Making Ethical Decisions on Genetic Testing, Precision Medicine
Integrating precision medicine and genetic testing into clinical care poses many ethical challenges, and is the focus of a position paper from the American College of Physicians.1
According to the paper, physicians are obligated to consider the benefits and harms of genetic testing. They must be prepared to engage in discussions with patients, and offer assistance in understanding the risks, benefits, and uncertainties of direct-to-consumer genetic testing. Finally, clinicians must safeguard privacy, security, and confidentiality of patient information.
Genetic testing, like any testing, should be guided by the best interests of the patient, using scientific evidence and ethical standards, says Charis Eng, MD, PhD, FACP, chair of the Genomic Medicine Institute at Cleveland Clinic.
“The clinician’s ethical responsibility to practice high-value care requires consideration of the benefits and harms of any test based on the scientific evidence,” Eng explains.
When germline genetic testing is considered, the clinician (unless the clinician is a geneticist) should refer to genetics professionals.
“The standard of care is to only offer genetic testing in the setting of pre-test and post-test genetic counseling,” Eng notes.
The only exception to accompanying genetic counseling may be pharmacogenomic (PGx) testing. “Given the knowledge accumulating for PGx, my question is: Is it ethical in this day and age not to offer PGx testing to all patients?” Eng asks.
Since patients are coming from diverse ancestries, says Eng, this means “PGx alleles abound ... leading to diverse, often unfavorable, reactions to drugs.”
There are patients who are taking a medication, undergo PGx testing, then go on a different drug because of the results. “The main goal of precision medicine and genetic testing as it relates to clinical care is to develop meaningful biological groups within a disease category or diagnosis to guide personalized treatment,” says Timothy B. Niewold, MD, FACR, vice chair for research in the department of medicine at Hospital for Special Surgery in New York City.
For example, in cancer, some therapies are guided by the genotype of the tumor, targeting a specific gene and providing personalized treatment. “In immune system disorders, such as autoimmune diseases, we have not yet achieved this level of precision. But I’m hopeful,” Niewold says. “It is an exciting time in medicine.”
Other ethical considerations center around the privacy of the patient’s genetic information. The same concerns exist for family members who may carry the same genetic variations.
Some of those people will want to know if they carry a genetic risk factor, and others will not. In these cases, a genetic counselor, ethicist, or other specialized staff may be helpful in counseling the family, along with the physician.
“Another ethical issue is the appropriate representation of populations and social justice,” Niewold adds.
The genetic drivers of disease can vary between world populations. Results from one population may not carry over to another population.
“Thus, populations that are not studied may not benefit from new therapeutic advances,” says Niewold. “There is a great need to be inclusive.”
Since genetic information is medical in nature, it is best integrated into clinical care in a team care model, according to Niewold. Ideally, members of this team are experts on the disease, along with the genetic testing and interpretation of results. They also should be experienced in genetic counseling. Ethics consultation can be helpful, as conflicts might arise between family members.
“Given the fast-moving nature of this field, input from medical ethicists will be important in shaping and adapting healthcare policies around genetic information,” Niewold concludes.
1. Lehmann LS, Sulmasy LS, Burke W. Ethical considerations in precision medicine and genetic testing in internal medicine practice: A position paper from the American College of Physicians. Ann Intern Med 2022. Online ahead of print.
Physicians are obligated to consider the benefits and harms of genetic testing. They must be prepared to engage in discussions with patients, and offer assistance in understanding the risks, benefits, and uncertainties of direct-to-consumer genetic testing. Clinicians must safeguard privacy, security, and confidentiality of patient information.
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