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

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

An assessment of food supplementation to chronically sick patients receiving home based care in Bangwe, Malawi : a descriptive study

BACKGROUND: The effect of food supplementation provided by the World Food Programme to patients and their families enrolled in a predominantly HIV/AIDS home based care programme in Bangwe Malawi is assessed. METHODS: The survival and nutritional status of patients and the nutritional status of their families recruited up to six months before a food supplementation programme started are compared to subsequent patients and their families over a further 12 months. RESULTS: 360 patients, of whom 199 died, were studied. Food supplementation did not improve survival but had an effect (not statistically significant) on nutritional status. Additional oil was given to some families; it may have improved survival but not nutritional status. CONCLUSION: Food supplementation to HIV/AIDS home based care patients and their families does not work well. This may be because the intervention is too late to affect the course of disease or insufficiently targeted perhaps due to problems of distribution in an urban setting. The World Food Programme's emphasis on supplementary feeding for these families needs to be reviewed

Rescuing NCEA: Some Possible Ways Forward

This article examines the issue of “variability” that resulted in widespread media criticisms of the 2004 Scholarship examinations in New Zealand. The authors argue that the New Zealand Qualifications Authority (NZQA) and the Ministry of Education have taken an ideological position on the use of standards-based assessment, ignoring the evidence both from the literature and from international experience that recognises the immense difficulties in implementing a “pure” form of standards-based assessment. The article questions the capacity of NZQA to administer the National Certificates of Educational Achievement (NCEA), given the outcomes of the 2002-2004 period of implementation. It concludes by recommending 13 key changes or developments that are needed to redress the problems currently plaguing NCEA and Scholarship

The ‘experimental public’ in longitudinal health research: views of local leaders and service providers in rural South Africa

Abstract Background The concept of ‘experimental public’ has been recently applied to publics involved in clinical trials. This term could also be applied to publics involved in longitudinal research such as health and demographic surveillance systems. The ethics of practice and public engagement with these experimental publics are of key importance and include issues of informed consent, confidentiality, collection of body tissue samples and fair local benefit. Methods Individual (n = 11) and focus group (n = 5) qualitative semi-structured interviews were conducted with 56 local leaders and service providers regarding their views about research activities in a longitudinal health research study site run by the MRC/Wits Rural Public Health and Health Transitions Research Unit (Agincourt) in rural South Africa. Deductive and inductive thematic analysis was undertaken using NVivo software to identify the emergent themes. Results There was an understanding of the usefulness of collecting demographic data, but reasons for gathering other contextual data such as on food security, as well as the reasons for collection of blood was less clear. While appreciation was expressed for feedback of individual results such as blood pressure levels during home-based data collection, there were requests for more results from biomarkers, and for these to be given at home, rather than at the clinic. There were reports of indirect refusals, and offers by leaders to assist in reducing refusal rates. There were concerns about confidentiality, especially in the publication of results. Some leaders would have liked to receive more individual level data for planning of services, although they understood this would breach confidentiality. Service providers were concerned about the withdrawal of some services post intervention trials. Conclusions This experimental public has, over time, developed a nuanced understanding of the reasons for research and the procedures undertaken. Discussions concerning fair benefit ranged from requests for more individual clinically-relevant results for participants, to understanding how research results could assist in planning of public health services at local and national levels. The concerns illustrate the complexity of the ethics of practice which has implications for policy, practice and governance for those working in longitudinal health research sites globally