Technology has advanced, making direct-to-consumer (DTC) genomic testing more affordable and accessible. “DTC genomic testing has really exploded in popularity over the past few years,” says Cheryl VerStrate, DNP, AGPCNP-BC, OCN, an assistant professor in the Kirkhof College of Nursing at Grand Valley State University in Grand Rapids, MI. VerStrate and a colleague reviewed the literature on DTC genomic testing and ethical implications for clinical care.1 The researchers concluded that the general public and healthcare providers need more awareness of the clinical and ethical consequences of DTC genomic testing.
More people are doing their own research and making medical decisions outside of clinical settings. “This is only exacerbated by for-profit companies targeting them with advertising. Generally speaking, ours is a society that doesn’t like to use healthcare providers as gatekeepers,” observes VerStrate.
However, when patients get confused over the DTC testing results, they turn to healthcare providers for answers. Suzanne Mahon, DNSc, was seeing one or more patients a week specifically because of confusion over the meaning of DTC genomic test results. “As a clinician, I found these cases very frustrating and sad because many of the problems could have been avoided with good pretest counseling from a credentialed genetics professional,” says Mahon, co-author of the paper and a professor emerita in hematology and oncology at Saint Louis University School of Medicine.
Many people like the idea of testing at home, and skipping time-consuming pretest assessment and counseling. “This actually leads to many ethical problems and ends up using more time in follow-up,” says Mahon.
In one such case, a parent gifted a teenager a DTC genomic test. “When the teenager spit in the tube she anticipated learning about her ancestry and things like snack preferences,” says Mahon. Instead, the results came back with the unexpected finding of a pathogenic variant in the BRCA1 gene. Now, the teenager must deal with knowing that lifetime risks of breast, ovarian, melanoma, pancreatic, and other cancers are substantially higher for her than for those in the general population and that risk-reducing surgeries (bilateral mastectomies and eventually oophorectomies) are recommended. “The teenager did not really have informed consent. She suffered harm from the testing in the form of emotional distress — as did the parent who bought the test,” says Mahon.
There are other more far-reaching unintended consequences with DTC testing. Despite the provisions of the Genetic Information Nondiscrimination Act, it could someday be cost-prohibitive for the teenager to ever obtain life or disability insurance. “A genetics professional would have discussed all of this prior to counseling, as well as the potential outcomes of testing,” says Mahon.
Since DTC testing covers only a small number of variants in only a few genes associated with cancer risk, the results are far from comprehensive. “It leads to a false sense of security in many persons who test negative. They may assume that their risk is at least average, and some have the misconception it is even less than average,” says Mahon.
Mahon has cared for many patients over the years who have been devastated when they were diagnosed with cancer and found to have a pathogenic variant in an area of a gene or in a gene that was not tested. Some patients underestimated their risk because of misleading DTC test results, and missed an opportunity for more intensive screening and earlier detection of the malignancy.
From the perspective of the genetics professional, counseling people who had unexpected results from DTC genomic testing is very time-consuming. “It requires general genetic counseling — and also, it requires counseling to deal with the harm that came from the DTC genomic testing,” says Mahon.
Patient-consumers have varying knowledge deficits. “It is our responsibility in healthcare to educate and inform them of risks,” underscores VerStrate.
VerStrate says these are important practices for oncology nurses:
- Be aware of the increase in patients turning to DTC genomic testing to explore their risks of developing cancer.
- Understand that DTC genomic testing typically uses inadequate technology, and is not necessarily comprehensive clinical genomic testing for germline risk.
- Provide comprehensive and ethically sound education, and answer questions about DTC genomic testing for patients and their families.
Mahon recommends that healthcare providers take these steps:
- Find out what the patient hopes to learn from the testing.
If the patient is searching for specific information, there needs to be a discussion about whether genetic counseling is appropriate. The DTC genomic testing typically does not provide comprehensive information about risk. Often, patients are worried about some aspect of their family history. “If a patient believes that the provider is not listening to the concern, they will turn to DTC genomic testing,” says Mahon.
- Take a comprehensive family medical history, updated at least annually.
Carefully assess for potential hereditary risk, discuss the risk assessment with the patient, and, when appropriate, refer the patient promptly for comprehensive genetic testing. “This will go a long way to assure patients get safe and appropriate care,” says Mahon.
- Understand the limitations of DTC genomic testing.
This allows healthcare providers to carefully educate patients about the downsides: unexpected results, potential loss of privacy and insurability in the future, and possible emotional distress.
Some people turn to DTC genomic testing because they think it will save them time and money, compared to having the genetic testing done by a healthcare provider. However, genetic counseling often can be done by telehealth. Additionally, DTC genomic testing is always self-pay, and the costs of genetic testing have decreased in the past few years. Some patients find their insurance pays for the testing and counseling costs, and it ends up costing less out-of-pocket than DTC genomic testing. “Providing patient education about these points is an important responsibility for all healthcare professionals,” underscores Mahon.
- VerStrate CA, Mahon SM. Direct-to-consumer genomic testing through an ethics lens: Oncology nursing considerations. Clin J Oncol Nurs 2023;27:380-388.
