A framework for tiered informed consent for health genomic research in Africa

Abstract

frican human genome research is advancing rapidly, owing to falling sequencing costs and international interest in African genomic data: the diversity of African genomes can provide novel insights into biological and etiological mechanisms, thereby promoting diagnostic, prognostic and therapeutic advances for populations in Africa and the rest of the world 1,2. Conducting genomic research in Africa can be logistically challenging 3,4 , but equally challenging is recruiting African participants-many of whom have knowledge-and/or poverty-related vulnerabilities 5,6-while ensuring that they are properly informed and truly consenting, and that they retain their autonomy and agency (examples in refs. 5,7-12). Dynamic consent models, such as those using ongoing engagement through online media 13,14 , ensure autonomy and choice for participants. However, these models cannot be implemented in many African environments, owing to suboptimal internet and smartphone access, and poor digital literacy. In broad-consent models, participants consent to all future use of their samples under the oversight of an access committee, but this consent comes at the cost of the autonomy and individual preferences of participants 10,15. Tiered informed consent addresses these challenges by providing detailed information about the intended specimen/data use and storage, thus enabling participants to individually select a level of specimen and/or data sharing through responses to specific questions 10,16-18. The launch of the H3Africa genotyping chip, with 2.7 million African-specific genomic variants 19 , has increased opportunities for meta-analyses combining multiple cohorts of African participants. To undertake such studies with an ethical mandate, research participants must be properly informed, and their data/ sample-use preferences must be accurately understood, faithfully recorded and implemented with integrity. We propose a framework for undertaking ethically sound, tiered-informed-consent processes in Africa, which provides a comprehensive guide on compiling participant information and an informed-consent template for capturing each participant's consent information and mapping it to data-use ontologies.

Participant understanding of informed consent in a multidisease community-based health screening and biobank platform in rural South Africa

“…This is in line with previous research and has been identified as a framework tenet for informed consent of genetic research in Africa. 8 …”

“… 4 , 5 This is especially true of research with complex procedures and involving innovative approaches such as genetics and biobanking. 6 – 8 Biobanking involves the collection of biological samples, including blood, urine and other human body tissues and fluids. These approaches have the potential to transform healthcare, leading to precision medicine that involves knowing an individual's genomic traits, thus making it easier to guide disease prevention, diagnosis and treatment.…”

Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review

“…The unique consenting procedure for PGx testing in SSA populations is also noteworthy. It has been suggested that informed consent for African populations needs to be modelled relative to the culture and ethics of the communities and not extrapolated from Western cultures [ 74 , 77 ]. A tiered informed consent involving the use of African colloquialisms to explain hereditary has been suggested for use in African cohorts [ 77 ].…”

“…It has been suggested that informed consent for African populations needs to be modelled relative to the culture and ethics of the communities and not extrapolated from Western cultures [ 74 , 77 ]. A tiered informed consent involving the use of African colloquialisms to explain hereditary has been suggested for use in African cohorts [ 77 ]. Overcoming these observed social and ethical barriers will require collaboration between clinicians, genetic councillors, and research experts to provide robust institutional support for the successful implementation of PGx testing.…”

Policy makers, regulators and researchers’ perspectives on genomics research and the capacity of the National Health Research Act of 2013 to regulate genomics research in Zambia

“…See Nembaware N et al A framework for tiered informed consent for health genomic research in Africa. Nature Genetics 2019 3 . "Tiered informed consent addresses these challenges by providing detailed information about the intended specimen/data use and storage, thus enabling participants to individually select a level of specimen and/or data sharing through responses to specific questions."…”