RESUMEN
Genomic researchers face an ethical dilemma regarding feedback of individual results generated from genomic studies. In the African setting, genomic research is still not widely implemented and, coupled with this, the limited African-specific guidelines on how to feedback on individual research findings. A qualitative study was performed to assess participants' expectations and preferences regarding the feedback of secondary findings from genomic research. Participants were parents of children with a developmental disorder, enrolled in the Deciphering Developmental Disorders in Africa (DDD-Africa) research project, and were purposefully selected. Three deliberative focus group discussions were conducted with 14 participants. Each deliberative focus group consisted of two separate audio-recorded interviews and presented different case scenarios for different types of secondary findings that could be theoretically detected during genomic research. We aimed to explore participants' preferences for the extent, nature, timing, and methods for receiving individual study results, specifically pertaining to secondary findings. Thematic content analysis was done, with a deductive approach to coding. Four themes emerged which included participants' perception of readiness to receive secondary findings, queries raised around who has access to research findings and feedback of findings consent, responsibilities of the researcher, and reasons for not wanting/wanting secondary findings. Overall, participants expressed that they want to receive feedback on secondary findings irrespective of disease severity and treatment availability. Lifestyle changes, early prevention or treatment, impact on future generations, and preparedness were strong motivations for wanting feedback on results. Participants felt that when the research involved minors, it was the parents' right to receive results on behalf of their children. This study provides new insights into participants' preferences around feedback on genomic research results and could serve as an important basis for creating guidelines and recommendations for feedback on genomic results in the African context.
RESUMEN
Genetic counseling has been shown to increase patient empowerment leading to positive outcomes. However, in the Johannesburg state healthcare system, the genetic counseling service is underutilized. Individuals with genetic disorders present with a variety of symptoms and are frequently referred to allied healthcare professionals for management; therefore, these professionals are in a unique position to identify appropriate patients and refer them for genetic counseling. This study aimed to determine whether allied health professionals, including physiotherapists, occupational therapists, and speech and language therapists, were aware of genetic counseling services in Johannesburg, South Africa, and whether they had previously referred patients to these services. The study also aimed to identify barriers and facilitators to referral. An adapted paper-copy questionnaire was administered to allied health professionals working at one of three state hospitals in Johannesburg. A total of 57 participants were included in this study. Results indicated that 29/57 (50.9%) of allied health professionals knew that genetic counseling services were available but only 15/29 (51.7%) of those who knew of the service had referred patients to these services in the last year. Barriers to referral included misconceptions about the role of genetic counselors, insufficient knowledge of which patients would benefit from genetic counseling, and being unable to obtain appropriate information from the Genetics Clinic for patient referral. However, allied health professionals recognized the benefit of genetic counseling and 53/57 (93%) wanted to increase their genetics knowledge. Therefore, genetics education of allied health professionals, and improved information regarding the referral procedure for genetic counseling, may improve the number of patients referred.