Barriers to Ethical Informed Consent with Hereditary Cancer Genetic Testing

By Stacey Kusterbeck

Demand for hereditary cancer genetic testing is increasing rapidly as the result of advancements in technology and growing awareness of the utility of testing in cancer prevention and treatment. “This has led to a need to scale up, and often reduce time allotted for, the delivery of genetic cancer risk assessment, which includes the facilitation of informed consent,” reports Alexandra Capasso, MS, CGC, a genetic counselor at City of Hope in Los Angeles.

Clinicians have an ethical responsibility to ensure patients can make a fully informed decision about undergoing genetic testing. “Also, equity is important. All patients deserve to understand the implications of germline genetic testing before pursuing it,” says Capasso.

Capasso and colleagues wanted to know more about how community clinicians and genetic counselors, respectively, obtain informed consent. The researchers analyzed how adequately the recommended elements of informed consent were covered during pre-test counseling by 307 community clinicians and 129 cancer genetic counselors.¹

Most clinicians did not address all 10 elements of informed consent outlined in the National Society of Genetic Counselors practice resource, which was published in 2012. However, these discrepancies might reflect an acceptable evolution in the process of informed consent, given significant advancements in the field. “It may be that we need to revisit the definition of informed consent and how it applies to patients now. Tailoring the informed consent process to the needs of our patients may look different than it did over a decade ago,” says Capasso. Some key findings:

• Community clinicians reported lack of education, lack of experience, and lack of resources as barriers.

• Cancer genetic counselors more often reviewed the purpose of the test, who to test, general information about the genes being tested for, and economic considerations than community clinicians.

• For both groups, the least adequately addressed element was psychosocial aspects (for example, assessing the patient’s readiness for genetic testing or their support system). “This, notably, is an element of informed consent that would be difficult to address outside of an appointment through supplementary educational tools,” acknowledges Capasso.

• Time constraints were the primary barrier reported by both groups. Clinicians focused on what they viewed as the most important elements of informed consent. “Although this is a reasonable approach, we must ensure that patients have enough information prior to testing to make an informed decision,” cautions Capasso.

In light of the findings, the authors conclude that it may be beneficial for clinicians to find alternate ways (such as videos) to fully educate patients. As for clinicians’ lack of awareness of the elements of informed consent or lack of experience with the informed consent process, those barriers can be addressed by developing and disseminating educational tools for clinicians, recommends Capasso. “Ideally, educational materials would be developed by experts in the field and disseminated as practice guidelines, policy statements, or continuing education opportunities,” says Capasso.

There also is a role for ethicists in the hospital setting. “Genetic testing can come with complex ethical scenarios, one of the most frequent being testing minors for adult-onset conditions,” notes Capasso. Institutional factors probably are the most difficult barrier to address, says Capasso — such as limited staffing and financial resources.

Regardless of what barriers exist, providers are ethically obligated to assist the patient in identifying potential harms that could result from testing. “If patients do not receive adequate informed consent, there could be unforeseen consequences, such as anxiety, when receiving an unexpected result,” advises Capasso.

Ideally, specialized genetic counselors are the ones who obtain informed consent, says Charis Eng, MD, PhD, FACP, chair of the Genomic Medicine Institute and director of Genomic Research Strategies at Cleveland Clinic. These professionals have been trained to ensure ethical practices before, during, and after genetic testing.

When clinicians outside of the genetic counseling field obtain informed consent, the focus typically is on explaining the implications of a positive genetic testing result. “It is vital for clinicians to clearly discuss with patients the possible outcomes and limitations of genetic testing,” underscores Eng.

For example, some tests may be limited to a predefined set of genes associated with cancer risk. If a patient tests negative for all genes in a particular panel, it does not automatically imply that the genetic cancer risk is zero. It may be that the gene associated with the patient’s hereditary cancer may not have been covered by the gene panel, Eng explains.

Patients may be misled by gene panels that cover some types of genetic alterations, but not others. “This is challenging. Patients might think that they have a negative genetic test, when it could be that the type of gene alteration was not covered by the test,” says Lamis Yehia, PhD, PTEN program manager and scientific liaison at the Genomic Medicine Institute at Cleveland Clinic.

Another ethical concern: Actionable findings that have implications not just for the person tested, but their entire family. “While informed consent protects the confidentiality of genetic information, experienced genetic counselors should be involved to educate and guide patients regarding such implications pre- and post-testing,” says Yehia.

REFERENCE

1. Capasso A, Nehoray B, Gorman N, et al. Genetic counselors’ and community clinicians’ implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk. J Genet Couns 2024; Mar 13. doi: 10.1002/jgc4.1887. [Online ahead of print].