Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders

There is a critical gap in knowledge regarding the attitudes, beliefs, and expectations of parents around clinical research trials involving genomic sequencing of children with sickle cell disease (SCD). SCD primarily affects children of African American (Black) race; institutionally we have found differences in enrollment on genomic sequencing trials (G4K (NCT02530658), PG4KDS) with patients identifying as black more likely to decline enrollment. Enrollment on SCCRIP (NCT02098863), a biobank study for children with SCD is high (92.3%), indicating that potential genomic research does not appear to concern many families with SCD. Given the rising prevalence of clinical research involving genomic sequencing in pediatric SCD, coupled with the increasing likelihood that sequencing will be required for enrollment on therapeutic drug or gene therapy trials, there is a clear need for research to better understand stakeholder concerns and expectations around genomic sequencing in this population.

Parents of children with SCD and adolescent patients will be approached to complete a short survey during a routine clinic visit, in the medicine room or in-patient. Survey questions will be administered at the time of the informed consent conversation. Those who agree will be given a paper survey or an ipad to complete survey items which focus on genetic/genomic knowledge, trust in health care provider, and literacy/numeracy ability in parents of children with SCD and adolescents with SCD. Participants also have the option to have questions read to them or they can take the survey on paper. Completion of the survey is expected to take < 30 minutes. Patient and parent can complete surveys simultaneously.

Of parents completing surveys, a subset will be approached for a private (in person or virtual) semi-structured interview. Participants willing to be interviewed will be interviewed at either the same study visit or at a future visit if this is more convenient for the participant. The interview guide (member of the study team) will ask questions designed to first assess parental perceptions about clinical research then begin to focus on parental attitudes, beliefs, and expectations around research involving clinical genomics. Interviews will be conducted on-site at St. Jude Children's Research Hospital in a private, quiet area. The interview should last 30-60 minutes and will be audio recorded. Some survey or interview study visits may occur remotely.

Investigators will re-approach 5-15 parents and 5-15 patients (both adolescent and young adult) to review educational materials developed about sickle cell disease treatment options. Additionally, investigators will approach parents of children with SCD as well as young adult patients for pilot testing of the web-based educational tool.