Genetic testing ‘must be clinically indicated’

August 02, 2022

2 min read

Source / Disclosures

Disclosures: Lehmann reports being employed by Google and being a part of the ACP Ethics, Professionalism and Human Rights Committee. Please see the position paper for all other authors’ relevant financial disclosures.


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Physicians must carefully consider the risks and benefits of genetic testing and discuss the ethical challenges of the practice with their patients, according to a position paper from the ACP.

“The rapid advances in genetic testing and precision medicine have raised the ability and potential to improve health care for our patients,” Ryan D. Mire, MD, FACP, the president of ACP, said in a press release. “But as we know, technology and genomic advances come with additional responsibilities, ethical challenges and potential unintended consequences for our patients, their families and their physicians.”

Genetic Drugs
“As we know, technology and genomic advances come with additional responsibilities, ethical challenges and potential unintended consequences for our patients, their families and their physicians,” Ryan D. Mire, MD, FACP, president of the ACP, said. Source: Adobe Stock.

Genetic testing is just one aspect of precision medicine, which ACP defines as “individualized care based on knowledge of a person’s genetics, lifestyle and environment.” It includes a variety of uses for genetic information, like diagnostic testing, risk assessment, predictive risk testing and population screening.

It also includes direct-to-consumer genetic testing, although ACP discourages the method “and advises that testing should be done in the context of a patient-physician relationship, with appropriate counseling,” Lisa Soleymani Lehmann, MD, PhD, MSc, director of the Center for Bioethics at Brigham and Women’s Hospital and associate professor of medicine and medical ethics at Harvard Medical School, and colleagues in the ACP Ethics, Professionalism and Human Rights Committee wrote in the paper.

The paper serves to provide more specificity to the ACP Ethics Manual’s guidance, according to Lehmann and colleagues. The initial guidance noted that precision medicine presents a number of issues like costs, discovery of unwanted information, counseling needs, possible discrimination and the necessary education for physicians and patients.

Now, ACP has focused on the use of genetics and precision medicine in general practice, noting in the paper that genetic information may guide treatment decisions for patients who may be at risk for conditions that can be inherited, those who may need a drug associated with a known pharmacogenomic variant, and more.

There are other major concerns to consider, according to Lehmann and colleagues, like privacy issues and the protection of patient information. For example, the authors noted that patients may not be aware that data from direct-to-consumer genetic testing can be disclosed to law enforcement in certain circumstances, and direct-to-consumer genetic testing companies may not be covered by the Health Insurance Portability and Accountability Act.

To ethically use genetic testing, it “must be clinically indicated,” and health care professionals must consider if the test results will impact clinical decisions, according to ACP. The benefits of genetic testing are most significant when used to answer an actionable clinical question, Lehmann and colleagues wrote.

The position paper outlined ACP’s stance on several other key aspects of genetic testing:

Like all medical testing, genetics must be led by ethical standards, scientific evidence and the best interest of the patient. Physicians must consider the benefits and risks of any test in order to practice high-value care.

Physicians can and should engage with patients to help them understand all the benefits, risks and uncertainty. They should also discuss the ethical challenges of precision medicine and genetic testing, and “appreciate the nuanced distinctions between highly predictive genetic variants that indicate the presence of inherited conditions and tests that offer probabilistic information,” Lehmann and colleagues wrote.

Those with access to patient data must protect the privacy, security and confidentiality of patients’ genomic information.

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