Genetic testing ‘should be clinically indicated’

02 August 2022

2 minutes reading


disclosures: Lehmann reports to be employed by Google and a member of the ACP Committee on Ethics, Professionalism and Human Rights. See the position paper for the relevant financial statements of all other authors.


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

“Rapid advances in genetic testing and precision medicine have increased the ability and potential to improve healthcare for our patients,” Ryan D. Mire, MD, FACP, the ACP president said in a press release. “But as we know, technology and genomic advancements bring additional responsibilities, ethical challenges and possible unintended consequences for our patients, their families and their physicians.”



Genetic Medicines
“As we know, technology and genomic advancements pose additional responsibilities, ethical challenges and potential unintended consequences for our patients, their families and their physicians,” said Ryan D. Mire, MD, FACP, president of the ACP. 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 encompasses a variety of applications for genetic information, such as 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 guidance.” Lisa Soleymanic 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 of the ACP Committee on Ethics, Professionalism, and Human Rights in the paper.

According to Lehmann and colleagues, the document serves to give more specificity to the guidelines of the ACP Ethics Manual. The first guidelines noted that precision medicine poses a number of problems, such as costs, discovery of unwanted information, counseling needs, potential discrimination and the necessary training for doctors and patients.

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

According to Lehmann and colleagues, there are other major concerns to consider, such as 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 may be disclosed to law enforcement in certain circumstances, and that direct-to-consumer genetic testing companies may not be covered by Health Insurance. Portability and Liability Act.

To use genetic testing ethically, it must be “clinically indicated,” and health care professionals must consider whether the test results will influence clinical decisions, ACP said. The benefits of genetic testing are greatest when used to answer a useful clinical question, Lehmann and colleagues wrote.

The position paper outlined the ACP’s position on several other important aspects of genetic testing:

As with all medical testing, genetics must be guided by ethical standards, scientific evidence and the best interests of the patient. Physicians must consider the benefits and risks of a test in order to provide quality care.

Physicians can and should work with patients to help them understand all the benefits, risks and uncertainties. They should also discuss the ethical challenges of precision medicine and genetic testing, and “appreciate the nuanced differences between highly predictive genetic variants that indicate the presence of hereditary disorders and tests that provide probabilistic information,” Lehmann and colleagues wrote.

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

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