Wednesday, March 3, 2010

Who should be responsible for genetic counseling?

Today, I read a GenomeWeb article regarding a debate on whether Myriad Genetics’ BRCA test (BRACAnalysis) should be interpreted by primary care physicians or genetic counselors. Myriad claims that primary care physicians can and should interpret the test results, but critics claim this can result in inaccurate interpretation of test results.

Certain mutations in BRCA1 or BRCA2 genes can lead to an increased risk of developing breast and/or ovarian cancer. I am trying to keep track of notes about BRCA risk here, and prevalence of high risk cancer genes here.  So, I welcome input from others, and I have modified some of the content in this paragraph since the original post.

At least one survey from Medco indicates “most [doctors] believe that personal genomic information can be useful in their care for patients and help them make treatment decisions [but] the majority said they do not know enough about such tests.” In contrast, a different survey reports that “community-based physicians appeared to be successful incorporating BRCA1/2 testing into their practices.” However, a majority of these doctors utilized the assistance of some sort of genetics expert when making decisions about patient care. Myriad also emphasizes the paucity of genetic counselors, but critics have pointed out that Myriad fails to inform doctors that telephone-based genetic counseling is available and, in fact, required by certain insurance companies such as United Healthcare and Aetna.

I do think patients should be given the option of talking to a genetic counselor, and I think most physicians would benefit from at least informally discussing the details of a specific genetic test with a genetics expert. In general, patients should always seek out second opinions if they do not feel comfortable with their physician’s advice, and I would also advocate that patients conduct some independent research. For example, the National Cancer Institute provides a lot of useful information on BRCA1/2.

More than 10 years after the original post, I think some of my impressions have changed.  However, I still believe that changes in medical training and public education about the role that genetic counselors can play in making medical decisions is important. I also still hope that legal intervention may not be necessary to improve the interpretation of medical diagnostics.

Change Log:

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4/23/2021 - add links to newer posts with notes about estimating BRCA risk / prevalence (since I think the numbers in the original post might have given the wrong impression).

Also, change concluding paragraph, which originally included this link, where I think I down-played the importance of oversight (and I myself have certainly been submitting FDA MedWatch reports for multiple more recent genomic results).


  1. Yale Cancer Counseling provides a great breakdown here:
    Thanks! Jordanna Joaquina, MS, CGC
    Director of Genetics/Co-Founder

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