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 a high risk of developing breast and/or ovarian cancer. Harmful mutations in BRCA1/2 can cause a 5-fold increase risk of developing breast cancer and greater than 10-fold increase in risk of developing ovarian cancer. Harmful mutations in BRCA1/2 “account for 5 to 10 percent of breast cancers and 10 to 15 percent of ovarian cancers among white women in the United States,” and 1% of the population is a carrier for a harmful BRCA1/2 mutation.

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.

However, I do not necessarily agree with critics that recommend government oversight of these genetic tests. Although there may be a significant number of physicians who are currently misinterpreting genetic test results (it is difficult for me to assess this problem because I am neither a physician nor a genetic counselor), I think this can be improved over time with changes in medical training and public education about the role that genetic counselors can play in making medical decisions. In other words, I think legal intervention may not be necessary to improve the interpretation of medical diagnostics.

1 comment:

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


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