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Genetic Testing Should Be Guided by Patients' Best Interests, ACP Position Paper Says

NEW YORK — Before seeking genetic testing for their patients, physicians should consider the possible benefits and harms of doing so, according to a new position paper from the American College of Physicians (ACP).

This position paper, which was published Monday in the Annals of Internal Medicine, builds on guidance in the ACP ethics manual that notes that while precision medicine approaches aim to improve diagnoses and personalize treatments, they also raise a number of issues. The new position paper developed by ACP's Ethics, Professionalism and Human Rights Committee aims to address the ethical questions raised by advances in genome sequencing and other genetic testing technologies.

Like any clinical testing, whether or not genetic testing is pursued should be guided by the patients' best interests and the scientific evidence and meet ethical standards, according to the ACP. The decision should include discussions with patients on the opportunities and challenges of precision medicine. This further means that physicians will need to improve their own genetic literacy.

"Despite advances in genetic technology that can impact decision-making as it relates to issues such as risk assessment, pharmacologic selection, or even guiding cancer treatment based on genetic markers, some key questions that physicians need to ask to make sure the genetic testing is warranted is the clinical validity of the test, the associated costs, the applicability of the test to the patient's case, and risk or unintended consequences of testing," Ryan Mire, the president of ACP, said in an email.

This, the position paper added, includes not only an assessment of the analytical and clinically validity of the test and its clinical and personal utility, but also its sensitivity and specificity.

Patients should further be made aware that genetic studies have largely been conducted in populations of European ancestry and that the results thus may not be generalizable to other populations and that certain types of testing could reveal secondary findings, genetic risk information unrelated to why they underwent testing in the first place, and genetic information relevant to family members.

According to ACP, the "benefits of genetic testing as part of precision medicine are greatest when used to answer an actionable clinical question and when the genomic findings can be translated into treatment recommendations."

Additionally, ACP said that physicians should be equipped to discuss both the opportunities and ethical challenges of genetic testing with patients. As recent studies have suggested that primary care physicians may have deficiencies in this area, medical schools, residency programs, and continuing education programs may need to develop curricula to boost physician knowledge of genetic testing and precision medicine.

"As it relates specifically to genetic testing, incorporating precision medicine in the medical education curricula will need to be enhanced as genetic medicine becomes more streamlined into clinical care," Mire added. "Practicing physicians beyond training would benefit from clinical and point-of-care tools and resources to assist in the genetic counseling of patients. In addition, a more coordinated and team-based collaboration with geneticists and genetic counselors will be warranted in many cases."

Genetic testing also raises privacy concerns about patients' genetic information, which physicians should safeguard, according to the ACP. To this end, it added that while physicians should counsel patients to share results with family members who may also be affected, they should not disclose genetic information to relatives unless asked to do so by the patient, since these conditions rarely pose an imminent threat.

The position paper also discouraged the use of direct-to-consumer genetic testing services, saying that genetic testing should be sought within the patient-physician relationship.