Saturday, November 30, 2013

A Letter to FDA in Favor of Gene-Testing

To whom it may concern:

I am writing to voice concern at your decision to ask the company 23andMe to halt genetic testing.

As a doctor, I am well aware of both the importance of genetic testing in medicine and of the difficulty in getting these tests through the normal medical system. Many of my colleagues do not know of the existence of personal genomics, and believe that genetic testing is a once-in-a-blue-moon procedure to be ordered only when there is high clinical suspicion for a rare disease such as cystic fibrosis.

Even in cases where doctors are willing to use genetic information to help in treatment, they have few good options within the standard medical system. Tests for a single mutation may cost several hundred dollars, in addition to the expensive consultation with a physician necessary to order the test and the second expensive consultation with a physician necessary to receive results from that same physician. These are rarely covered by insurance, especially for poorer patients. Patients are rarely willing to purchase these expensive tests out-of-pocket, and when they do, both patient and doctor must wait weeks for each individual result they want.

In contrast, 23andMe has raised awareness of genetics among the general population and given them questions and concerns, usually appropriate, which they can discuss with their doctor. Their doctor can then follow up on these concerns. Such followup may involve reassurance, confirmation with other genetic testing, confirmation through other diagnostic modalities, or referral to another professional such as a genetic counselor. In my experience personal genomic results do not unilaterally determine a course of treatment, but may influence an ambiguous clinical picture in one direction or the other, or be a useful factor when deciding between otherwise equipotent medications. Banning the entire field of personal genomics in one fell swoop would eliminate a useful diagnostic tool from everyone except a few very wealthy patients.


- Read the whole letter here from Scott Alexander, MD, BCh, BAO


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