scholarly journals Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

2015 ◽  
Vol 17 (6) ◽  
pp. 505-507 ◽  
Author(s):  
Keyword(s):  
Clinical Utility ◽  
Position Statement ◽  
Medical Genetics ◽  
Genetics And Genomics

scholarly journals Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Hannah Gelman ◽  
◽  
Jennifer N. Dines ◽  
Jonathan Berg ◽  
Alice H. Berger ◽  
...  
Keyword(s):  
Functional Data ◽  
Clinical Utility ◽  
Medical Genetics ◽  
Variant Interpretation ◽  
Variants Of Uncertain Significance ◽  
Uncertain Significance ◽  
Genetics And Genomics ◽  
New Guidelines

AbstractVariants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity. Such assays have the potential to resolve variants of uncertain significance, thereby increasing the clinical utility of genomic testing. Existing standards from the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) and new guidelines from the Clinical Genome Resource (ClinGen) establish the role of functional data in variant interpretation, but do not address the specific challenges or advantages of using functional data derived from multiplexed assays. Here, we build on these existing guidelines to provide recommendations to experimentalists for the production and reporting of multiplexed functional data and to clinicians for the evaluation and use of such data. By following these recommendations, experimentalists can produce transparent, complete, and well-validated datasets that are primed for clinical uptake. Our recommendations to clinicians and diagnostic labs on how to evaluate the quality of multiplexed functional datasets, and how different datasets could be incorporated into the ACMG/AMP variant-interpretation framework, will hopefully clarify whether and how such data should be used. The recommendations that we provide are designed to enhance the quality and utility of multiplexed functional data, and to promote their judicious use.

scholarly journals Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

2016 ◽  
Vol 18 (10) ◽  
pp. 1056-1065 ◽  
Author(s):  
Anthony R. Gregg ◽  
◽  
Brian G. Skotko ◽  
Judith L. Benkendorf ◽  
Kristin G. Monaghan ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Position Statement ◽  
Medical Genetics ◽  
Noninvasive Prenatal Screening ◽  
Fetal Aneuploidy ◽  
Genetics And Genomics
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