Two new important publications point to the emerging world of very personal health care: one, courtesy of your tax dollars at work, from the Department of Health and Human Services; the other, published on 21st September in Science.

Personalized Health Care: Opportunities, Pathways, Resources is a white paper from DHHS that provides a straightforward primer on genomics and health IT as the dual foundations of personalized health care. The DHHS rightly notes, that, “Personalized health care is information-based health care.” However, one area that needs more detail in the report is the short paragraph on page 13 titled, “The Patient as Participant.” You can’t get personal about health care unless the patient participates with eyes open. We’ve learned a lot about informed consent, attention spans, and health literacy to know that engaging the patient/consumer is a major challenge. Here, the supporting roles of advisors, coaches, family, friends, and communities will be crucial building blocks, along with the sound science.

Speaking of science, the magazine features four perspectives on the future of personal genomics in this issue, covering ethical, social and clinical challenges.The authors predict that within five years, DNA sequencing technologies will be affordable enough that personal genomics will integrate into routine clinical care. We’ve already seen the start-up of companies applying genomics to various services directly reimbursed by consumers themselves: nutrition, reproductive assistance, ancestry tracking among them. And pay attention to 23andme, the personal genomics company started up with financing from Google, Genentech, Mohr Davidow Ventures, and New Enterprise Associates. One of the founders of 23andme is Sergey Brin’s wife Anne Wojcicki, Brin being a Google founder (now, that’s a truly personalized prescription). For more on 23andme, see this insightful blog by Dr. Hsien-Hsien Lei.

Another direct-to-consumer company that’s getting traction is DNADirect, founded by Ryan Phelan. DNADirect already offers several tests, including the The deCODE T2 diebetes test that detects a genetic marker known to increase risk for Type 2 diabetes. This is exactly the type of genetic test yielding actionable health information that a consumer can understand and use to modify lifestyle behavior and avoid a chronic disease.

While diabetes is fairly straightforward, the mechanisms behind Alzheimer’s, for example, aren’t so easily understood. Timothy Caulfield, a co-author of the article in Science, warns, “There will be so much genetic information, teasing out what’s meaningful is going to be a real challenge,” recognizing that the health system will need more genetic counsellors to handle the growing volumes of personal health information.

Health Populi’s Hot Points: Personalized medicine based on genomics is a good thing when the patient/consumer is fully informed in advance of the implications for their own lives. Safeguards must be in place to prevent discrimination by any party based on this information. Without carefully working through possible scenarios, unintended consequences could be very unpleasant, and very difficult to address. As in many health care venues, the technology here is way ahead of the social, ethical, financial and health system capacity to deal with it.

Sources: Personalized Health Care: Opportunities, Pathways, Resources, September 2007, U.S. Department of Health and Human Services (; Future of Personal Genomics, Science, 21 September 2007:Vol. 317. no. 5845, p. 1687 (

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