We are evolving from the specialty of medical genetics, with its emphasis on the identification of a specific genetic abnormalities such as Down Syndrome (Trisomy 21), to medical genomics. This latter approach to genetic disease has been defined in a Mayo Clinic publication in the following way:
The application of basic knowledge of the human genome to questions that influence human health. Medical genomics promises a fundamental change in the practice of medicine by: identifying new genes with disease relevance; providing better characterization of subcategories of disease; providing better identification of risk factors; and creating the potential for individualized drug therapies.
Medical genomics is designed to address diseases relating to the entire genome as opposed to medical genetics that had a much more limited horizon and did not address broad areas such as disease risk factors and individualized targeted drug therapies. For me, one of the ironies of medical genomics, as it is now evolving, is that consumers are being exposed to it through consumer-oriented web sites such as 23andMe before the field has sufficiently matured within the formal medical establishment. To a certain extent, I think that this is partly the basis of some of the press buzz about 23andMe and also hostility on the part of physicians to personal genomics.
However, there is now some evidence that sophisticated services relating to genetic testing and medical genomics are beginning to be offered. Generation Health is a case in point. Copied from the company home page, here is a summary of its mission:
- Establishing a framework and rationale for covering and excluding specific genetic tests, based upon clinical validity and utility.
- Prior authorization of all covered tests for eligible employees based upon sound medical criteria.
- Negotiating discounted testing prices and quality/service standards with a contracted network of genetic testing labs.
- Identifying patients, through analysis of medical and prescription claims, who may benefit from genetic testing, and then facilitating their testing.
So Generation Health appears to be one of the first companies to take a stake in the management of genetic testing and, therefore, inevitably, in the management of genomic diseases. In my view, there will be a great need for such services in the long run. It will enjoy a first-mover advantage. The key question is whether the market is ready at this point for such services. There is no question that genetic testing is, and will continue to be, both complex and unnerving for patients and payors. Both of these groups will need all the knowledge and help that they can get.














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