High specificity makes DNA screening the method of choice for diagnosis of familial hyper-cholesterolaemia

No Abstract

Editorial

High specificity makes DNA screening the method of choice for diagnosis of familial hypercholesterolaemia

Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population

Objective. Familial hypercholesterolaemia (FH) is a common genetic disease characterised by strikingly elevated. plasma cholesterol concentration, which can lead to premature coronary death if left untreated. In this study DNA diagnosis of FH, which allows detection before onset of clinical symptoms, was evaluated against biochemical parameters routinely used to identify subjects with FH.Design. A population-based strategy was used to identify low-density lipoprotein receptor (LDLR) gene defects in South Africans with clinical signs of FH, followed by a family-based DNA screening approach for presymptomatic diagnosis of FH.Results. DNA screening of 790 at-risk relatives for the FHrelated mutations identified in 379 index cases, allowed accurate disease diagnosis in an additional 338 relatives and exclusion of the relevant mutation in 452 individuals. The sensitivity and speeifidty of the diagnosis, based on total cholesterol values measured in family members of FH heterozygous index cases with one of the three founderrelated mutations, D154N, D206E and V408M, were 89.3% and 81.9%, respectively.Conclusion. The predominance of 10 LDLR gene mutations in the local population justifies population-directed D A diagnosis of FH in South Africa on a routine basis, particularly since expression of the defective gene measured in biochemical tests does not allow accurate diagnosis of FH in all cases. D A testing provides a definitive tool for family tracing aimed at pre-clinical diagnosis and preventive treatment of FH

Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population

No Abstract

Rapid thrombophilia genetic test facilities improved prenatal care for mohter and child

No Abstract. South African Family Practice Vol. 47(7) 2005: 50-5

A view on genomic medicine activities in Africa: Implications for policy

Genomics policy development involves assessing a wide range of issues extending from specimen collection and data sharing to whether and howto utilize advanced technologies in clinical practice and public health initiatives. A survey was conducted among African scientists and stakeholders with an interest in genomic medicine, seeking to evaluate: 1) Their knowledge and understanding of the field. 2) The institutional environment and infrastructure available to them. 3) The state and awareness of the field in their country. 4) Their perception of potential barriers to implementation of precision medicine

Editorial : Implementation of genomic medicine in Africa : one continent, one vision

The translation of genetic research from bench to bedside involves multiple choices related to clinician-patient shared decision-making, with ethical implications at every step of the way. Given the evolving evidence base and limited genomic data from African genomes, we were delighted to receive three reviews, one opinion article, three perspectives, six original papers, and a brief research report with a checklist for assessment of the readiness to implement public health genomics. The latter contribution by Jongeneel et al. included survey results previously generated in parallel to the development of a framework for implementation of genomic medicine in Africa, which was published in February 2021 on commission of the African Academy of Sciences (https://www.aasciences.africa/publications/policy-paper-frameworkimplementation- genomic-medicine-public-health-africa). The Policy Brief summarized this framework for personalized genomic medicine as the foundation of the current translational Research Topic, showcasing collated evidence of applied knowledge in Africa to enable translation of research into clinical practice, as the study endpoint. The wide range of methodologies used, and implementation approaches presented, were evaluated for evidence of transition from population to individualised risk stratification required for the application of personalised genomic medicine.http://www.frontiersin.org/Geneticsam2024School of Health Systems and Public Health (SHSPH)Non

Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians

No Abstract