Is genomics improving YOUR life?

The human genome has been sequenced. Genetic testing--according to media and advertisements—is available to help you determine how to live the rest of your life. The price for this information had dropped below $1000. Are we any closer to the promises of cures for debilitating diseases?

Douglas Kamerow, former US assistant surgeon general and associate editor of the British Medical Journal, in an article dated 5 January 2008, asks what have we gotten for our money?

The sequencing of the human genome was completed in 2003. Since then we've been told that we're living in the "genomic era"-the biggest revolution in human health since antibiotics, some say, and the beginning of scientific, personalised medicine. In the United States we've spent about $4bn since 2000 to fund the National Human Genome Research Institute, so it seems fair to ask what we've got for our money.

After acknowledging a number of the “advances” related to genome sequencing, most of which are applicable to small portions of the population, he then asks:

What about the common, everyday diagnoses-heart disease, diabetes, and other multigene disorders? I hope that there is some new information out about them. Generally when I hear experts addressing GPs {general practitioners] on genomics they offer the same stock examples: the woman with breast and cervical cancer in her family history who is referred with her daughters for testing; the man with colorectal cancer at a young age who turns out to have a hereditary syndrome. But we knew about these kinds of things a long time ago-we just didn't have the exact gene. It comes down to taking a good family history.

Kamerow comments on the recent offerings of genome sequences for “reasonable cost”:

Maybe the future lies in the flashy new genetic testing websites that have sprung up, all planning to start collecting our money and DNA this year. Just pay your $995 to $2500, spit into a tube or scrape your cheek, and in four to six weeks you can see your genetic destiny on a special secure website. Apparently the smart money is betting on these companies, to judge from the venture capitalists they have behind them.

He tells us what these services provide and asks, essentially, are the results really helpful?

These "personal genomic services" allow you to "unlock the secrets of your own DNA." They can tell you your risk of developing lots of common and less common diseases, in comparison with the rest of the population. The rub, of course, is what to do with these data. All the sites take pains to point out that they aren't giving medical advice. And most of them don't report any single gene disorders that are the daily work of clinical geneticists and genetic counsellors. What are you supposed to do with the knowledge that you have a 30% increased risk of Alzheimer's disease or a 40% less likelihood of developing atrial fibrillation? Change your behaviour? How?

After discussing pharmacogenomics and the reality of screening patients for their expected response to specific medications, Kamerow concludes:

This is not to say that progress hasn't been made or that these discoveries won't some day revolutionise health care. But the day when the genome is a regular part of the medical record, when personalised medicine is a reality rather than a catchphrase, seems a long way off.

I guess I’m not the only person that would like to modulate the promises made for our futures thanks to genomics.

Marie Godfrey, PhD

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