab-coated researchers, trustworthy medics and wealthy, aging Caucasians feature most often (e.g. deCODEme, Navigenics). 23andme breaks rank by featuring a non-white girl, father and baby. Knome is light on the photos (but if you can afford the price tag you are probably not motivated by identifying with a target consumer group).

The official Pathway Genomics site has a scientist at the bench, along with a picture of a young couple presumably undergoing prenatal counselling. In addition, they sponsor a separate site, called My Genes My Child, that has a very different focus. It contains a fairly balanced discussion of the risks and benefits of testing children, with prominent, unbranded adverts taking you direct to Pathway. My Genes My Child is managed by an organisation called morefocus, who claim not to accept editorial from their sponsors.

In fact, there is a list of similarly sponsored Pathway sites, each with a slightly different twist:

Genetic Health
Nature and Nurture
Adoption DNA
Family Helix
Ancestor DNA

The genetic testing of children can touch a raw ethical nerve, which is maybe why children don't feature on many corporate websites. Even those who are liberally minded about adults exploring their DNA may feel a little uncomfortable where children are concerned.

Adults can choose to test, whereas children may not be mature enough to deal with the consequences. The availability of direct to consumer, rather than physician mediated testing sharpens such concerns. There is the real fear that labelling a child with some sort of “DNA destiny”, especially in these early days of scientific unknowns, has the potential to be detrimental to their upbringing.

23andme seem to have ridden roughshod over any such hesitations. They have no concerns about featuring children on their corporate site, and indeed they encourage the testing of extended families to uncover generational DNA interplay. And they seem to be selling something that people want to buy.

Babies always exert a stronger pull on the ethical heart strings than older children. Although 23andme have a cutesy baby on their homepage, an FAQ warns of the difficulty of collecting sufficient saliva from under threes (and so sidestepping any ethical concerns for this age group).

But there are other ways to get DNA: I have just sent off a DNA sample to deCODEme, and rather than spitting I had to scrape a stick inside my cheek. I reckon I could collect my 20-month-old son’s DNA this way (yes, it would be a struggle, but no more than the twice daily teeth brushing battle).

So, it seems like most genetic testing companies are not overtly promoting testing to children, with the exception of 23andme (who do not appeared to have suffered as a result), and Pathway whose anonymous approach may have slipped under the radar.

Regardless of your views on the promotion of direct to consumer genetic tests to children, it is happening. At least the main players are backed up by sound science and peer reviewed research, which cannot be said by the proliferation of more disturbing child talent sites – more on these in the next post.