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The Ethical Responsibilities of Precision Medicine According to ACP

The American College of Physicians (ACP) aimed to inform on the ethical decision making regarding the integration of precision medicine and genetic testing into clinical care.

Investigators from the American College of Physicians (ACP) aimed to inform on the ethical decision making regarding the integration of precision medicine and genetic testing into clinical care.

Precision medicine is defined as individualized care based on knowledge of a person's genetics, lifestyle, and environment, according to new research. There is a wide spectrum of uses for genetic information, including predictive risk testing, risk assessment, diagnostic testing, pharmacogenomics, molecular profiling of tumors, population screening, and direct-to-consumer genetic testing.

Inexpensive tests for specific genetic variants, polygenetic risk scores, multicancer early detection, and whole-genome sequencing are the result of vast advances in genome sequencing technology. As with many advances in technology, this approach comes with ethical questions about whether or not to use these tests or technology in clinical care. And if it is implemented, what are the limitations?

The Position Paper

Lisa Soleymani Lehmann, MD, PhD, led investigators in constructing a document on behalf of the ACP Ethics, Professionalism and Human Rights Committee (EPHRC).

The team conducted an environmental assessment to determine the scope of issues and literature reviews before evaluating and discussing several drafts and having them reviewed by the ACP Board of Governors, Board of Regents, Council of Early Career Physicans, Council of Resident/Fellow Members, Council of Student Members and other experts.

The paper consists of an executive summary of 4 positions on the subject that's been revised to incorporate feedback from any and all included groups. It was approved by the ACP Board of Regents on February 15, 2022.

Position 1: Patient Interests, Evidence & Ethical Standards

The first position: Genetic testing, like any testing, should be guided by the best interests of the patient, scientific evidence, and ethical standards. The physician's ethical responsibility to practice high-value care requires consideration of the benefits and harms of any test based on the scientific evidence.

If and how physicians should suggest the practice of precision medicine for their patients, specifically primary care physicians who perform comprehensive risk asessments for the patients they see.

"The benefits of genetic testing as part of precision medicine are greatest when it is used to answer and actionable clinical questions and the genomic findings can translated into treatment recommendations," investigators stated.

Position 2: Discussions About Opportunities & Challenges

The second position: Physicians should prepare to engage with patients in discussions about the opportunities and ethical chal- lenges of genetic testing and precision medicine.

Currently, genetic testing has mostly included a small number of medical genticists and counselors who are vital to patient care. Their role in guiding patients through difficult decisions surrounding genetic testing, and subsequently, their results, are crucial in educating individuals through their journey with precision medicine. As the field expands, clinicians will need to undergo substantial training to provide the same care.

"Educating health care teams and creating an infrastructure for clinicians to easily access genetic counselors will be critical to the responsible integration of genomics into clinical care," investigators wrote. "For example, primary care physicians will benefit from training to identify inherited cardiac conditions, including arrhythmias, cardiomyopathy, and familial hypercholesterolemia."

Position 3: Physician Assitance with Direct-to-Consumer Genetic Testing

The third position: Patients will need assistance from their physicians to understand the risks, benefits, and uncertainty of direct-to-consumer (DTC) genetic medical testing.

Access to obtain information about one's health should be supported by an informed understanding of the risks, limitations, uncertainty, benefits, and alternatives. Direct-to-consumer medical testing should be followed by counseling on the implications of the results for the patient as well as their biological relatives, as well as the potential impact they can have on life, long-term care, and disability insurance.

"The U.S. Food and Drug Administration has expressed concerns about consumer understanding of tests, incorrect results, and their erroneous interpretation. There is little regulation of DTC services. Physicians can help patients clarify their motivations for pursuing testing, assess the quality of services provided, help patients under- stand what will happen to their data, and integrate the results into their diagnostic assessments," they wrote.

Position 4: Safeguarding the Privacy of Patient Information

The fourth position: Physicians, health care systems, and others with access to patient data should safeguard the privacy, confidential- ity, and security of patient information, including genomic information.

With the advances in, and access to, precision medicine comes new challenges around the privacy and use of patient information. Investigators wrote that patients must be informed on the genetic privacy risks that could affect them and their family memebers.

"Patients should be informed that data protection has limits and the ability to protect privacy and confidentiality is not absolute, and that privacy and confidentiality may be breached to prevent serious harm to others. Health care systems will need to consider new information technology strategies to ensure the security of patients' genetic and clinical information," investigators stated.

Benefits and Risks of Precision Medicine

With the practice of precision medicine and genetic testing, it's possible to improve overall understanding of diseases, diagnose illnesses earlier, and customize therapies specifically for each patient which can all lead to improved health outcomes. However, investigators emphasized that this technology and the responsibility that comes with it needs to be taken seriously.

"Ethically implementing precision medicine requires careful attention to appropriate testing, creating systems to assist with data interpretation, and protecting data privacy and security," they concluded. "Physicians will need to improve their own genetic literacy through an ongoing, lifelong learning approach so that they can engage patients in informed conversations about the appropriateness, risks, and benefits of precision medicine and genetic testing."

The position paper, "Ethical Considerations in Precision Medicine and Genetic Testing in Internal Medicine Practice: A Position Paper From the American College of Physicians" was published in Annals of Internal Medicine.