Experts examine ethical issues in pediatric rheumatology research

Ethical issues surrounding genomic research and biobanking in pediatric rheumatology are highly complex, especially when balancing the desires and interests of the family and child with the need for discovery.

During the session Ethics of Biobanking & Genetic Research in Pediatric Rheumatology, two experts addressed the rules and challenges surrounding genetic testing in pediatric patients. The session, which was originally presented Sunday, Nov. 7, can be viewed by registered meeting participants until March 11, 2022.

Sampath Prahalad, MD, MSc, the Marcus Professor and Chief of Pediatric Rheumatology at Emory University School of Medicine and Children’s Healthcare of Atlanta, discussed why genetic research is done, how it is done, and some of the challenges associated with it.

The premise for conducting genetic research is that a variation in the phenotype of interest is determined, at least in part, by heritable differences in the genome, he explained. This is relevant because defining the gene or genes responsible for the phenotype may identify pathways for intervention.

Linkage and association studies are used to dissect the genetic basis of disease. Linkage studies look at a phenotype and a marker allele to show correlated transmission within a pedigree. Association studies are designed to determine if an allele occurs at a different frequency among cases compared to matched controls.

“There have been substantial advances in the dissection of genetic disease over the last several decades,” Dr. Prahalad said. “The genetic discoveries have been paralleled by advances in functional genomics technologies.”

Despite these advances, ethical questions remain, Dr. Prahalad said. One example is whether genetic results should be reported to families. For clinical testing this is clear, but the guidance is less clear for research testing.

Lainie Ross, MD, PhD, the Carolyn and Matthew Bucksbaum Professor of Clinical Ethics and Associate Director of MacLean Center for Clinical Medical Ethics at the University of Chicago, said decisions have to be made about what is and what is not reported back to participants based on what’s stated in the consent form. If participants insist on results from genetic testing, they should not consent to research that states they will not be provided, and vice versa, she said.

One caveat: the Health Insurance Portability and Accountability Act (HIPAA) mandates that if genetic sequencing is conducted, raw data must be provided to participants upon request.

Dr. Ross also discussed regulatory and ethical issues of biobanks, which are repositories of tissue or blood samples and associated information stored for one or more research purposes. Biobanks seek to move beyond the one study/one informed consent model to a model where broad or blanket consent is obtained for participation in multiple research activities, including future research activities not yet specified.

“Biobanks exemplify the changing paradigm of genetic research,” Dr. Ross said.

However, biobanks raise many ethical issues regarding privacy, data ownership and stewardship, and the return of results. One relevant question is whether there should be limits to what type of research can be done when a patient gives consent to participate in genetic research.

Dynamic consent is when participants agree to new studies not conceived at the time of the original consent. Tiered consent is when the participant states upfront how their samples can be used. In most situations, broad consent is sought, but Dr. Ross said consent forms should be designed to empower the participant or parent to have a say in the type of research conducted with their genetic materials.

Another ethical question is what happens when a child turns 18.

“Pediatric biobanks need to develop a policy for how data and samples will be handled once a pediatric participant reaches the age of majority, and they should explain this policy in the consent document,” Dr. Ross said.