Ethical and legal implications of whole genome and whole exome sequencing in African populations

BMC Med Ethics. 2013 May 28:14:21. doi: 10.1186/1472-6939-14-21.

Abstract

Background: Rapid advances in high throughput genomic technologies and next generation sequencing are making medical genomic research more readily accessible and affordable, including the sequencing of patient and control whole genomes and exomes in order to elucidate genetic factors underlying disease. Over the next five years, the Human Heredity and Health in Africa (H3Africa) Initiative, funded by the Wellcome Trust (United Kingdom) and the National Institutes of Health (United States of America), will contribute greatly towards sequencing of numerous African samples for biomedical research.

Discussion: Funding agencies and journals often require submission of genomic data from research participants to databases that allow open or controlled data access for all investigators. Access to such genotype-phenotype and pedigree data, however, needs careful control in order to prevent identification of individuals or families. This is particularly the case in Africa, where many researchers and their patients are inexperienced in the ethical issues accompanying whole genome and exome research; and where an historical unidirectional flow of samples and data out of Africa has created a sense of exploitation and distrust. In the current study, we analysed the implications of the anticipated surge of next generation sequencing data in Africa and the subsequent data sharing concepts on the protection of privacy of research subjects. We performed a retrospective analysis of the informed consent process for the continent and the rest-of-the-world and examined relevant legislation, both current and proposed. We investigated the following issues: (i) informed consent, including guidelines for performing culturally-sensitive next generation sequencing research in Africa and availability of suitable informed consent documents; (ii) data security and subject privacy whilst practicing data sharing; (iii) conveying the implications of such concepts to research participants in resource limited settings.

Summary: We conclude that, in order to meet the unique requirements of performing next generation sequencing-related research in African populations, novel approaches to the informed consent process are required. This will help to avoid infringement of privacy of individual subjects as well as to ensure that informed consent adheres to acceptable data protection levels with regard to use and transfer of such information.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Black People / genetics*
  • Community-Based Participatory Research / ethics
  • Community-Based Participatory Research / legislation & jurisprudence
  • Computer Security / ethics
  • Computer Security / legislation & jurisprudence
  • Confidentiality / ethics
  • Confidentiality / legislation & jurisprudence
  • Educational Status
  • Exome* / genetics
  • Genetic Privacy / ethics*
  • Genetic Privacy / legislation & jurisprudence*
  • Genetic Research / ethics*
  • Genetic Research / legislation & jurisprudence*
  • Genome, Human / genetics*
  • Genomics* / ethics
  • Genomics* / legislation & jurisprudence
  • Humans
  • Incidental Findings
  • Information Dissemination / ethics
  • Information Dissemination / legislation & jurisprudence
  • Informed Consent / ethics*
  • Informed Consent / legislation & jurisprudence*
  • National Institutes of Health (U.S.)
  • Research Personnel / ethics
  • Research Subjects / legislation & jurisprudence*
  • Research Support as Topic
  • Retrospective Studies
  • Sequence Analysis, DNA / ethics*
  • United Kingdom
  • United States
  • Vulnerable Populations