Abstract
Nearly 2 decades into the genomic era, individuals with mendelian disorders, which are conditions caused by pathogenic variation in a single gene, have experienced improved health outcomes and life expectancy. Clinicians must be able to identify and care for these patients across the lifespan. Recognizing common presentations of mendelian disorders can prevent invasive testing, shorten the diagnostic odyssey, and permit treatment. Medical education should encourage clinical genetics literacy, including basic understanding of genetic testing. Vakharia et al demonstrate how knowledge of rare monogenic conditions, specifically inherited metabolic disorders, can improve clinical care and patient health. Greater awareness and application of medical genetics is necessary in modern medicine.
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