Ethical Approaches to Informed Consent for Genetic Testing
Various areas of medicine are adopting genetic testing. “But there are no clear guidelines regarding what pretest informed consent concepts are critical to include,” says Miranda Hallquist, LGC, a senior genetic counselor at Pennsylvania-based Geisinger and director of Geisinger’s Genetic Counseling Assistant program.
Hallquist and colleagues set out to establish an ethical framework to facilitate informed consent for genetic testing. The researchers used an expert consensus process to identify core concepts essential for informed consent for genetic testing.1
First, the group conducted a literature review, during which they identified 77 concepts included in consent for genetic testing.
Then, the 25 experts ranked the importance of the concepts to the informed consent process. The experts ranked these concepts as highest in importance:
• Genetic testing needs to be voluntary;
• The patient must understand why the test is recommended and what clinicians are testing for;
• What results are going to be returned, and to whom;
• Whether there are other types of potential results that might be returned later;
• Whether the results of the genetic tests will affect prognosis and management;
• How the family might be affected;
• The test’s limitations;
• The potential for genetic discrimination.
Hallquist suggests clinicians can use this list as a starting point for conversations. Clinicians can then cover additional information as needed based on the clinical scenario, patient’s interests, and questions. This streamlined approach may shorten time spent by genetics providers on informed consent. “They can dedicate time to helping patients navigate positive or uncertain results or difficult psychosocial situations, where their expertise may be most valuable,” Hallquist says.
The study’s findings suggest genetics clinicians seem inclined to provide detailed information on basic genetics, explaining the concepts of genes, chromosomes, and inheritance patterns. “This may be more information than many patients need during the informed consent process,” Hallquist observes.
Researchers struggle with whether to return results of genetic testing to participants. “The prevailing wisdom these days is that results should be returned to participants when they are actionable and/or there is proof of validity, significance, and benefit,” says Jennifer James, PhD, MSW, MSSP, an assistant professor at the Institute for Health & Aging at the University of California, San Francisco.
These criteria can evolve over time as new evidence emerges. For example, a researcher could reasonably decide not to return variants of unknown significance. It is possible someone later determines those results to be significant after all. If that occurs after the study ends, are researchers ethically obligated to disclose the results to the participant?
“On the one hand, to take information and produce knowledge without returning it to participants and communities is unjust,” James says.
For researchers, it can feel morally problematic to withhold information that could help a study participant in some way or could help with health decision-making. “Genomic labs continually review data and reclassify based on the latest science,” James notes. “Variances are reclassified regularly.”
For example, a variant of unknown significance in a breast cancer gene may be reclassified as likely pathogenic and thus actionable for additional screening. On the other hand, genetic and genomic testing can involve sequencing vast amounts of information. “Is it responsible to return raw data to someone with no other context, insight, or information?” James asks.
Long-standing concerns about how returning positive genetic test results to people would cause emotional distress were largely unfounded.2 “One could argue that we don’t give participants enough credit to figure out how to make meaning of unexpected findings or information,” James says.
James asserts informed consent for genetic testing in the research context is insufficient. Participants should understand what the test is for, why, what could be found, what type of information will be returned to them (and how), what resources will be available for any needed follow-up care, what will happen to their data, the point of the research, and potential for data to be used in future research.
Regarding returning results, researchers can ask participants: Would you want to learn this information? Are you comfortable not learning certain types of information? Do you know where to direct your questions?
“These decisions should be driven by community. It cannot be researchers alone deciding who would want what type of information,” James says.
Community engagement allows researchers to work through some of these questions during the study design process. “I don’t think there is a blanket, universal answer,” James offers.
The answers might be different for individuals with cancer, heart disease, or Alzheimer’s disease; or for children, young adults, or seniors; or for people with a family history of disease; people with children; or people with health insurance vs. those without. “We need to think through the implications of people who may or may not have a motivation — or power — to take an action, if there’s an action to take, with the information,” James says.
For researchers, the first step is to talk to communities about the research conducted. Next, researchers can talk to people who want to participate in the research, and also people who have a stake in the issue under investigation. Researchers can discuss priorities for future studies, opinions on how to return different types of findings, and ways to communicate with participants. “Ideally, we design the research in such a way that we can make changes along the way based on those conversations,” James says.
1. Hallquist MLG, Borensztein MJ, Coughlin CR 2nd, et al. Defining critical educational components of informed consent for genetic testing: Views of US-based genetic counselors and medical geneticists. Eur J Hum Genet 2023; Jun 12. doi: 10.1038/s41431-023-01401-0. [Online ahead of print].
2. Frieser MJ, Wilson S, Vrieze S. Behavioral impact of return of genetic test results for complex disease: Systematic review and meta-analysis. Health Psychol 2018;37:1134-1144.
Participants should understand what the test is for, why, what could be found, what type of information will be returned to them (and how), what resources will be available for any needed follow-up care, what will happen to their data, the point of the research, and potential for data to be used in future research.
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