Clinical Genomics Answers Questions Concerning the Etiology of Neurological and Developmental Disorders View PDF |
Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110 USA
In the past decade, advances in the ability to detect both small sequence variants and larger copy number and structural alterations have augmented scientific and medical understanding of neurodegenerative and neurodevelopmental disorders.
Technologies that have contributed to the advent of new knowledge include high-throughput deep sequencing techniques (next-generation sequencing or NGS) and artificial-intelligence based advanced bioinformatics that allows for careful examination of NGS results.
In medical genetics clinics, the first round of testing may include a chromosomal microarray, biochemical analyses, or a single gene or panel sequencing test, yet a growing portion of the patients undergo whole exome or genome sequencing to uncover their genomic diagnosis.
A review of patient histories and genomic results demonstrates the accuracy and efficacy of such testing to arrive at an answer to a long diagnostic odyssey for many patients.
Knowledge of the cellular function of the genes associated with the underlying diagnosis has led to new therapies and changed the prognosis for some of these patients.