Genomic Screening for Malignant Hyperthermia Susceptibility

Leslie G. Biesecker, M.D.; Robert T. Dirksen, Ph.D.; Thierry Girard, M.D.; Philip M. Hopkins, M.D.; Sheila Riazi, M.D.; Henry Rosenberg, M.D.; Kathryn Stowell, Ph.D.; James Weber, Ph.D.


Anesthesiology. 2020;133(6):1277-1282. 

In This Article

Consultation Services to Confirm Diagnoses and Educate Individuals With MH Susceptibility

A genetic test, even with physiologic confirmation is not enough: these individuals also need access to a knowledgeable provider (most likely anesthesiologist, neurologist specializing in myopathy, or a clinical geneticist) to engage with the affected individual to analyze the test results, make the clinical–molecular diagnosis, and educate the patient, their family, and care provider about their disorder. The affected individual is a key part of the puzzle—it will be critical that they accept and understand their diagnosis and its implications to maximize the likelihood that the information is used to their benefit. Support groups such as Malignant Hyperthermia Association of the United States (in North America) can be helpful to identify experts and provide information (see links in the appendix).

There must be support also for care providers unfamiliar with incorporating genomic test information into anesthetic management decisions. Taking the data from the advances we propose into account, professional bodies (such as the American Society of Anesthesiologists) will need to develop policies and practice standards that are based on the risk stratification of genomic predictive testing. An analogous approach has been adopted in obstetrics, where the highly complex noninvasive prenatal genomic screening test has been rapidly taken up, with clear guidelines and risk determinations. Such guidelines are no guarantee of good care, nor are they a perfect shield from liability, but they give providers clear guidance and substantially lessen risks.