Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework
| Autor: | Ozlem Senol-Cosar, Marzia Pasquali, Meredith A. Weaver, Wei Shen, Justyne Ross, Annette Feigenbaum, Gregory M. Enns, Kathleen Wallace, Elaine Lyon, Rong Mao, Jennifer McGlaughon, Heather Baudet |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Endocrinology Diabetes and Metabolism Disease 030105 genetics & heredity Bioinformatics Biochemistry Lipid Metabolism Inborn Errors 03 medical and health sciences Strength of evidence Neonatal Screening 0302 clinical medicine Endocrinology Genetics medicine Humans Genetic Predisposition to Disease Clinical significance Genetic Testing Molecular Biology Beta oxidation Gene Genetic testing Newborn screening medicine.diagnostic_test business.industry Fatty Acids Infant Newborn Reproducibility of Results Clinical validity business Oxidation-Reduction 030217 neurology & neurosurgery |
| Zdroj: | Molecular Genetics and Metabolism. 128:122-128 |
| ISSN: | 1096-7192 |
| Popis: | Newborn screening is an incredibly useful tool for the early identification of many metabolic disorders, including fatty acid oxidation (FAO) disorders. In many cases, molecular tests are necessary to reach a final diagnosis, highlighting the need for a thorough evaluation of genes implicated in FAO disorders. Using the ClinGen (Clinical Genome Resource) clinical validity framework, thirty genes were analyzed for the strength of evidence supporting their association with FAO disorders. Evidence was gathered from the literature by biocurators and presented to disease experts for review in order to assign a clinical validity classification of Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Reported Evidence. Of the gene-disease relationships evaluated, 22/30 were classified as Definitive, three as Moderate, one as Limited, three as No Reported Evidence and one as Disputed. Gene-disease relationships with a Limited, Disputed, and No Reported Evidence were found on two, six, and up to four panels out of 30 FAO disorder-specific panels, respectively, in the National Institute of Health Genetic Testing Registry, while over 70% of the genes on panels are definitively associated with an FAO disorder. These results highlight the need to systematically assess the clinical relevance of genes implicated in fatty acid oxidation disorders in order to improve the interpretation of genetic testing results and diagnosis of patients with these disorders. |
| Databáze: | OpenAIRE |
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