Recently, the Science section of the New York Times published an interesting article, The Limits of Online Genetic Tests. It discusses a lack of rigor that often leads to false results about mutations.
Dr. Joshua Clayton decided to order a set of tests from 23andMe, a popular genetic testing company. He also sent the results to Promethease, which offers a more in-depth analysis for genetic mutations that cause disease. When Dr. Clayton’s report came back, he was informed that he carried a gene for Lynch syndrome. People who carry the mutation are much more likely to be diagnosed with a special type of bowel cancer (as well as other cancers).
After getting over the initial shock of the diagnosis, he consulted an expert in Lynch syndrome. His sample was sent to a medically approved lab and the results clearly indicated he DID NOT have Lynch syndrome. There have been reports of others who sent DNA samples to several different commercial companies for ancestry evaluation and received radically different results.
The companies say that these reports are just for entertainment and not for medical diagnosis. Just because no one is regulating these companies doesn’t mean they are not responsible for incorrect reports.
I do not encourage my patients to get these amateur genetic tests. For one thing, they can lead to unnecessary stress and additional medical testing. For another, they could lead to problems getting life, disability, long term care or even health insurance if Obamacare is eliminated. And the results may actually be wrong.
In addition, many of these genetic tests are new and doctors don’t always know what to do with the results. Many women that are BRCA positive are submitting to preventative surgeries on their breasts and female organs without clear data on their benefits and risks.
Dr. Joshua Clayton decided to order a set of tests from 23andMe, a popular genetic testing company. He also sent the results to Promethease, which offers a more in-depth analysis for genetic mutations that cause disease. When Dr. Clayton’s report came back, he was informed that he carried a gene for Lynch syndrome. People who carry the mutation are much more likely to be diagnosed with a special type of bowel cancer (as well as other cancers).
After getting over the initial shock of the diagnosis, he consulted an expert in Lynch syndrome. His sample was sent to a medically approved lab and the results clearly indicated he DID NOT have Lynch syndrome. There have been reports of others who sent DNA samples to several different commercial companies for ancestry evaluation and received radically different results.
The companies say that these reports are just for entertainment and not for medical diagnosis. Just because no one is regulating these companies doesn’t mean they are not responsible for incorrect reports.
I do not encourage my patients to get these amateur genetic tests. For one thing, they can lead to unnecessary stress and additional medical testing. For another, they could lead to problems getting life, disability, long term care or even health insurance if Obamacare is eliminated. And the results may actually be wrong.
In addition, many of these genetic tests are new and doctors don’t always know what to do with the results. Many women that are BRCA positive are submitting to preventative surgeries on their breasts and female organs without clear data on their benefits and risks.
As with most things,
Let the Buyer Beware!
Let the Buyer Beware!
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