Returning incidental findings in African genomics research

Wonkam, Ambroise; Vries, Jantina de

doi:10.1038/s41588-019-0542-4

Cited by 44 publications

(41 citation statements)

References 33 publications

(37 reference statements)

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“…The scientific imperative of genomic research of African populations is expected to enhance genetic medicine knowledge and practice in Africa but will face the challenges of overburdened and under-resourced public health-care systems, and often absent ethical, legal and social implication frameworks 43 , requiring international collaboration to be managed. Developing an African genomics workforce will be necessary to meet the major need for research across the lifespan for cohorts of millions of individuals with complex or monogenic diseases.…”

Section: African Genomics — the Next Frontiermentioning

confidence: 99%

The road ahead in genetics and genomics

et al. 2020

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In celebration of the 20th anniversary of Nature Reviews Genetics , we asked 12 leading researchers to reflect on the key challenges and opportunities faced by the field of genetics and genomics. Keeping their particular research area in mind, they take stock of the current state of play and emphasize the work that remains to be done over the next few years so that, ultimately, the benefits of genetic and genomic research can be felt by everyone.

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Section: African Genomics — the Next Frontiermentioning

confidence: 99%

The road ahead in genetics and genomics

et al. 2020

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“…In many regions, where malaria is highly prevalent, inherited blood disorders overlap in prevalence, such that investment in genetic counseling capacity-building in these areas may be leveraged 22 . This could be achieved by increasing the number of genetics professionals being trained annually and building such opportunities into genomics research projects, or by equipping other healthcare staff, including nurses and community healthcare workers to interpret genetic knowledge 62 .…”

Section: Introductionmentioning

confidence: 99%

Optimizing G6PD testing for Plasmodium vivax case management and beyond: why sex, counseling, and community engagement matter

et al. 2020

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Safe access to the most effective treatment options for Plasmodium vivax malaria are limited by the absence of accurate point-of-care testing to detect glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common human genetic disorder. G6PD-deficient patients are at risk of life-threatening hemolysis when exposed to 8-aminoquinolines, the only class of drugs efficacious against P. vivax hypnozoites. Until recently, only qualitative tests were available in most settings. These can identify patients with severe G6PD deficiency (mostly male) but not patients with intermediate G6PD deficiency (always female). This has led to and reinforced a gap in awareness in clinical practice of the risks and implications of G6PD deficiency in females—who, unlike males, can have a heterozygous genotype for G6PD. Increasing recognition of the need for radical cure of P. vivax, first for patients’ health and then for malaria elimination, is driving the development of new point-of-care tests for G6PD deficiency and their accessibility to populations in low-resource settings. The availability of user-friendly, affordable, and accurate quantitative point-of-care diagnostics for the precise classification of the three G6PD phenotypes can reduce sex-linked disparities by ensuring safe and effective malaria treatment, providing opportunities to develop supportive counseling to enhance understanding of genetic test results, and improving the detection of all G6PD deficiency phenotypes in newborns and their family members.

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“…As part of an ancillary care of a social science research project initially designed to understand the community's knowledge of FXS in that particular setting, and as a result of a pressing demand from the family members, we provided genetic counselling and testing for extended relatives in this large family [28]. Cascade testing, which is a systematic process of identifying individuals at risk of contracting a hereditable condition [29], has successfully been practiced in programs aimed at identifying individuals susceptible of having a genetic condition [30][31][32].…”

Section: Introductionmentioning

confidence: 99%

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Kamga

Nguefack

Minka

et al. 2020

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Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of 46 individuals were tested for FXS; among them, 58.70% (n = 27) were females. The mean age was 9.4 (±5) years for children and 45.9 (±15.9) years for adults. Pedigree analysis suggested that the founder of these families was likely a normal transmitting male. Four out of 19 males with clinical ID were confirmed to have a full mutation for FXS, while 14/27 females had a pathologic CGG expansion (>56 CGG repeats) on one of their X chromosomes. Two women with premature menopause were confirmed of being carriers of premutation (91 and 101 CGG repeats). We also identified maternal alleles (91 and 126 CGG repeats) which expanded to a full mutation in their offspring (>200 CGG repeats). This study is a rare report on FXS from Africa and illustrates the case scenario of implementing genetic medicine for a neurogenetic condition in a rural setting.

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Returning incidental findings in African genomics research

Abstract: Ancestral and geographical issues underlie the need to develop Africa-specific guidelines for the return of genomic research results in Africa. In this Commentary, we outline the challenges that will inform policies and practices moving forward.

Cited by 44 publications

References 33 publications

The road ahead in genetics and genomics

The road ahead in genetics and genomics

Optimizing G6PD testing for Plasmodium vivax case management and beyond: why sex, counseling, and community engagement matter

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

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