2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Prevalence of malignant hyperthermia symptoms in patients receiving <em>RYR1</em> results through a population genomic screening program

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The prevalence of malignant hyperthermia (MH) symptoms in patients with RYR1 variants was investigated in a population genomic screening program. MH is a musculoskeletal disorder that can result in a potentially fatal hypermetabolic response to certain triggering agents, such as anesthetics. Genomic screening for RYR1 pathogenic/likely pathogenic variants, which are responsible for most cases of hereditary MH, can help prevent morbidity and mortality. The study focused on the MyCode population, a community health initiative that links electronic health records (EHR) with genetic testing.<br /><br />The results showed a low frequency of severe MH symptoms in the screened population with RYR1 variants. Only one participant required a triggering agent during the study period, demonstrating the benefit of having RYR1 status integrated into the EHR. Even though severe events were rare, identifying RYR1 status can still be life-saving by avoiding reactions that may occur after exposure to triggering agents. Further research is needed to evaluate the actionability of MH screening in unselected populations and to assess the economic impact.<br /><br />The study included 152 participants with RYR1 variants, none of whom had documented genetic test results or MH diagnoses prior to the study. The analysis of surgical and ambulatory symptoms revealed few instances suspicious for MH. None of the patients exposed to triggering agents required dantrolene treatment. Demographic information showed that the participants had a mean age of 54.4 years, with 65.8% being female and 34.2% male.<br /><br />In conclusion, the study found a low prevalence of MH symptoms in the population screened for RYR1 variants. The integration of RYR1 status into the EHR has the potential to prevent adverse reactions to triggering agents, even though severe events are rare. Further research is necessary to fully understand the clinical impact and economic implications of population screening for MH.

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Co-Author - Kristen D. Yu, MS; Presenting Author - Megan Betts, MS, CGC; Co-Author - Gretchen Thone, MS; Co-Author - Marci LB. Schwartz, MS, CGC; Co-Author - Tanisha O. Robinson, MD; Co-Author - Robert J. Moyer, MD; Co-Author - Scott W. Taddonio, DO; Co-Author - Anasuya Vasudevan, MD; Co-Author - Alicia Johns, PhD; Co-Author - Amy C. Sturm, MS, LGC; Co-Author - Marc S. Williams, MD, FAAP FACMG FACMI; Co-Author - S. Mark Poler, MD; Co-Author - Adam H. Buchanan, MS, MPH, CGC;

Meta Tag

Musculoskeletal system

Phenotype

Co-Author Kristen D. Yu, MS

Co-Author Gretchen Thone, MS

Co-Author Marci LB. Schwartz, MS, CGC

Co-Author Tanisha O. Robinson, MD

Co-Author Robert J. Moyer, MD

Co-Author Scott W. Taddonio, DO

Co-Author Anasuya Vasudevan, MD

Co-Author Alicia Johns, PhD

Co-Author Amy C. Sturm, MS, LGC

Co-Author Marc S. Williams, MD, FAAP FACMG FACMI

Co-Author S. Mark Poler, MD

Co-Author Adam H. Buchanan, MS, MPH, CGC

Presenting Author Megan Betts, MS, CGC

Keywords

malignant hyperthermia

RYR1 variants

population genomic screening

hypermetabolic response

genomic screening

hereditary MH

electronic health records

triggering agents

surgical symptoms

population screening