Wednesday, September 30, 2009

21 trends in human genomics in 2009: peering into the Genetic Future

It may be the fall, so what better time to check in to see how some of the major predicted trends are playing out in the human genomics field in 2009 – in research outcomes, as well as shifts in the rapidly-evolving consumer genomics industry.

Here are predictions made by Daniel MacArthur of Genetic Future for the emerging (and ongoing) trends of 2009 in the field of human genomics:
  1. 2009 will be the year of rare variants for common diseases.
  2. Genome-wide association studies of common variants will exceed the 100,000-sample mark, but provide diminishing returns in terms of convincing associations.
  3. The validation of many newly-discovered variants will prove difficult.
  4. Isolated populations will provide a powerful source of new genetic variants for common diseases and other complex traits.
  5. Attention will move gradually away from complex diseases and towards the genetic dissection of disease-related traits.
  6. The causal variants underlying some genome-wide association signals will be mapped, while others will prove elusive.
  7. Human genetics will become more intimidatingly complex than ever.
  8. There will be increasing emphasis on the functional validation of signals identified by genome-wide association studies.
  9. Studies incorporating individuals from multiple populations will be fruitful in mapping causal variants, and uncovering differences in disease genes between human groups.
  10. Most of the "missing heritability" will stay missing.
  11. Still, clinically usefully genetic tests for some complex diseases will be developed.
  12. Genetic variants underlying complex psychiatric diseases will remain largely elusive.
  13. We will start to see "bad" genome-wide association studies.
  14. There will be a proliferation of new companies attempting to gain a share of the personal genomics market, most of whom will sink rapidly into obscurity.
  15. We will not see a retail complete genome sequence offered for less than $1000.
  16. Mainstream personal genomics companies will offer affordable large-scale (but not whole-genome) sequencing, with disappointing results.
  17. Navigenics will not come to dominate the consumer genomics market.
  18. The personal genomics industry will begin to blur out of existence. By this I don't mean that demand for personal genomics will disappear, but rather that the industry will cease to exist as a discrete, monolithic entity.
  19. The regulatory landscape will shift - but in which direction?
  20. There will be an uptick in "it's all lies" stories about personal genomics, impacting on public perception of the industry.
  21. Genetic ancestry will bring in big money, but it will trigger a backlash from indigenous populations.
Click here to read the full commentary of his predictions.

According to its profile, the mission of MacArthur’s Genetic Future blog is to cut through the hype associated with the brave new world of human genomics. It reports on the latest findings from genome-wide association studies and large-scale sequencing projects investigating the genetic underpinnings of common disease, putting their results in context and in language that consumers can understand.

MacArthur also reviews the scientific basis and usability of products offered by commercial genetic testing companies, dissecting the studies used by these companies to justify their expensive tests, and describing in plain language how useful such tests are likely to be to consumers.

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