Pat Whitworth MD/

Even Genetic Specialists Make Mistakes: An Education Emergency in Genetic Testing - Genetic Counselor Role Must Change

No doubt most breast specialists have seen this recent report from the outstanding genetics program at Stanford, led by Dr. Allison Kurian. This study documents a lack of critical knowledge in a substantial proportion of surgeons with regard to genetic VUS's, as well as a relatively high rate of mastectomy. Unfortunately the report expresses a "concern" that there is a connection between the surgeons' ignorance and the relatively high rate of mastectomy, in spite of the fact that the findings do not support this concern. Going even further from the actual data in the analysis the report concludes that more genetic counselors, perhaps an expanding genetic counseling mandate, may be the solution to this "problem". These concerns and conclusions only add to the false narrative that more genetic counselors will mitigate the urgent need for CME in genetics (as well as useful tools) in all specialties.
1. The most important finding here supports what we have been saying for some time now. Advances in genetic testing (access, knowledge, relevance to practice) now constitute and EDUCATIONAL EMERGENCY for practically all specialties, certainly for breast care specialists. The error highlighted in this paper happens in the most prestigious medical centers (see https://twitter.com/WhitworthMD/status/708711140335947776 ) as well as in smaller communities. That mistake is very straightforward and it certainly does not require a genetic counselor to avoid it. It is perhaps the most egregious error that has been made by physicians and genetic counselors alike: suggesting that a VUS is meaningful in the management or decision-making for a patient. To put it as simply as possible: A VUS IS NEVER (EVER) MEANINGFUL IN THE MANAGEMENT OF A GIVEN PATIENT; IT IS A NEGATIVE TEST AS FAR AS THE MANAGEMENT OF THAT PATIENT IS CONCERNED. Patients understand we do not know everything about all genes and that we will contact them if we learn something new that affects them.
(by number of new cancers treated in the previous year)
2. In spite of the fact that Dr Kurian is a giant in the field and makes regular contributions to our understanding of genetics and breast cancer, she commits at least two classic logical fallacies: "affirming the consequent" and "post hoc causality" (correlation vs causation). There is literally no evidence that the surgeons' ignorance documented in the study contributed to an increase in BLM. In fact the data in the paper in the graph below show the opposite: BLM was NOT statistically increased in VUS patients, whereas BLM WAS increased in patients <50 and in patients with true pathogenic mutations.
3. So the "concerns" Dr Kurian et al have as a result of the data are not supported by it. Moreover the conclusions she makes ( more genetic counselors are needed; genetic counselors, not physicians should order genetic tests; more referrals would improve care) are in no way supported by anything in the paper. This will be an ongoing challenge because the academics who write most of the papers and comments on genetic testing do not trust physicians to avail themselves of the CME necessary to keep up with the genetic information that is now fundamental to many areas of practice. Furthermore these experts have no real-time experience of the fact that there is no possible way a doubling or tripling (or more) of the number of genetic counselors can meet the need recent advances have brought about. (Dr Kurian has more genetic counselors at Stanford than there are in many states). Genetic counselors must become resources to care teams instead of gatekeepers. We have already seen that patients are harmed by the current Cigna policy that mandates GC referral) (see https://t.co/nJZMZz6ezo , https://twitter.com/WhitworthMD/status/793072084192751616 ).  Physicians must get the required CME and keep up, as they must in all pertinent areas if they intend to practice modern medicine.


Mastectomies have been on the rise for some time (not related to genetic testing):


Pat Whitworth MD

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