Researchers surveyed 47 patients with cystic fibrosis and 65 parents of children with cystic fibrosis to assess their views on direct-to-consumer carrier tests; most indicated they preferred healthcare systems to provide testing, as opposed to commercial companies.1
Michelle L. McGowan, PhD, associate professor of women’s, gender, & sexuality studies and bioethics at The Pennsylvania State University in University Park, notes that a precedent has been set in the U.S. that certain types of genetic risk information are more appropriately delivered by a healthcare provider.
“A more complex question is what sort of commercial labs are best positioned to market cystic fibrosis carrier testing,” says McGowan. At present, such testing can be made available to patients through a single gene test or large multi-gene disease-targeted panels. McGowan is currently conducting research on how physicians are utilizing these options.
“Many fertility practitioners are finding that multipanel testing is offering more bang for the buck, because it can offer much more risk assessment than the single gene testing,” says McGowan. Providers should consider the following ethical questions, she says:
• Based on their racial-ethnic heritage or family history of cystic fibrosis, what’s the most appropriate test for this in this particular patient?
For patients who are already pregnant when they get tested, “options are ethically fraught,” says McGowan. These include termination of the pregnancy or preparing to care for a child with cystic fibrosis.
• Should costs be a consideration?
If the patient is tested pre-conception, options include testing of embryos prior to implantation, using a gamete donor, or adoption. “All of these have expenses associated with them that can’t be anticipated by the offer of testing,” says McGowan. “This is one of the big issues that prospective users of this test should keep in mind.”
The test itself may not be expensive. But after learning the results, patients will then be faced with choices that have costs that aren’t always covered by insurance. “If people want this information, I think it should be available to them. We should not be withholding information that might be beneficial,” says McGowan. “But patients should be fully apprised of what the range of options are, and associated costs.”
• Who should be interpreting the results?
Providers aren’t necessarily experts in genetics and often rely on the labs for interpretation; labs might not be experts in the full range of genomic implications of a given test, and are for-profit centers. “What we are seeing is that the tests are being offered by OB-GYNs and reproductive endocrinologists offering fertility services, as opposed to medical geneticists or genetic counselors,” says McGowan.
Companies are presenting tests in terms of being able to rule out concerns about the health of the fetus. “But, in fact, these tests are specifically designed to find out if there is anything wrong with a fetus,” says McGowan. “To frame it as a technology of reassurance is ethically problematic.”
Currently, says McGowan, “we don’t have good measures of public demand or understanding of direct-to-consumer genetic tests. As genetics gets more fully integrated in healthcare, there will be a stronger demand from releasing it from medical control.”
- Janssens S, Kalokairinou L, Chokoshvilli D, et al. Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status. Personalized Medicine. 2015;12(2):99-107.
- Michelle L. McGowan, PhD, Associate Professor of Women’s, Gender & Sexuality Studies and Bioethics, The Pennsylvania State University, University Park. Phone: (814) 865-5480. Fax: (814) 863-3578. Email: firstname.lastname@example.org.