While precision medicine offers many potential advancements in patient care, this revolutionary field raises a number of issues that must be addressed. In her talk “Emerging Ethical, Legal, and Social Implications of Precision Medicine,” now available for CME credit through AudioDigest, Valerie Koch, JD, provides an overview of key trends in precision medicine.
Sharing her perspective as the director of law and ethics at the MacLean Center for Clinical Medical Ethics at the University of Chicago, Koch highlights precision medicine trends surrounding informed consent, direct-to-consumer genetic testing, health disparities, data sharing and oversight.
As Koch points out, precision medicine brings complexities to the informed consent process. Issues include the future use of data, disclosure of results, the discovery of new information and considerations regarding genetic information.
As precision medicine research relies on large quantities of data, it may not be possible to anticipate all future uses of data and information, and Koch asks whether it’s necessary for researchers to go back to participants whenever their data or specimens are used. She also discusses issues relating to disclosing research results to patients. For example, how should researchers address incidental findings, which may become more frequent as technology progresses?
Highlighting the rapid discovery of new information in precision medicine, Koch asks: “As we discover new mutations and generate new knowledge, what do we do with these discoveries, and how do we do it?”
Finally, informed consent as it relates to genetic information requires careful consideration. This information carries implications for patients and their families, as well as their community. For example, a BRCA mutation “resonates throughout generations,” in Koch’s words. She suggests that more physician education might improve communication and notes that regulations governing research on human subjects may not adequately address these issues.
Direct-to-Consumer Genetic Testing
Direct-to-consumer genetic testing, a product of precision medicine, also raises important concerns, conferring both risks and benefits. The potential for patient empowerment must be weighed against risks such as spotty oversight of at-home tests, the importance of clinically advised care, false positive and negative results and incorrectly reported data.
Koch highlights the danger that advances in science and technology may solidify and worsen health disparities. Factors contributing to health disparities in precision medicine include cost, access and underrepresentation in research. Some new services cannot be reimbursed by many payors, limiting the provision of care to those who can afford it.
Additionally, a lack of diversity in research contributes to health disparities in precision medicine, stemming in part from a “long history of discriminatory and coercive research conduct.” It’s therefore essential to cultivate trust by addressing the needs of particular groups, promoting more equitable patient selection and ensuring the accessibility of downstream tests and treatments to the broader population.
As Koch discusses, data sharing has important implications for individual and group privacy and confidentiality. For example, in the context of inherited cancers, Koch questions whether there is a duty to warn family members who may develop a genetic disease. She explains that the law does not provide a clear answer, with courts coming to inconsistent conclusions regarding a physician’s responsibility to transparency.
Additionally, data sharing is necessary to advance research and develop new tests and therapies. Despite its importance, Koch cites a range of barriers, from protecting patient data and other legal risks to technical difficulties and institutions’ reluctance to collaborate.
The regulation and oversight of precision medicine affect how issues related to data sharing are addressed in practice. Koch describes precision medicine’s regulatory environment as a “morass.” Federal and state bodies regulate isolated aspects of precision medicine without harmonizing.
Precision medicine has a range of oversight mechanisms, including rules around human subjects research, privacy, antidiscrimination, informed consent and trade, among others. Some mechanisms can vary widely from state to state and how they are established (by statute or court order or court rules). Koch points out that laws must keep pace with the continually evolving realms of science and technology.
As precision medicine advances and becomes further incorporated into clinical practice, it’s essential to consider these important ethical, social and legal issues as precision medicine continues to evolve.