H3Africa provides an unprecedented opportunity to study genetic and genomic technologies into research, diagnosis, intervention, and treatment for sickle cell disease (SCD) in Africa. As such, involving a few African Centers already involved in the forefront of Sickle Cell Disease Research in Africa with moderate expertise on psychosocial research (Cameroon), newborn screening (Ghana) or genomics studies (Tanzania) could serves as a reservoir for rigorous examination of a wide range of accompanying ethical, psychosocial, cultural, and policy issues. While there is a moderate amount of speculation and some theoretical/conceptual literature about the perceptions, utility, and impact of genomic research and SCD-related public health strategies in Africa, little empirical data are available. Empirical data from a broad spectrum of stakeholders are essential to the development of effective policies and programs. A major objective of this pilot project is to advance our understanding of the perspectives of researchers, health professionals, and community populations within our collaborative network concerning both genomic research and the public health aspects of SCD. We will employ qualitative research methods to pursue the following specific aims:
Aim 1 : Explore perspectives and attitudes regarding genomic research and its implementation and implications in Cameroon, Ghana and Tanzania.
Aim 2 : Assess perceptions about public health interventions to increase awareness, early detection, and prevention of SCD-related complications. This research is the first phase of a series of longitudinal, mixed method studies exploring individual, family, community, and professional perspectives on genomic research and SCD-related public health interventions. This formative research will help us to define the most effective strategies for: 1) implementing genomic research and addressing the pertinent issues and 2) insuring informed decision-making about and optimal uptake of newborn screening, other public health interventions for SCD, and the related services.

Public Health Relevance

While there is a moderate amount of speculation and some theoretical/conceptual literature about the perceptions, utility, and impact of genomic research and SCD-related public health strategies in Africa, little empirical data are available. Empirical data from a broad spectrum of stakeholders are essential to the development of effective policies and programs. A major objective of this project is to advance our understanding of the perspectives of research scientists, health professionals, SCD patients and community populations within our collaborative network concerning both genomic research and the public health aspects of SCD. We will employ qualitative research methods to pursue the following specific aims: Aim 1: Explore perspectives and attitudes regarding genomic research and its implementation and implications in Cameroon, Ghana, and Tanzania. Aim 2: Assess perceptions about public health interventions to increase awareness, early detection, and prevention of SCD-related complications. This research is the first phase of a series of longitudinal, mixed method studies exploring individual, family, community, and professional perspectives on genomic research and SCD-related public health interventions. This formative research will help us to define the most effective strategies for: 1) implementing genomic research and addressing the pertinent issues and 2) insuring informed decision-making about and optimal uptake of newborn screening, other public health interventions for SCD, and the related services

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project--Cooperative Agreements (U01)
Project #
5U01HG007459-02
Application #
8737931
Study Section
Special Emphasis Panel (ZHG1-HGR-P (M2))
Program Officer
Madden, Ebony B
Project Start
2013-09-20
Project End
2016-07-31
Budget Start
2014-08-01
Budget End
2015-07-31
Support Year
2
Fiscal Year
2014
Total Cost
$202,743
Indirect Cost
$15,018
Name
University of Cape Town
Department
Type
DUNS #
568227214
City
Rondebosch
State
Country
South Africa
Zip Code
7700
Mulder, Nicola; Nembaware, Victoria; Adekile, Adekunle et al. (2016) Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease. Appl Transl Genom 9:23-9
Pule, Gift Dineo; Mowla, Shaheen; Novitzky, Nicolas et al. (2016) Hydroxyurea down-regulates BCL11A, KLF-1 and MYB through miRNA-mediated actions to induce γ-globin expression: implications for new therapeutic approaches of sickle cell disease. Clin Transl Med 5:15
Geard, Amy; Pule, Gift D; Chelo, David et al. (2016) Genetics of Sickle Cell-Associated Cardiovascular Disease: An Expert Review with Lessons Learned in Africa. OMICS 20:581-592
Mnika, Khuthala; Pule, Gift D; Dandara, Collet et al. (2016) An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. OMICS 20:565-574
Mulder, Nicola J; Adebiyi, Ezekiel; Alami, Raouf et al. (2016) H3ABioNet, a sustainable pan-African bioinformatics network for human heredity and health in Africa. Genome Res 26:271-7
Wonkam, Ambroise; Makani, Julie; Ofori-Aquah, Solomon et al. (2015) Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients. Cardiovasc J Afr 26:S50-5
Pule, Gift D; Mowla, Shaheen; Novitzky, Nicolas et al. (2015) A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease. Expert Rev Hematol 8:669-79
Wonkam, Ambroise; Ngo Bitoungui, Valentina Josiane; Ngogang, Jeanne (2015) Perspectives in Genetics and Sickle Cell Disease Prevention in Africa: Beyond the Preliminary Data from Cameroon. Public Health Genomics 18:237-41
Pule, Gift Dineo; Ngo Bitoungui, Valentina Josiane; Chetcha Chemegni, Bernard et al. (2015) Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions. OMICS 19:627-31
Wonkam, Ambroise; Hurst, Samia (2014) A call for policy action in sub-Saharan Africa to rethink diagnostics for pregnancy affected by sickle cell disease: differential views of medical doctors, parents and adult patients predict value conflicts in Cameroon. OMICS 18:472-80

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