Clinical genetic services are increasingly providing a more nuanced understanding of genetic disease diagnostics and future risk for patients. Effectively conveying genetic information is essential for patients to make informed decisions. This is especially important for survivors of heritable cancers such as retinoblastoma (childhood eye cancer), where survivors who carry a germline mutation in the RB1 gene are at increased risk of second cancers in adulthood, and of passing on the disease risk to future offspring. We conducted focus groups with adult survivors of retinoblastoma and parents of children with retinoblastoma, to uncover their knowledge of, experiences with and attitudes about retinoblastoma genetics and related impacts of the cancer. Results revealed that participants understood that retinoblastoma was a genetic disease, but often misunderstood the implications of genetics on cancer phenotype and risk. Experiences with genetic testing and counseling were generally positive, however, participants reported challenges in accessing genetic information and psychosocial support. Participants suggested more educational resources, peer-to-peer counseling, and psychosocial support would enhance uptake of important genetic information. The results of the study will inform patient-oriented approaches to deliver comprehensive genetic healthcare.

Genetic testing and counseling have become integral to the timely control of heritable cancers, like the childhood eye cancer retinoblastoma. This study aimed to determine attitudes, knowledge and experiences related to retinoblastoma genetics, among survivors and parents of children with retinoblastoma in Kenya. This qualitative study used focus groups as the primary data collection method, coupled with a brief demographic questionnaire. Study settings were Kenyatta National Hospital and Presbyterian Church of East Africa Kikuyu Hospital. Thematic analysis was used to identify key themes. Thirty-one individuals participated in five focus groups. Two main concepts emerged: (1) the origins of retinoblastoma are unclear, and (2) retinoblastoma is associated with significant challenges. The lack of clarity surrounding the origins of retinoblastoma was linked to limited knowledge of retinoblastoma genetics, and limited genetic counseling delivery and uptake. The challenges associated with retinoblastoma were discussed in terms of the impact of the diagnosis on individuals and families, and unmet healthcare needs related to the diagnosis. Next steps will incorporate these findings to develop evidence-informed and accessible cancer genetic services in Kenya.

IntroductionBreast cancer ranks among the most common adult cancers in Kenya. Individuals with a family history of the disease are at increased risk. Mutations most commonly associated with breast cancer affect BRCA1 and BRCA2; mutations in several other genes may also confer breast cancer risk. Genetic testing and counseling can help patients understand their risk and assist clinicians in choosing therapies. We aimed to uncover what patients know, experience, and think with regard to breast cancer genetics in Kenya.MethodsParticipants included breast cancer survivors age > 18 years. Participants completed a demographic questionnaire before participating in focus group discussions to uncover knowledge of, experiences with, and attitudes toward the genetics of breast cancer. Data were analyzed by inductive thematic analysis.ResultsFour focus groups were conducted. Participants had rudimentary knowledge about genetics and cancer development, and although they understood breast cancer could be familial, many suspected environmental factors causing spontaneous disease. They reported limited experience with counseling about genetic risk, perceiving that their physicians were too busy to provide comprehensive information. Many indicated they promoted cancer screening among family to promote early diagnosis. Participants expressed a need for more comprehensive counseling and access to genetic testing, recognizing the added clarity it would bring to their families’ risk of cancer.ConclusionImproved communication from health care teams could clarify the risk of cancer for affected families. The introduction of affordable genetic testing and counseling for breast cancer in Kenya is welcomed by survivors.