DTC's Harms?

Boston Children's Hospital researchers say erroneous DTC results nearly caused a misdiagnosis and mistreatment.

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This is exactly what DTCs are

This is exactly what DTCs are meant to provide - information to the consumer to double check with their physicians such that definitive tests covered by third party insurers are justified (medically indicated), run and used appropriated as medically actionable, FDA approved and CLIA certified, clinical test results.

The more critical question here is, "What had the physician currently caring for Dr. J. planned to detect this possibility?" - seems there was no plan.

Thus personalized medicine that is proactive and participatory from the patients' perspective worked in this case. There should be praise for the entire system working properly first and then the consistent word of caution that only the critical definitive clinical test results from a qualified laboratory can be used for the medical decision on personalized treatment. That is what incorporates DTC and clinical professionalism into precision medicine.

This was a success story. Great work by the clinicians to perform the appropriate follow through and use their clinical reasoning.

Balance this will all of the

Balance this will all of the positive feedback from DTC, and it's a non issue. OF COURSE you would never treat based on a single diagnostic test; validation is always used in medical testing of any kind (or at least reputable). Sequencing errors are common in all sequencing projects. The headline here is editorializing and just the type of shady journalism that is not expected from The Daily Scan. Shame on you, and shame on you for not pointing out that DTC DOES NOT RECOMMEND treatment based on any DTC results, merely to be used as a guide.

Agree- terrible headline. I

Agree- terrible headline. I myself had a DTC result that was considered relevant to my treatment, and you better believe I had them validate it before I allowed it to alter my care.

There seems to be an

There seems to be an underlying assumption in the article that physicians never mis-prescribe drugs or miss diagnoses. But I know from direct evidence that medical practice is far from perfect. Therefore, I think that the correct question is whether DTC is NET good or NET harmful. Personally, I believe that better informed patients are a net good.

Agree with the above. We can

Agree with the above. We can all possibly benefit from that peek at our blueprints. Some people may benefit more than others, but you don't know whether or not you are one of those people til you see the results. Of course we have to realize what the limitations are in genetics as in every other branch of medicine. A result that does not make sense should be taken with a grain of salt - we ALL repeat labs that don't fit the picture, don't we? And we ALL require confirmation of highly significant data -my hospital has just started to require confirmatory T&C before type-specific blood transfusion, for example.

Last year, the FDA raised the

Last year, the FDA raised the issue of VALIDITY of 23andme genotyping results. The company refused or was unable to report the accuracy of their array-based genotyping results and what they planned to do about inaccurate results. Not clear from THIS article if the genotyping results were incorrect or only the interpretation of the results.

QUOTE: However, that was not

However, that was not mentioned on the front page of the DTC report, and although Dr J. has a PhD, he did not read the “technical report,” which discusses the fact that *3B and *3C often exist on the same gene copy, defined as the *3A allele. This lack of clear, concise, and understandable front-page information led Dr J. (and others) to assume that the *3B and *3C variants were on different chromosomes, resulting in him having a homozygous variant phenotype.

(He turned out to be 3A with only partial instead of severe disease.)