Abstract Details

Title Genetic Testing Analysis in Patients with Neuromuscular Disorders: A Single Health System Experience

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P5 - Poster Session 5 (11:45 AM-12:45 PM)

Poster/Presentation
Number 11-001

Objective To analyze the use of genetic testing by the neuromuscular division at Geisinger Health System (GHS).

Background Genetic testing has become widely available, leading to precise diagnosis of hereditary neuromuscular disorders. The incorporation of a genetic counselor to our department has had multiple benefits including appropriate test selection, patient education pre-test and post-test, and interpretation of variants of uncertain significance (VUS).

Design/Methods We reviewed genetic tests ordered for patients with neuromuscular disorders from July 2019 to July 2021 across the GHS.

Results Two hundred and fifty-nine patients underwent genetic testing. There were 143 (55%) males and 116 (45%) females. Three-hundred gene tests were ordered, including 223 (75%) gene panels and 77 (25%) single gene tests. Gene panels for neuropathy were the most common panels ordered (115, 38%). The most common single gene tested was transthyretin (22, 7%). Of the 259 patients tested, 49 had diagnostic pathogenic variants (19%), 19 were carriers of a recessive condition (7.3%), 64 had at least one VUS (25%), and 127 had normal results (49%). The tests with the highest yield were the spinal muscular atrophy panel with 5 pathogenic results of 8 tested (63%), and myotonia gene panel with 8 pathogenic results of 14 tested (57%). Transthyretin gene testing had the lowest yield (No pathogenic variants). One hundred and fifty-five patients (60%) had a genetic counseling visit either before and/or after their test.

Conclusions Genetic testing for neuromuscular disorders was diagnostic in 19% of cases at our institution. The tests with the highest yield were those for disorders with a distinctive phenotype and/or features on electrodiagnostic studies. Opportunities for improvement include more consistent use of genetic counseling and better patient selection for transthyretin gene testing.

Authors/Disclosures
Madelyn K. Smiley PRESENTER	Miss Smiley has nothing to disclose.
J. David Avila, MD, FAAN (Geisinger Medical Center)	Dr. Avila has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AstraZeneca. Dr. Avila has received personal compensation in the range of $50,000-$99,999 for serving on a Speakers Bureau for Alnylam Pharmaceuticals. Dr. Avila has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for argenx. Dr. Avila has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Alexion Pharmaceuticals. Dr. Avila has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for UCB. Dr. Avila has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for AstraZeneca. Dr. Avila has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Takeda.
Scott M. Friedenberg, MD, FAAN (Geisinger Medical Center)	The institution of Dr. Friedenberg has received research support from AMA. The institution of Dr. Friedenberg has received research support from Geisinger Medical Center.
	No disclosure on file

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