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Article
Re-envisioning community genetics: community empowerment in preventive genomics
As genomic technologies rapidly develop, polygenic scores (PGS) are entering into a growing conversation on how to improve precision in public health and prevent chronic disease. While the integration of PGS i...
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Article
Including multiracial individuals is crucial for race, ethnicity and ancestry frameworks in genetics and genomics
Current ontologies of race, ethnicity and genetic ancestry rely on categorization, but have limitations — as exemplified by multiracial individuals. We argue that including these individuals will foster inclus...
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Article
Open AccessClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure ...
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Article
Open AccessApplication of a framework to guide genetic testing communication across clinical indications
Genetic information is increasingly relevant across healthcare. Traditional genetic counseling (GC) may limit access to genetic information and may be more information and support than some individuals need. W...
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Article
Improving reporting standards for polygenic scores in risk prediction studies
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease ri...
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Article
Open AccessFinding missed cases of familial hypercholesterolemia in health systems using machine learning
Familial hypercholesterolemia (FH) is an underdiagnosed dominant genetic condition affecting approximately 0.4% of the population and has up to a 20-fold increased risk of coronary artery disease if untreated....
