2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Genetic Testing in an Adult Neuromuscular Clinic: Diagnostic Yield and Testing Strategies

Pdf Summary

This study focused on the use of genetic testing in an adult neuromuscular clinic and evaluated the diagnostic yield and testing strategies. The researchers found that genetic testing positively impacts patients by improving treatment, management, and access to support resources and clinical trials. The diagnostic yield of neuromuscular genetic testing ranged from 10-40% depending on the patient phenotype and type of test ordered.<br /><br />The current testing strategy involves ordering a multi-gene panel first and then reflex to exome sequencing if the panel is uninformative. The majority of diagnostic results were identified through multi-gene panels, which had a similar diagnostic yield to exome sequencing when ordered as an initial test. Exome sequencing should be offered to patients with uninformative initial testing due to its diagnostic yield of nearly 20%. However, barriers such as limited insurance coverage and high costs may impact its use as an initial test.<br /><br />The study also highlighted the challenges posed by variants of uncertain significance (VUS), particularly on multi-gene panels. These VUS can complicate test results and hinder the diagnosis of affected patients, limiting their access to treatments and clinical trials. Future studies should focus on improving the diagnostic yield by resolving VUS and determining the demographics of individuals most likely to receive diagnostic results.<br /><br />Overall, this study emphasizes the importance of genetic testing in neuromuscular patients and highlights the need to optimize testing strategies to improve diagnostic yield and patient outcomes.

Asset Subtitle

Presenting Author - Kelsey Johnson, MS, CGC; Co-Author - Meron Azage, MS, CGC; Co-Author - Nareen Babaian, BS; Co-Author - Aaron Baldwin, MS, CGC; Co-Author - Laynie Dratch, MS, CGC; Co-Author - Rachel Paul, MS, CGC; Co-Author - Colin Quinn, MD; Co-Author - Tanya Bardakjian;

Meta Tag

Brain/Nervous System

Exome sequencing

Genetic Testing

Neuroscience

Sequencing

Co-Author Meron Azage, MS, CGC

Co-Author Nareen Babaian, BS

Co-Author Aaron Baldwin, MS, CGC

Co-Author Laynie Dratch, MS, CGC

Co-Author Rachel Paul, MS, CGC

Co-Author Colin Quinn, MD

Co-Author Tanya Bardakjian

Presenting Author Kelsey Johnson, MS, CGC

Keywords

genetic testing

adult neuromuscular clinic

diagnostic yield

testing strategies

treatment

management

support resources

clinical trials

multi-gene panel

exome sequencing