Genetic Privacy Part 1: The Case Against

case-for-genetic-privacy The debate about who should have access to genetic test results has been argued for decades. There are many factors to consider, including: individual rights, the rights of family members, medical liability, insurance issues, and the betterment of scientific research. In this two-part series I’ll focus on some of the real clinical and family issues that have come up during my years as a clinician in the trenches. This post illustrates the potential harm done when the patient chooses not to share data. Next week we’ll publish a counter argument.

As a genetic counselor, one of my primary responsibilities is to explain to the patient the implications of test results, both on his/her health and management and on other family members: children, siblings, parents, cousins and even relatives they don’t know.

A decade ago I counseled a woman, Tracy*, with advanced ovarian cancer and a family history of breast cancer who tested positive for a mutation in BRCA2. Tracy’s clinicians had discussed her prognosis with her, and Tracy understood that, sadly, it was poor. She pursued genetic counseling and testing for the benefit of her two sisters and small daughter. During the counseling session, Tracy confided that she had given up a daughter for adoption in college and that her family never knew. The daughter would by then be 24 years old. I explained to Tracy the importance of tracking down this daughter through the adoption agency or using on-line tools, but she was afraid her parents would learn her secret and that it would further devastate them as they watched their daughter die. This young 24 year old was at 50% risk to carry her biological mother’s BRCA2 mutation. I implored Tracy to let me track down the daughter, but she chose to take time to think about it, and then died a few months later. I’ve thought about Tracy’s daughter dozens of times over the years. Will she ever discover and learn her biological family history on her own? Or will she needlessly be diagnosed with an advanced breast or ovarian cancer?

I documented the early death of my sister’s close friend, Kristina*, in a clinical commentary called The Incentive. Kristina was unaware that in her family there was a known BRCA1 mutation that had ravaged paternal relatives with breast and ovarian cancer. Kristina’s extended family knew about this BRCA1 mutation and, due to poor communication, did not notify their relatives. Therefore, Kristina had no reason to think she was at high risk to develop breast cancer and, like most young 30-year-olds, she had never had a mammogram. Kristina’s hidden family history didn’t emerge until after she felt a large lump in her breast. Kristina died at age 31.

Another patient who had survived two bouts of aggressive, early-onset colorectal cancer learned that he carried a mutation in a gene called MSH2 associated with Lynch Syndrome. I explained to Steve* the inheritance pattern of MSH2 and why his 26-year old daughter and 50-year old sister should be offered genetic counseling and testing immediately. Steve told me that his daughter was very busy in her life and he didn’t plan to worry her with this information, even though his first colon cancer was diagnosed at age 28. Even more troublesome, he shared that he and his sister didn’t get along, and that she and her three children would need to figure out their risks on their own – just as he had. This decision left those relatives at high risk to carry the familial MSH2 mutation at increased risk for several cancers, including colon, uterine and ovarian. These relatives were left blind to the possibilities of the early, aggressive surveillance and risk reduction opportunities available to people with Lynch syndrome.

Genetic testing gives us the hope of reducing the risk that disease will strike in the next generation. We have the power to change the future our genetics has imprinted upon us – but only if we share the information.

Should individuals have the right to withhold their information? Should health providers, insurers or the government intervene? Next week we’ll share the other side of this complicated argument.

*Clinical details and names have been changed.

Photo by Kevin Shorter, via Flickr.