National Geographic debuted the first direct-to-consumer (DTC) DNA tests in 2005, hoping to trace the history of human migration with The Genographic Project. Researchers expected to sell 1,000 kits over the ensuing few years, but 10,000 were sold the first day.
People clearly have a deep craving to understand their genes, and not just so they can discover their ancestry. More people are taking at-home genetic tests to learn what health secrets might be hidden in their DNA.
Scientists are finding more conditions to test for as sequencing methods have improved and costs have fallen. Researchers estimate more than 75,000 DNA tests are available, with another 10 coming onto the market daily.
That’s created an increasingly complicated landscape for patients and their primary care physicians (PCPs). While at-home DNA kits only test for a a handful of genetic conditions, they are often giving consumers information they aren’t sure what to do with. Most people will turn to their PCP, but too often that person is at a loss for what to do next.
Several studies have determined PCPs lack the necessary training and knowledge about genetics and genomics to advise patients or to use test results in clinical management. Most PCP practices are rarely set up to accommodate the “time-intensive visits that counseling on DTC genetic testing results typically require,” according to a 2018 paper in the American Medical Association Journal of Ethics.
Another issue is that most PCPs receive limited genetics education during medical school training and even less once they enter residency and beyond. Those PCPs might not be prepared to lead a patient through the meaning of test results nor can they address a patient’s needs based on a DTC test result. For example, a BRCA1 and BRCA2 negative result on a DTC test in a patient of non-Ashkenazi Jewish ancestry, who has a strong family history of breast and/or ovarian cancer, should be reviewed with caution and might require more comprehensive genetic testing. Such subtleties are not always known to the PCP.
Experts have recommended for years that the medical community identify strategies to ensure that physicians are knowledgeable about genetics and genomic medicine. The American Medical Association’s Journal of Medical Ethics, as far back as 2009, wondered whether nongeneticists were prepared for the rise of at-home DNA testing. The conclusion: No. Last year, the same journal advised primary-care clinicians to be open to questions from patients, but said most should refer their patients to genetic specialists.
PCPs aren’t alone in being the dark about genetics and genomics. Even specialist physicians can be overwhelmed. An American Cancer Society study in 2017 found 93% of pediatric oncologists preferred to speak to a genetic counselor themselves before disclosing parental mutations that might be passed to offspring.
The shared thread here is the need for genetic counseling whenever a DNA test is taken. For those who take these tests at home, the fastest and easiest way to get that much needed counseling is through a company like DNA Ally, which can immediately connect people with genetic counselors. DNA tests can teach people so much about themselves, but they have to listen to the right teachers.