Here’s a new reason to question what some lab-paid genetic counselors tell you: baby Carla Lucia. The healthy girl was born to Jessica and Eugenio Daviso of Andover, Massachusetts despite a pre-natal test result that predicted a high likelihood the baby would have Turner syndrome, a genetic condition marked by short stature and infertility in girls.
As The Eye previously reported, a testing lab’s genetic counselor reinforced that finding, citing a statistic that suggested the test was 99 percent accurate. But experts examining the test and other factors calculated the chance Jessica’s test result was correct was only about 14 percent.
Uncertainty over the test result’s veracity “robbed me of the joys of pregnancy,’’ Jessica Daviso said in an email. Several pediatricians and a neonatologist evaluated Carla at birth and said she seemed fine, but the Davisos decided to have an in-depth genetic test known as a karyotype to be sure. Those results showed no sign of Turner syndrome.
Carla, born in April, is “absolutely perfect,’’ Daviso wrote. Genetic counselors are increasingly working for testing labs where bioethicists worry they may repeat company marketing claims to patients without independently verifying them, causing expectant parents to think the tests are more accurate than they actually are.
About 20 percent of the nation’s more than 4,000 genetic counselors work for labs, according to a survey released in May by the National Society of Genetic Counselors. In 2012, 9 percent did. Some of these counselors advise patients, while others interpret results for doctors, or work in the labs. Jehannine Austin, president of the counseling society, said that while labs employ more genetic counselors the percentage of them that deal with patients has not significantly changed. “
The work of genetic counselors will continue to evolve and all of our activities will continue to be governed by our Code of Ethics, as well as regulated by licensure in certain states,” the statement says. Robert Resta, a genetic counselor who writes for the DNA Exchange blog, said more training and professional supervision is needed to help the industry manage potential conflicts.
Labs should “lay out conflict of interest policies that guide their genetic counselor employees and help reassure patients that they are being provided unbiased, high-quality care,” according to Resta. Daviso, meanwhile, said expectant parents should ask their doctors and genetic counselors whether they receive pay or work for testing labs before making a decision on getting a pre-natal genetic test.
