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Do We Have Enough Information About The Whole Genome Sequence To Improve Medical Care?

cake with double helix decoration - text: One base pair at a time

The popular proverbial saying “you cannot have your cake and eat it too” implies that one cannot consume something and preserve it at the same time–in other words, we cannot have it both ways.  Well, for once, maybe we can have our cake–our whole genome sequence (WGS)–and eat it too. I believe having our WGS and consuming it in small bite sizes over a lifetime may be the only way to integrate it into medicine and public health.

Rapid advances in genomic sequencing technologies are making the possibility of reliable and affordable whole genome sequencing (WGS) a reality in the next few years. We all carry about 6 billion base pairs of DNA in each of our cells, with 5-10 million inherited variants that are different among us. This genetic variation along with environmental influences provides a blueprint for health throughout the life span, and is related to virtually every disease of public health significance. There is definite interest among the public and scientists about the personal utility of this information.  In a recent survey by Nature, attitudes towards genome sequencing were explored among a sample dominated by scientists and professionals from medicine and public health. Although only 18.2% of respondents had had their genome sequenced or analyzed, 2/3 of those who had not reported they would take the opportunity should it arise. Curiosity was reported as the main single factor influencing respondents.

Can this information be useful today in improving medical care and preventing disease?   Read more »

*This blog post was originally published at Genomics and Health Impact Blog*

Culinary Metaphor Used To Understand Gene-Environment Interactions

a pie cut in almost half with the smaller piece labeled Environmental and the larger piece labeled GeneticA recent article in the Archives of General Psychiatry by Hallmayer et al. discussed the role of genetic and environmental factors in autism and autism spectrum disorders (ASD).  The study was a heritability analysis of 192 pairs of twins, which attributed 37 percent of the variation in risk of autism to genetic factors and 55 percent to shared environmental factors.  The authors contrasted their findings with those of previous studies, which had given genetics a much higher share (up to 90%).

Rather than contradicting previous research, the new results provide more evidence that autism, like many other common diseases, results from both genetic and environmental factors.  The way that these elements – often called “nature and nurture” – influence health outcomes has been discussed for decades but is often misunderstood, even among scientists.

Disease Causation is Not as Easy as… Pie Read more »

*This blog post was originally published at Genomics and Health Impact Blog*

Latest Interviews

IDEA Labs: Medical Students Take The Lead In Healthcare Innovation

It’s no secret that doctors are disappointed with the way that the U.S. healthcare system is evolving. Most feel helpless about improving their work conditions or solving technical problems in patient care. Fortunately one young medical student was undeterred by the mountain of disappointment carried by his senior clinician mentors…

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How To Be A Successful Patient: Young Doctors Offer Some Advice

I am proud to be a part of the American Resident Project an initiative that promotes the writing of medical students residents and new physicians as they explore ideas for transforming American health care delivery. I recently had the opportunity to interview three of the writing fellows about how to…

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Latest Book Reviews

Book Review: Is Empathy Learned By Faking It Till It’s Real?

I m often asked to do book reviews on my blog and I rarely agree to them. This is because it takes me a long time to read a book and then if I don t enjoy it I figure the author would rather me remain silent than publish my…

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The Spirit Of The Place: Samuel Shem’s New Book May Depress You

When I was in medical school I read Samuel Shem s House Of God as a right of passage. At the time I found it to be a cynical yet eerily accurate portrayal of the underbelly of academic medicine. I gained comfort from its gallows humor and it made me…

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Eat To Save Your Life: Another Half-True Diet Book

I am hesitant to review diet books because they are so often a tangled mess of fact and fiction. Teasing out their truth from falsehood is about as exhausting as delousing a long-haired elementary school student. However after being approached by the authors’ PR agency with the promise of a…

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