BRCA Screening: Good Sense or Gattaca Rising?

Kathy D. Miller, MD


September 24, 2014

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This is Dr Kathy Miller, here to ask you to think about what the world might be like if we embraced population-based genetic testing for BRCA1 and BRCA2.

First let me address the naysayers who suggest that this is a slippery slope toward the world of Gattaca, where nothing as important as conception is left to chance, and embryos are engineered to be as healthy as possible and the world becomes segregated. The world of Gattaca is highly hierarchical, on the basis of your genetic heritage. That is not what we are suggesting at all.

We are merely suggesting that screening should be an option and should be population-based if the disease is a significant public health problem. That is certainly the case for breast and ovarian cancer, if we can identify the risk of developing a disease for patients screened in a population-based screening effort.

Thanks to new work recently published in the Proceedings of the National Academy of Sciences,[1,2] Dr. Mary-Claire King and her colleagues in Israel have given us those data. For screening to work, an intervention must exist that is available to patients, would be acceptable to many, and is known to reduce the risk for morbidity and mortality. That is certainly the case for prophylactic oophorectomy and prophylactic mastectomy.

So, what is holding us back? There are unresolved issues here. We need to address who is screened and who does the counseling. We need more education in the primary care setting about genetic testing, and we need to decide what test results are relayed to patients, particularly in a non-Ashkenazi Jewish population. We need to deal with variants of unknown significance and perhaps not report them, but only report the genes known to have a deleterious effect. We need to talk about potential implications for insurability and employment, none of which have been a reality for our patients but continue to be concerns.

Let’s look at what happens now. Patients are referred for screening on the basis of their own diagnosis or a strong family history, but when it comes down to it, we don't do it very well. Many patients who would meet current testing guidelines simply aren't referred for testing. They and their families aren't given the opportunity to have this information. Of importance, in the population-based study that Mary-Claire and her colleagues recently published, half of the women who were identified would not have been referred for testing because their family histories simply weren't very striking. Often this was because they had small families without enough women to give information to the point of raising suspicion.

What would we gain? We would gain more knowledge, more prevention, fewer diagnoses, and fewer women dying from genetically driven diseases that could be prevented. There are barriers, but they don't strike me as insurmountable if we take up this charge.

I would love to hear your thoughts on this. If you haven't seen the movie Gattaca lately, check it out. It's worth another look.


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