Personal genomics: is your doctor ready?

A perspective piece in the latest New England Journal of Medicine offers a review of the new field of personal genomics from a clinician's point of view.

It may happen soon. A patient, perhaps one you have known for years, who is overweight and does not exercise regularly, shows up in your office with an analysis of his whole genome at multiple single-nucleotide polymorphisms (SNPs). His children, who were concerned about his health, spent $1,000 to give him the analysis as a holiday gift. The test report states that his genomic profile is consistent with an increased risk of both heart disease and diabetes, and because the company that performed the analysis stated that the test was "not a clinical service to be used as the basis for making medical decisions," he is in the office for some "medical direction." What should you do?

The authors highlight a major emerging problem: clients taking advantage of the new commercial genome-wide genotyping services such as 23AndMe and deCODEme (hereafter called the "Me Two") are going to want to use that information to make health and life-style decisions, regardless of the disclaimers that companies offer to discourage this. But how do they make sense of the reams of data pouring out of their own genomes? Are clinicians in any way prepared to guide their patients through these decisions?

In general, the medical profession (perhaps with some exceptions) is far from prepared for the challenges that personal genomics will bring. What suggestions can the authors offer to clinicians faced with the scenario above?

For the patient who appears with a genome map and printouts of risk estimates in hand, a general statement about the poor sensitivity and positive predictive value of such results is appropriate, but a detailed consumer report may be beyond most physicians' skill sets. For the patient asking whether these services provide information that is useful for disease avoidance, the prudent answer is "Not now — ask again in a few years." More information is needed on the clinical utility of this information in the light of existing disease-specific opportunities for prevention or early detection and the potential value that genomic profiles can add to that of simpler tools, such as the family health history. Finally, given the risk of commercial exploitation, if patients are determined to proceed, perhaps because they are simply curious, are genetic hobbyists, or are "early adopters" of new technology, it would make sense to encourage them to enroll in formal scientific studies. [my emphasis]

The first two bolded statements are good advice - the usefulness of the information from the first wave of personal genomics companies is still pretty marginal, but it's clear that it won't be long before that changes.

I'm curious about the third suggestion, though - what scientific studies do they have in mind? I don't know of many that would provide their clients with full access to their own genome-wide data-set (as deCODEme does) or that would be willing to provide the type of user-friendly interface that both companies have put together. The clinical value of the Me Two is still on the dubious side, but at least their clients can get some useful information in return for their time and money.