Genomics Personal Genetics – Lessons Learned and the Opportunities Ahead Linda Avey Founder, and Executive Director, Brainstorm Research Foundation
Abstract
Nearly three years have passed since the launch of the personal, or direct-to-consumer, genetics industry, and a healthy debate still continues as to its proper place in the ecosystem of health information. Many challenges, from regulatory to ethical to professional, have yet to be sorted out, and there are many stakeholders who will have a say in its ultimate positioning. Just as the Internet has ‘democratised’ information to the masses and armed consumers with knowledge that was previously inaccessible, personal genetics has the potential to provide individuals with information that can greatly affect their wellbeing when delivered in a responsible and scientifically sound manner. This article explores the early learnings from an industry insider and offers an outlook that could move genetics research into a new playing field.
Keywords Direct-to-consumer genetics, personal genetics, 23andMe, Navigenics, deCODEme
Disclosure: Linda Avey is a director and shareholder of 23andMe. Received: 15 April 2010 Accepted: 20 May 2010 Citation: Drug Discovery, 2010;7:77–80 Correspondence: Linda Avey, Brainstorm Research Foundation, 110 Pacific Box 22, San Francisco, CA 94111, US. E:
linda@brainstormrf.org
How Soon Is Now?
It has been nearly three years since the concept of ‘direct-to- consumer’ (DTC) genetics entered into public consciousness, debuting with a rather startling display of media coverage. The idea that a person could actually tap into a wellspring of deeply personal molecular titbits (in the form of single nucleotide polymorphisms [SNPs], indicators of genetic variation residing in our DNA) took many by surprise. Was it really possible to simply spit (or scrape your cheek) and soon be traversing your own genetic landscape?
Initial reactions to these offerings tended towards the extremes, ranging from ‘I don’t want to know when I’m going to die’ to ‘I want to know if I’m going to get my dad’s heart disease’. However, as the intrepid early adopters would soon find out, peering into one’s own genetic future is often far more nuanced – and less understood – than most consumers had expected. Pre-data jitters often morphed into relief and, oddly, disappointment that something more dramatic had not been exposed.
The medical world generally seems to have its own biases towards the idea of personal genetics, possibly stemming from a limited, black-or-white Mendelian training. After all, until recently most of the clinically relevant genetic tests were for so-called monogenic diseases such as cystic fibrosis and sickle cell anaemia, for which the data are fairly straightforward indicators of clinical outcomes. Some physicians’ logic followed that it was irresponsible to unleash such serious data onto ‘patients’ who were ill-equipped to take it all in without the support of a genetic counsellor or clinical geneticist. Some neurologists, who deal with genetically unambiguous diseases such as Huntington’s, had dire predictions of people jumping off bridges upon learning their genetic ‘fate’. (It should be noted that
© TOUCH BRIEFINGS 2010
none of the DTC companies to date reports risk of developing Huntington’s disease; for one thing, SNP data are not an appropriate measure of this particular genetic characteristic.)
On the other end of the spectrum, many in the research community voiced that it was far too soon to be doling out the early findings of genetic studies, called genome-wide association studies (GWAS), which focus on more genetically complex diseases, to the scientifically illiterate and unprepared lay public. Just because gene variants linked to a variety of illnesses were emerging from this relatively new research strategy, the picture was still fuzzy and in need of further investigation. Attempting to correlate an individual’s disease risks from these initial discoveries, they stated, was premature at best, and at worst confusing or misleading. Some went so far as to accuse the companies of trivialising genetic information by introducing it to consumers. How could having a better public understanding of scientific literature lessen its value?
Was the biggest problem in personal genetics one of timing? Was it too early, given the early state of medically relevant genetic knowledge combined with a lack of physician awareness? Should the companies have waited until these issues were better understood? The irony of these questions is that almost every research or medical ‘expert’ seemed to agree that, at some point in the shiny future, genetic information would be at the core of a personalised approach to healthcare – but when, and by what means?
One could argue that society also was not prepared for the Internet, or personal computers, or automobiles. The adoption and learning curves in these and other disruptive advances are challenging in many respects, but the advantages have to outweigh the risks, otherwise
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