ophthalmologic, auditory, and/or skin and hair features were more likely to receive a genetic diagnosis using genome sequencing. By identifying these features in a patient, physicians could determine if a patient is a good candidate for genome sequencing. Cooper and his lab recently received a grant from the Muscular Dystrophy Association for a project that could afford a diagnosis to some patients who did not receive one during SouthSeq. The team believes that many neu- romuscular disorders result from genetic variation that cannot be detected using standard short-read sequencing. Researchers will resequence the genomes of a subset of patients with neuromuscular disease phenotypes using a newer technology called long-read sequencing that they hope will detect more genetic variation than short- read sequencing.
Most care and services that improve functioning and quality of life for children with complex genetic conditions occur outside doctors’ offices: physical therapy, occupa- tional therapy, speech-language pathology, behavioral intervention and other mental healthcare, and special education services. In addition, families can connect with support groups of others with similar diagnoses. Cooper and University of Louisville pediatrician and associate professor Kyle Brothers, MD, PhD, aim to assess the long- term impacts a genetic diagnosis may have on families and individuals with a genetic disorder. By interviewing families of children who have received a genetic diagnosis for their previously undiagnosed con- dition, Cooper and Brothers hope to shed light on the com- munity-based benefits of such a diagnosis. The ultimate goal is to define the utility of genetic testing so that it is more widely accessible to every individual who may benefit from the technology. ■
IMPLICATIONS OF A GENOME SEQUENCING INFORMED DIAGNOSIS
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Although Cooper’s lab and their collaborators have given diagnoses to numerous families, many rare diseases do not have treatments or cures. For this reason, efforts to translate genomic sequencing technologies into clinical care have faced ongoing challenges in defining and mea- suring utility. It is currently unknown whether receiving a genomic diagnosis improves the quality of life for children and their families.
Through research studies and initiatives like Clinical Sequencing Exploration Research (CSER), Alabama Genomic Health Initiative (AGHI), and SouthSeq, Greg Cooper, PhD and his lab have sequenced more than 1,700 affected individuals. The team has provided genetic diagnoses to hundreds of these children and their families.
RESEARCH REPORT
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