Clinical OMICS

MAY-JUN 2018

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 18 of 51 May/June 2018 Clinical OMICs 17 under age 50 (34 of 49; 69%) and white (25 of 49; 51%). For nearly all patients (43 of 49; 88%), the disease gene ana- lyzed was cancer, followed by cystic fibrosis (four patients), connective-tis- sue disorder, and familial Mediterra- nean fever (one patient each). Ambry says further efforts to gather data on a larger cohort are underway. "We are planning on looking at the same issues (false positives and clas- sification discrepancies) in a newly obtained cohort; however, this time we will include a much larger number of genes covering a wider range of dis- eases," Tandy-Connor said. "Depend- ing on the dataset, we may or may not dive into other interesting topics that we see arise in the cohort." A Matter of Interpretation Arthur Caplan, Ph.D., the Drs. Wil- liam F. and Virginia Connolly Mitty Professor and founding head of the Division of Medical Ethics at NYU School of Medicine, said the study's findings highlight why consumers need to follow up genetic testing with genetic counseling. "Direct-to-consumer companies keep saying that the consumer can interpret the results. I don't believe that," Caplan said. "It's hard to inter- pret the results. How you explain risk gets confusing to people. People also have a false sense that if they turn up negative on a genetic test, they're not going to get a disease. A person might not turn up positive for breast cancer gene risk, but it doesn't mean they're not going to get breast cancer. It just means the particular marker for that particular hereditary form is not there." Ambry acknowledged in its study that DTC testing can spark health-re- lated discussions by consumers with their medical providers, whether they order such tests or not. Yet Ambry also cited a review of past research published last year that confirmed "low levels of objective and subjective genetic testing–related knowledge" among primary care physicians—as well as what it termed a shortage of genetic counselors and other trained genetic professionals, in raising con- cerns about how DTC test results are interpreted and used. National Society of Genetic Coun- selors (NSGC) President Erica Ramos, told Clinical OMICs the number of certified genetic counselors currently stands at more than 4,600, and is expected to reach close to 5,000 by year 's end. "Our profession has doubled in size in the last 10 years. And we're expect- ing it to grow at least another 75% in the next 10 years after that. There are very, very few healthcare specialties that are (continued on next page) A recent study led by Ambry Genetics found that rates of false positives among direct-to-consumer genetic tests was as high as 40%.

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