August 10, 2022 -- Rapid advances in genetic testing technology are contributing to precision medicine, but the application of genetic tests should be based on the best interests of the patient, scientific evidence, and ethical standards, according to a position paper published recently by the American College of Physicians (ACP) in the Annals of Internal Medicine.
The authors noted that tests for specific genetic variants, polygenic risk scores, multicancer early detection tests using cell-free DNA, and whole-genome sequencing are among the emerging approaches for testing.
Nonetheless, these testing approaches pose ethical questions. "Whether or not to use genetic tests or adopt technologies such as genome sequencing in clinical care and, if so, when and how to do so needs careful consideration," the authors wrote.
The authors emphasize that physicians' ethical responsibility to practice high-value care requires that they use scientific evidence to consider the benefits and harms of a test.
"Good clinical ethics depends on sound clinical evidence. As with any medical test, there is an ethical responsibility to ensure that a genetic test is clinically indicated for the patient, a judgment that involves many considerations," the authors wrote.
Overall, the ACP position paper aims to inform ethical decision-making for the integration of precision medicine and genetic testing into clinical care.
The paper was developed by ACP's Ethics, Professionalism, and Human Rights Committee in response to how rapid advances in genome sequencing have generated genetic testing technologies that can contribute to precision medicine.
The guidance is intended to complement and provide more specificity to prior guidance outlined in the ACP Ethics Manual.
The authors noted that genomic testing may predict diseases or detect one's susceptibility to a medical condition, but it cannot prevent, treat, or cure any identified condition. Such technology presents novel challenges by identifying disease risk not only for patients, but also for family members who may not be aware of, or interested in, obtaining information on their risk for disease, they added.
According to ACP, testing must be clinically indicated for the patient and consideration must be given to whether test results will affect clinical decision-making. The benefits of genetic testing are greatest when it is used to answer an actionable clinical question, with the findings translated into treatment recommendations, the authors noted.
Clinicians should inform patients before testing of the potential to uncover information that is incidental to the reason for testing, often with uncertain disease associations or implications regarding familial relationships and identity. Additionally, according to ACP, physicians should discuss with patients the opportunities and ethical challenges of genetic testing and precision medicine.
Importantly, as the use of genomic testing increases, patients will turn to primary care physicians to guide them regarding appropriate test use, risk assessment, prevention options, and treatment decisions.
According to the authors, patients and clinicians will have to appreciate the nuanced distinctions between highly predictive genetic variants that indicate the presence of inherited conditions and tests that offer probabilistic information, sometimes indicating only low or moderate risk.
Educating healthcare teams and creating an infrastructure for clinicians to easily access genetic counselors will be critical to the responsible integration of genomics into clinical care, the researchers wrote, adding that patients will need assistance from their physicians to understand the risks, benefits, and uncertainty of direct-to-consumer genetic testing.
ACP discourages the use of DTC genetic testing and recommends that testing be undertaken in the context of a patient-physician relationship with appropriate counseling. Physicians, healthcare systems, and others with access to patient data must safeguard the privacy, confidentiality, and security of patient information, including genomic information, ACP noted.
Further, physicians must improve their own genetic literacy by implementing an ongoing, lifelong learning approach so that they can engage with patients in informed conversations about the appropriateness, risks, and benefits of genetic testing and precision medicine.