Improving access to Genomic Medicine in Africa: Lessons Learnt from a Sub-Saharan African Cleft Cohort.
Abstract
Genomic medicine routinely uses an individual's genomic information as part of their clinical care, potentially improving the quality of care delivered through personalized interventions. However, there are concerns benefits will exclude minority populations in Africa. Barriers, including an unequipped provider workforce, poor communication between providers and patients, and the lack of diversity in reference populations, prevent widespread use of genomic information in the delivery of precision health and genomic medicine. Efforts to improve genetic literacy in patients, providers, and the public highlight the utility of genomic information, showing how its maximized benefit and minimized harm and stigmatization could improve the underrepresentation of minority populations in research, ensuring equitable access to genomic medicine and reducing health disparities among diverse groups.
Introduction
The Iowa Institute for Oral Health Research provides collegiate researchers with state-of-the-art facilities to conduct clinical and research studies on craniofacial anomalies. Abimbola Oladayo is the lead student researcher on projects addressing the ethics of genomics research in the African Population at the Butali Lab. Research at the Butali Lab focuses on the genetic roots of cleft lip and palate via genomics research on cleft cohorts from Africa.
Azeez Butali is a professor and Principal Investigator for the Ethical, Legal and Social Implications Research Program (ELSI). ELSI has 3 research sites led by professionals across bioethics, paediatrics, genetics, and oral health. Wasiu Adeyemo, a dentist and cleft-craniofacial specialist, is the Co-PI who led the Lagos site. Craniofacial geneticist Lord J.J. Gowans led the Ghana study site. Oluwakemi Odukoya, a Community Medicine consultant, led the community engagement activities in Lagos. Abimbola worked with the University of Iowa team to draft the research proposal and create the data collection questionnaire for the Lagos and Ghana teams to collect data.
Who should benefit?
Orofacial clefts (OFCs) are some of the most commonly occurring congenital anomalies in humans, with a global prevalence of 1 in 700 live births and 1 in 2000 in Africa. Over 4 million cases were reported in 2019, with most of the disease concentrated in low and middle-income countries (LMICs). In sub-Saharan Africa, a prevalence of 0.5 in 1000 was reported in Nigeria, while 6.3 in 1000 was reported in Ghana.
OFCs are of public health importance because of their impact on affected families. Caregivers face several challenges including feeding difficulties, stigmatization from bearing a child with a deformity, and psychological impact from guilt and financial burden - all of which can contribute to neglect and infanticide. While the management of OFCs requires multispecialty collaboration, employing genomic technologies offers a way to understand genetic causes and improve management strategies.
However, limited resources and genomic illiteracy in LMICs limit the incorporation of genomics into care. Caregivers rely on healthcare providers that lack the expertise to deliver sufficient information. Also, harm could occur if results are returned in a manner that denies patients opportunity to discuss future risks with an expert. Due to insufficient communication, patients remain unclear about the risks and benefits of genomic testing and what to do with results, and research participation for individuals of African ancestry and other minority populations is hindered by mistrust of medical research and healthcare infrastructure from a history of exploitation and ethical violations.
Increasing the representation of diverse populations in genomics research will require efforts to establish trusting and respectful long-term relationships between stakeholders and researchers. Parents of affected children and providers are crucial to understanding the critical knowledge gaps in accessing genomics medicine in this population, and investigating their perspectives could help providers’ decision-making regarding the clinical utility of genomic testing results. This could help patients comprehend the role of genomics in their health, improving attitudes to testing and leading to increased participation. This will bring us closer to achieving equity in the utilization of genomics in health care, in line with National Institute of Health diversity goals.
Engagement
The ELSI project at the Butali lab commenced in 2020 as an offshoot of the African Cleft Whole Genome Sequencing Project, an extensive study across 3 African countries to identify new biological pathways critical to clefting while providing insights into interventions and prevention. Several questions across 5 domains assessed providers’ needs, knowledge, and comfort level, including experiences with genetic testing, education, returning genetic results, and potential barriers encountered. Patient perspectives were examined via their willingness to receive genomic information and available resources to obtain this information.
As little has been done to understand how genome sequencing results' perceived benefits and harms differ for minority populations, the gap in scientific understanding may reinforce existing disparities in genomics research. Population-specific barriers such as sociocultural beliefs further preclude the widespread adoption of genomic medicine in limited-resource settings. Therefore, a comprehensive approach to increasing access to genomic services in this population would build trust and strengthen relationships between providers and patients, improving genomic literacy, community engagement, and partnership. Furthermore, enhancing genetic literacy in people affected by OFCs can improve participation and the chances of detecting important medical risks unrelated to the primary reason for testing.
Insights from evaluating patient perspectives prompted investigation of community attitudes to the risks and benefits of genomic medicine and their willingness to support patients. In African settings, genetics-related issues are treated with hushed tones, and the majority believe it is predestined and should not be tampered with. In a University of Lagos study, community entry occurred via visitations, introductory meetings, and presentations to recognize the roles of community gatekeepers, identify eligible participants, explain research purpose, and gain support to ensure smooth facilitation of the engagement process.
Research
Regarding genomic investigation of craniofacial anomalies in Africa, non-genetic professionals' unfamiliarity with genomic data makes them ill-prepared to return results of important medical risks, including those out of their specialty such as sickle cell and cancer. This is in addition to the absence of a qualified genetic counsellor to educate or support patients after testing. The naivety of patients and inability to find support after results further impairs their understanding of genomic information, genetic research participation, and benefits from advances.
To understand the needs of non-genetic providers in cleft care, the Iowa Institute evaluated the perspectives of 252 care providers via an online Qualtrics survey shared through professional communication boards. The online survey was cost-effective and allowed dissemination to a range of participants across practice locations. From December 1, 2020, to August 31, 2021, interviewer-administered questionnaires collected perspectives of 197 parents of children attending cleft clinics in Ghana and Nigeria regarding genomic findings and their ability to act on this information. Interviewers explained complex terms and concepts to the patients and ethical approval was obtained from the institutional review boards at the Lagos and Kumasi sites.
Results showed few providers were involved in the delivery of genome sequencing due to limited genomic literacy. However, they were willing to deliver services if provided with adequate training. Patients were willing to undertake genetic testing but had limited understanding of test results and lacked post-result support. This led to a collaboration with community health experts at the University of Lagos to investigate the role of community gatekeepers - such as religious and community leaders - in providing informal support after receiving test results. Gatekeeper engagement occurred via focus group discussions conducted in the suburbs of Lagos from October to December 2021. The team are currently developing methods to enlist gatekeepers to help improve patient decision-making on genetic testing by highlighting perceived benefits and evaluating best available treatment options.
Impact
This is the first ELSI study documenting the perspectives of parents with cleft children, community gatekeepers, and the knowledge and comfort level of cleft providers in Africa with reporting genomic information. To harness the health benefits of genomics medicine, efforts geared at building capacity for genomics medicine must be invested in. The Iowa team will partner with InSiGHt Health Consulting Ltd to deliver training. InSiGHt have executed several professional development programs and will implement genetic educational programs developed for care providers across teaching hospitals in Ghana and Nigeria. Following the development of easy-to-understand patient education materials, the team will educate patients in clinics.
