Personal genomics "positively disruptive"

The latest issue of Nature Genetics has an optimistic editorial on the rise of personal genomics. The editorial makes several excellent points:

Giving individuals their own genotype is not so much premature as truly disruptive. The individual gains a personal stake in the ongoing research effort and a huge incentive to find out more. A personal stake in finding out something that was not previously known is the key to getting students into research and may well be a powerful tool to educate and interest members of the public in the details of their own health and functioning.

Knowledge is power. Over the next few decades our world will be changed forever by advances in genetic technologies, and people who have some understanding of genetics - who are capable of making informed decisions about genetic issues, rather than simply taking the advice of their health providers - will benefit the most.

Early personal genomics companies like the Me Two (23andMe and deCODEme) are important not because of the information they provide about individual genetic risk - at this stage this information is of marginal benefit at best. Rather, these companies are having two important effects:

1. They are encouraging the community to engage with issues related to genetic information; and
2. They are training people to think like geneticists - to understand the language of SNPs, alleles and odds ratios.
   

That training is both direct and indirect. Those people who have the money and inclination to purchase a kit from one of the Me Two get the benefit of inside information on their own genomes; but even those who are not early adopters are benefiting from the informed discussion permeating the blogosphere and the mainstream media. Anyone who takes this opportunity to learn more about genetics will benefit over the next few decades, as we are faced with increasingly complex decisions about the effect of genetics on our own health, the health of our children, and the shape of society.

The Nature Genetics article makes an excellent point about genetic counselling:

The pressure of information also creates a need for genetic counselors, but if uptake and use of individual genomics spreads as fast or widely as it seems likely to do, the counseling curriculum will undergo a rapid shift of emphasis away from rare mendelian diseases to both rare and common genetic determinants of common diseases and will acquire a new set of courses to deal with evaluating environmental risks.

This shift of emphasis is going to have to happen fast - in just a few years the technology to examine millions of common variants throughout the genome will be affordable to most citizens of the industralised world, and at the same time our understanding of the effects of these variants on human health will have exploded, thanks to large association studies. A few years after that whole genome sequencing will be within the grasp of the man on the street, and even more powerful information will have begun trickling out of absolutely enormous studies like the 500,000-person UK Biobank. Genetic counsellors will have to work incredibly hard to adapt to these changes or the public will be left adrift in a sea of worthless information.

I also love the final paragraph of the article:

In the meantime, individual genomics will have informed thousands participating in one of the most exciting areas of biomedical research, and it may recruit participants in prospective studies that they will have funded partially from their own pockets. That being said, they are co-investigators, not patients, and the experiment will be conducted on their own terms!

In other words, the future will be a marketplace of genetic information, with thoroughly informed individuals exchanging their genetic and medical data in return for further information. This may sound rather utopian, but in fact this is exactly what the customers of the Me Two are doing right now: 23andMe and deCODEme provide genetic information to their clients, and in return they get to aggregate that information with other data about health and environment to sell on to pharmaceutical and biotech companies. It's a world-changing business model, and no doubt one we will see increasingly more often.

Added in edit: In a comment on the Nature Genetics article on the 23andMe blog, this model is laid out explicitly:

Once our database is large enough, we plan to ask our customers to provide additional information beyond their genetic data – it could be anything from symptoms of autism to shoe size. That information would be used in research that could discover even more genetic links to traits and diseases.