DENVER, Colo. (Ivanhoe Newswire) — You’ve probably heard of companies like ancestry.com or 23-and-me that offer at-home genetic testing. They are just two of more than 11,000 labs in the u-s that offer this. The FDA only recently started regulating genetic testing, but there are still some less-than-credible labs with a reputation for giving flawed or downright false results … which is scary considering people make life-changing medical decisions, like getting a mastectomy, based on these results.
The first time Marla Strick sent her DNA to a genetic testing lab the results were confusing, until she took them to certified genetic counselor Mary Freivogel at Invision Sally Jobe.
Mary Freivogel said, “What’s frightening is that, first of all, I feel like the technology used by this lab was not good itself, but then the interpretation was not good either.”
Results from the first genetic lab showed Strick didn’t have anything to worry about. But a second test from a more credible lab found a gene mutation that doubles Strick’s chances of developing breast cancer. Even though she’s only 34, Strick will now begin yearly mammograms, something she wouldn’t have done if she had relied on results from the first lab.
Strick said, “That could’ve been, like I said, completely life-changing in multiple ways. If it would’ve came back with BRCA and I went and got a double mastectomy and then it was actually negative, that’s huge.”
The FDA has started reviewing the accuracy of genetic tests and says they should only be done on the advice of a doctor or certified genetic counselor. But thousands of home DNA kits are sold online. Before you buy one, first, make sure the lab is certified by the clinical laboratory improvement amendment. Second, ask a genetic counselor to interpret your results. And third, avoid companies that push vitamins or other products as a way to prevent disease.
It’s also preferable to find a legitimate genetic counselor who doesn’t have financial ties to the company doing the testing. You can check out the national society of genetic counselors at nsgc.org to find one near you.
Contributors to this news report include: Jessica Sanchez, Field Producer; Rusty Reed, Videographer; and Jamie Koczan, Editor.
FAULTY GENETIC TESTING
BACKGROUND: How accurate are genetic tests exactly? Not as accurate as many people believe. Faulty findings result in people being told to worry when they do not need to, or vice versa. Researchers are saying that consumers have to be careful about where to get a gene test and check the results as quickly as possible. Heidi Rehm, the genetics lab chief at Brigham and Women’s Hospital in Boston states that when a person decides to get tested, whether it’s at a doctor’s office or by sending a swab to a private company, patients need to choose labs that are sharing their data with the broader research community so scientists can compare and learn from the results and make testing more accurate for everyone. There are two main measures of accuracy applied to genetic tests: analytical validity and clinical validity. Analytical validity usually means how well the test will predict the presence/absence of a particular gene or genetic change. In simpler terms, it’s a test to determine whether or not there is a specific genetic variant present. Clinical utility refers to whether the test can provide valid information about diagnosis, treatment, management, or prevention of the disease for the consumer. All labs that perform health-related testing, including genetic testing, are forced to follow federal regulatory standards called the Clinical Laboratory Improvement Amendments (CLIA). The CLIA standards cover how these tests are completed as well as quality control and testing procedures for each laboratory. However, CLIA standards don’t cover the clinical validity or clinical utility of genetic tests; it is the Food and Drug Administration (FDA) that requires information about clinical validity for certain genetic tests. Health providers, consumers and health insurance companies are the ones who determine the clinical utility of a genetic test. Genetic tests are usually performed on a sample of blood, hair, skin, amniotic fluid or other tissue. The sample is then sent to a laboratory where technicians seek specific changes in chromosomes, DNA, or proteins depending on the suspected disorder. The test results reported by the laboratory are then reported in writing to a person’s doctor or genetic counselor, or directly to the patient if requested.
(Source: http://www.cbsnews.com/news/how-accurate-are-genetic-test-results/, https://ghr.nlm.nih.gov/primer/testing/validtest)
THE STUDY: Millions of people a year get genetic testing in the U.S. There’s no guarantee that the 13,000 lab-based genetic tests work efficiently since the companies that make them are not required by the FDA to provide proof of accuracy. According to a 2014 study in the New England Journal of Medicine, a prenatal genetic test that looks for an extra chromosome that can dramatically delay fetus’ development, known as Edwards syndrome, was only effective 40 percent of the time. According to an NECIR story, another test using genetic information to determine the development of breast cancer costs $775,278 for every false negative “because the patient was probably given the wrong treatment.” As a result, greater regulations have been called for by the FDA.
* For More Information, Contact:
On behalf of National Society of Genetic Counselors
Free weekly e-mail on Medical Breakthroughs from Ivanhoe. To sign up: http://www.ivanhoe.com/ftk