Doc critical of genetic testing without counseling

Marketing genetic testing directly to consumers, from paternity tests to DNA analyses of cancer risk, is a bad bargain for patients and physicians, Massachusetts General Hospital obstetrician/gynecologist Dr. Erin E. Tracy contends, saying testing without proper counseling should be banned.

The field of commercial genetic testing is poorly regulated, with no mechanism to validate claims for tests promoted on Internet sites, she writes in this month's Obstetrics & Gynecology. And legitimate tests should not be pitched to patients without an understanding of what the results mean or whether they fit the patient’s particular history or condition, she said.

“I’m very alarmed that now patients can pay out of pocket for many of these tests and not understand the implications of the results,” she said in an interview. “Physicians should advocate for the abolition of genetics testing in the absence of appropriate physician oversight or genetics counseling,”

Tracy said some patients with no known risk factors for breast cancer are asking her to test them for mutations in two genes that have been tied to a greater risk of breast and ovarian cancers. Testing for the BRCA1 and BRCA2 mutations, which account for about 5 percent of breast cancers, is considered appropriate for women with a strong family history of breast or ovarian cancer.

Tracy links the rise in concern to a marketing campaign that Myriad Genetics launched in September in Boston, Hartford, Providence and New York. The company makes a blood test called BRACAnalysis that detects the two mutations. She worries that women without the risk factors that make testing feasible are using time with her that could be better spent.

"We spend a lot of time talking about why a test is not appropriate, when I should be talking about quitting smoking or eating a healthy diet," she said.

A spokesman for Myriad disagreed with Tracy on two points. First, William A. Hockett III said, Tracy has confused what his company does with test kits that people can order over the Internet.

"The difference between the types of genetic testing that Tracy is concerned with and what we do is that those tests are offered directly to the consumer and the consumer can receive literature and test kits at home and send it in and get results back," he said. "That is not the case with BRCA 1 or BRCA 2 (testing). It has to be provided by a physican and the patient’s blood is drawn in the physician’s office and the test is sent in by a physician. It requires that informed consent has been performed by the physician or office."

He also said there has been no change in the percentage of negative test results during the campaign.

"If inappropriate patients were being tested, you would expect that rate to go down and fewer patients would be found positive," Hockett said. "We think we are testing appropriately and the percentage of positive tests has not changed during this campaign."