More patients are confused about genetic tests, says advocacy group

  Genetic tests for common medical conditions and disorders have become more in demand in the past years. The popularity increased even more when celebrities and universities began publishing their genetic information online, and direct-to-consumer genetic companies sprouted like mushrooms. Soon, genetic tests could become a common diagnostic tool at the doctor’s office.

Getting access to our risk information is relevant to making informed decisions about our lifestyle. The hope is that if a person will understand his risk, say, for certain cardiovascular diseases, then he will take better care of himself to avoid getting the disease.

And that’s where the shortcomings lie. Sue Friedman, executive director of the patient advocacy group Facing Our Risk of Cancer Empowered (FORCE) says patients don’t always get the correct interpretation, or access to experts and  genetic counselors who can provide them all the information they need.

“Physicians are being told [by genetic testing companies] they should be doing genetic testing in their office and being given access to genetic test kits without any real guidance about what information should be provided up front, how to do a full genetic counseling session, and what the limitations are of the genetic tests being promoted.

Friedman cites an example of a rare syndrome similar to breast and thyroid cancer that the BRCA tests will not find.

I’ve gotten calls from people who have had breast cancer and thyroid cancer in their family, which can be Cowden syndrome and they were given BRCA testing. And I worry that those people, if they haven’t been to a genetic counselor’s office, that’s going to be the end of the story. They are going to be told that there is no risk of a hereditary syndrome, and no further follow up is going to happen for them. That’s false reassurance and they’re missing the potential to get an answer. There are syndromes out there that are less common for which there aren’t commercially-available tests. So, there’s less interest in that from the testing companies, so doctors get less information. The lack of information is not the same as a negative test result.

Friedman talked to the Pharmacogenetics Reporter and talked about the inadequate information that patients are getting when genetic companies directly market tests to them or to physicians who are not certified to counsel. Read the thought-provoking interview here.

image: Newscom