Is genetic discrimination an urban (suburban, exurban) myth?

As a genetic counselor specializing in hereditary cancer syndromes, hardly a day goes by without questions like:

• "If this goes in my record, can I lose my health insurance and life insurance?"
• "If I have a mutation, will my kids still be able to get health insurance?"
• "If they know I have a higher risk for breast cancer, can they refuse to cover my treatment?"
• "My PCP said that if I test positive, they could cancel my health insurance. Is that right?"

The answers are: no, yes, no, and no.

The legal protections:

The HIPAA (Health Insurance Portability and Accountability Act) law, passed in 1996, states that insurers may not view the results of a genetic test as a pre-existing condition.

This law also requires that health insurance coverage be portable from job to job. In other words, as long as the insured does not have a significant lapse in coverage, the new group insurer must provide comparable coverage, regardless of previous medical history.

Most states also have laws that prohibit discrimination by health insurers and employers based on genetic test results.

The practical reality:

My experience as a genetic counselor over the past 3 years leads me to believe that the fear of genetic discrimination is overblown, and may in itself do more harm than actions by insurance companies.

For some people, the result of a genetic test may prove life-saving. To explain that dramatic statement, allow me to provide some background.

About 10% of cancer is known to be hereditary: that is, caused by an inherited mutation in a single gene. For example, a woman who inherits a mutation in the BRCA1 or BRCA2 gene faces up to an 80% lifetime risk for breast cancer, and up to a 40% risk for ovarian cancer. (Compare that with the population risks of 10-12% lifetime risk for breast cancer, and less than 1% lifetime risk for ovarian cancer.)

Women with a family history of breast and/or ovarian cancer, especially pre-menopausal breast cancer, may be offered a blood test to detect mutations BRCA1 and BRCA2. In most cases, this test is only offered in the context of genetic counseling to insure informed consent and proper follow-up.

If a mutation is detected, increased surveillance and/or prevention options are recommended, based on the best currently available evidence from the medical literature and the patient'spersonal preferences.

Yes, some of those options are drastic. Because we still do not have effective screening for ovarian cancer, approximately 70% of ovarian tumors are not detected until after they have infiltrated the abdomen. The prognosis is often grim.

Therefore, the recommendation for a woman with an inherited mutation in BRCA1 or BRCA2 is to have preventive salpingo-oophorectomy (removal of ovaries and fallopian tubes) after she is finished with childbearing. Studies show that in 10- 15% of women with BRCA1 or BRCA2 mutations having this preventive surgery, occult ovarian cancer is already present.

Thus my daring statement about the possibility of this genetic test saving lives.

If such a woman refuses testing for fear of discrimination, where is the greatest possibility for harm?

In my experience, health insurers have become more and more willing to cover BRCA1/BRCA2 sequencing because they understand that it is solid preventive medicine. And they are much more willing to cover, for example, breast MRI's for women known to be at higher risk.

I welcome the opportunity to blog here, and welcome feedback. My hope is to help guide conversation about genetic testing and discrimination toward the realm of its practicality in the context of medical care, and away from fear, based on imaginative "what if's ....?"

Of course there are larger societal issues regarding insurance coverage and medical costs. I am saddened and ashamed that millions of Americans have no health insurance at all. For them, a $3000 genetic test is out of the question. Let's put those concerns in the political arena where they belong by electing legislators who will push for universal coverage.

And for the women who we know are facing an 80% risk for breast cancer, let's try and make sure they can get the best preventive care available to save their health and their lives.