Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
D Kariyawasam et al, EJHG, June 27, 2022
A retrospective population-based cohort study of all genetically and/or histopathologically confirmed males with DMD, born in New South Wales and the Australian Capital Territory was undertaken from 2002–2012. Cases were identified using state-wide molecular laboratory and clinical databases. The annual disease incidence and “theoretically” preventable cases were extrapolated over the study period. Proband genotype/phenotype, pedigree analysis, carrier-risk and extent of cascade screening were also determined. The cumulative incidence of disease was 19.7 per 100,000 male live births and 1 in 5076 live born males were diagnosed with DMD.
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives
TS Schmiden et al, Frontiers in Genetics, June 16, 2022
As population-based and proactive screening methods begin to become more widespread, it is critical to understand how these testing approaches may impact at-risk relatives. Currently, the utilization of cascade testing in a non-indication-based, proactive setting is less well understood and uptake rates have not yet been reported. This study compared findings between two cohorts that differed in how NGS was pursued: indication-based diagnostic testing versus non-indication-based proactive screening. The findings reported allow not only for insights into differences between diagnostic and proactive results, but also more generally to ordering patterns for diagnostic testing or proactive screening for HCS and FH.
Cardiovascular Genetics: The Role of Genetics in Predicting Risk.
Chowns Jessica et al. The Medical clinics of North America 2022 106(2) 313-324
Many cardiovascular disorders have underlying genetic causes. Clinical genetic testing for cardiovascular disease has become widely available and can be useful for diagnosis, management, and cascade screening in selected conditions and circumstances. This article gives an overview of the current state of genetic testing in inherited cardiovascular conditions, who can benefit from it, and the associated challenges.
Equitable Implementation of Cascade Testing for Genetic Disorders: Where are We?
M Clyne et al, CDC Blog Post, January 31, 2022
Testing relatives of individuals with genetic disorders, a process known as cascade testing or cascade screening, is critical for identifying those needing health services that can prevent morbidity and mortality. Yet, cascade testing is poorly implemented in clinical practice.