Publications

Non-communicable disease (NCD) care in Sub-Saharan Africa is challenging due to barriers including poverty and insufficient health system resources. Local culture and context can impact the success of interventions and should be integrated early in intervention design. Human-centered design (HCD) is a methodology that can be used to engage stakeholders in intervention design and evaluation to tailor-make interventions to meet their specific needs.

Spirituality and religion are at the core of Kenyan life. Pastoral leaders play a key role in shaping the individual and community’s response to living with chronic and life-threatening illnesses. Involvement of religious leaders would therefore be critical in advocacy and education efforts in palliative care (PC) to address the needs of this population. The goal of this study was to evaluate the knowledge and perceptions of religious leaders in Western Kenya regarding PC. This was a mixed-methods study with 86 religious leaders utilizing a 25-question survey followed by 5-person focus group discussions. Eighty-one percent of participants agreed that pastors should encourage members with life-threatening illnesses to talk about death and dying. However, almost a third of participants (29%) also agreed with the statement that full use of PC can hasten death. The pastors underscored challenges in end-of-life spiritual preparation as well as the importance of traditional beliefs in shaping cultural norms. Pastors supported the need for community-based PC education and additional training in PC for religious leaders. The results of this study confirm the dominant role of religion and spirituality in PC in Kenya. This dominant role in shaping PC is tied closely to Kenyan attitudes and norms surrounding death and dying.

Background Genetic studies of biomedical phenotypes in underrepresented populations identify disproportionate numbers of novel associations. However, current genomics infrastructure–including most genotyping arrays and sequenced reference panels–best serves populations of European descent. A critical step for facilitating genetic studies in underrepresented populations is to ensure that genetic technologies accurately capture variation in all populations. Here, we quantify the accuracy of low-coverage sequencing in diverse African populations.Results We sequenced the whole genomes of 91 individuals to high-coverage (>=20X) from the Neuropsychiatric Genetics of African Population-Psychosis (NeuroGAP-Psychosis) study, in which participants were recruited from Ethiopia, Kenya, South Africa, and Uganda. We empirically tested two data generation strategies, GWAS arrays versus low-coverage sequencing, by calculating the concordance of imputed variants from these technologies with those from deep whole genome sequencing data. We show that low-coverage sequencing at a depth of >=4X captures variants of all frequencies more accurately than all commonly used GWAS arrays investigated and at a comparable cost. Lower depths of sequencing (0.5-1X) performed comparable to commonly used low-density GWAS arrays. Low-coverage sequencing is also sensitive to novel variation, with 4X sequencing detecting 45% of singletons and 95% of common variants identified in high-coverage African whole genomes.Conclusion These results indicate that low-coverage sequencing approaches surmount the problems induced by the ascertainment of common genotyping arrays, including those that capture variation most common in Europeans and Africans. Low-coverage sequencing effectively identifies novel variation (particularly in underrepresented populations), and presents opportunities to enhance variant discovery at a similar cost to traditional approaches.Competing Interest StatementA.R.M. serves as a consultant for 23andMe and is a member of the Precise.ly Scientific Advisory Board. B.M.N. is a member of the Deep Genomics Scientific Advisory Board. He also serves as a consultant for the Camp4 Therapeutics Corporation, Takeda Pharmaceutical and Biogen. M.J.D. is a founder of Maze Therapeutics. J.K.P. is an employee of Gencove, Inc. The remaining authors declare no competing interests. D.J.S. has received research grants and/or consultancy honoraria from Lundbeck and Sun.