Photo: Pia Christensen/AHCJCharles Piller, Paul Raeburn and Christopher Robertson (left to right) discussed the science of genetic testing on the first day of Health Journalism 2018.
Health insurers struggle to understand whether genetic tests give physicians actionable information about how to diagnose and treat patients’ illness. If health insurers struggle, then journalists certainly will as well. For example, see this tip sheet that Beth Daley (@BethBDaley) wrote for AHCJ when she was at the New England Center for Investigative Reporting.
Genetic testing holds immense promise, but as speakers explained during the “Science of Genetic Testing” session at Health Journalism 2018, misuse and misinterpretation of these tests have undercut that promise. Continue reading
The potential benefits of genetic testing are widely touted and drive greater interest in these tests – even though the validity of the science behind such testing remains unclear.
Charles Piller, the West Coast editor for Boston-based online news site Stat, recently reported on the lack of a firm scientific basis for a test that Proove Biosciences in Irvine, Calif., has been marketing as an “opioid risk” detector. Continue reading
Last month, journalists from the New England Center for Investigative Reporting raised serious questions about prenatal genetic screening tests, saying physicians and patients may not fully understand the results of these tests for fetal abnormalities.
In their reporting, the journalists exposed a symptom of what may be a bigger problem: the proliferation of genetic tests without a full understanding about what such testing can and cannot do. Even health insurers have struggled to understand how to pay for new genetic tests.
The stories also pointed out that federal regulators are wrestling with how to classify genetic tests. Many of these tests fall into the category of what pathologists call lab-developed tests or LDTs. These tests are not regulated by the FDA, as the NECIR journalists reported. In October, the FDA proposed regulating these tests as medical devices and clinical laboratories are pushing back, saying such regulations could interfere with the practice of medicine.
We’ll address these issues one at time. Continue reading
Pamela Fayerman of The Vancouver Sun has been writing about a genetic counselor who has been “relieved of her duties” at the BC Cancer Agency, part of the Provincial Health Services Authority, for allegedly failing to document cases.
Part of the counselor’s duties included making arrangements for genetic testing for people who fit the criteria for having a predisposition to cancer. But patients told Fayerman that “tardiness and lack of communication was part of a disturbing pattern” that led to the personnel action.
Fayerman, through one woman’s story, explains how the delays and lack of communication have affected patients and their families and the decisions they have made while waiting for testing. In the case of one patient:
If she had received results of genetic testing right after being diagnosed, she said, she would have been in a better position to make a decision about having her breasts removed or whether a lumpectomy (which she had) was sufficient. And her other organs might have been spared from damage due to chemotherapy treatment, she says. In addition, she would know sooner about whether her daughter faces an increased risk of breast cancer.
In a blog post, Fayerman says the stories wouldn’t have happened if patients had not called her to tell her their stories. She discusses the “leap of faith” such sources must make and how she handles patients who decide to step forward and share their stories publicly.
VoiceofSanDiego.org‘s Randy Dotinga took part in the growing trend of using genetic analysis to determine risk levels for certain diseases. Dotinga wrote one story after the test itself, and another after his results came back. Dotinga learned that he may be more inclined to pick up colon cancer and a little less likely to get Alzheimer’s. In the process, he also learned that nobody really knows just how useful these tests are.
That’s where Dotina and about 2,600 others come in. In exchange for deeply discounted genetic tests, Dotinga and other test subjects will fill out regular questionnaires for the next 20 years of their lives. The study aims to find out just what folks do with information gleaned from genetic testing, as well just how accurate the testing is.
To hear Dotinga tell it, genetic testing seems similar to regular cancer screenings, in that the benefit in early detection of problems may be outweighed by the cost of testing and the detection of harmless problems and the unnecessary procedures that may result.
“If you get back a report saying you are at risk for 10 things, you have 10 to-dos,” said (Jason Bobe, director of community for Harvard University’s Personal Genome Project). “You may spend a whole bunch of money on a diagnostic odyssey to see if you have these conditions. Along the way, we may save a lot of lives, but spend a lot of money on people getting unnecessary medical care.”