The 4 Positions of Precision Medicine
Position 1: Genetic testing, like any testing, should be guided by the best interests of the patient, scientific evi- dence, and ethical standards. The physician's ethical responsibility to practice high-value care requires consid- eration of the benefits and harms of any test based on the scientific evidence.
Position 2: Physicians should prepare to engage with patients in discussions about the opportunities and ethi- cal challenges of genetic testing and precision medicine.
Position 3: Patients will need assistance from their physicians to understand the risks, benefits, and uncer- tainty of direct-to-consumer genetic medical testing.
Position 4: Physicians, health care systems, and others with access to patient data should safeguard the privacy, confidentiality, and security of patient information, includ- ing genomic information.
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.
