Malignant Hyperthermia Susceptibility and Pathogenic Variants in RYR1 or CACNA1S
0.5 Credits> Accreditation Council for Continuing Medical Education> AMA PRA Category 1 Credit
0.5 Contact Hours> American Nurses Credentialing Center> ANCC
Type: Internet Activity (Enduring Material)
0 Registered Users
Malignant Hyperthermia Susceptibility and Pathogenic Variants in RYR1 or CACNA1S

Course Overview

The use of genomic sequencing as a screening tool to identify disease risk in adults, a GenomeFIRST approach, is quickly becoming part of medicine. With this GenomeFIRST approach, patients will undergo genomic sequencing as a screening test and bring those results to their provider for interpretation and care. The provider may be faced with the question: “Now that I have my patient's sequence, what clinical information do I need to know?”.

These individual CME modules targeted to patient-specific test results will supply you with the knowledge necessary for delivering genomic results to your patients.

The identification of an incidental DNA variant does not constitute a condition diagnosis in a patient; diagnosis is a process.

Target Audience

This activity is designed to meet the educational needs of physicians, physician assistants, nurse practitioners, and allied healthcare professionals in the Geisinger Health System; as well as those same providers anywhere in the world who are ordering genomic sequencing for patients.

Learning Objectives

At the conclusion of this activity, the participant should be able to:

  • Describe the management of a pathogenic variant in RYR1 or CACNA1S,
  • Review the basics of autosomal dominant inheritance,
  • Distinguish the concepts of penetrance and variable expressivity,
  • Define the concepts of pleiotropy and locus heterogeneity, and
  • Discuss the importance of identifying at-risk family members.
Method of Participation

This activity consists of a series of instructional slides with embedded questions which must be answered correctly. A pretest and posttest are administered to assess learner gains. Additional educational resources are provided. The estimated time to complete the activity, including the evaluation survey, is 0.5 hours.

Hardware/software requirements: Activities may be run with recent versions of common browsers. Internet Explorer is recommended.

If you have questions about the participation process, please e-mail the Geisinger Center for Continuing Professional Development, or phone 570-271-6692.

Accreditation and Credit Designation

Geisinger Health System is accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC) to provide continuing education for the healthcare team.

Geisinger Health System designates this enduring material for a maximum of 0.5 AMA PRA Category 1 Credit(s). Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Geisinger Health System designates this enduring material for 0.5 contact hours for nurses. Nurses should only claim the credit commensurate with the extent of their participation in the activity.

Term of Approval

September 2015 through September 2018.

Original release date: September 2015.

Peer Review

In September 2015, this continuing professional development online enduring material was reviewed by Mark Kleman, DO, Internal Medicine, Geisinger Health System, Danville, PA. To ensure the continued scientific relevance of this enduring material, its contents will be reviewed again in September 2018.

Planning Committee

Michael F. Murray, MD, Activity Director

Director of Clinical Genomics

Director of Genomic Medicine Institute - Northeast

Geisinger Health System

Danville, PA

Monica Giovanni, MS, CGC

Clinical Investigator

Geisinger Health System

Danville, PA

Alanna Rahm, PhD, MS, CGC

Clinical Investigator I

Genetic Counselor - Oncology Services

Geisinger Health System

Danville, PA


Michael F. Murray, MD

Director of Clinical Genomics

Director of Genomic Medicine Institute - Northeast

Geisinger Health System

Danville, PA


This Geisinger Health System continuing professional development activity is designed for use by healthcare professionals for educational purposes only. Information and opinions offered by the contributors represent their viewpoints. Conclusions drawn by the participant should be derived from careful consideration of all available scientific information. Prescription information and use of medical devices should be undertaken only after confirmation of information by consulting the FDA-approved uses and information.

While Geisinger makes every effort to have accurate information presented, no warranty, expressed or implied, is offered. The participant should use his/her clinical judgment, knowledge, experience, and diagnostic decision-making before applying any information, whether provided here or by others, for any professional use.

Links are provided to other resources and Internet sites solely for the convenience of users. Once you link to another site, you are subject to that site’s terms and conditions of use including copyright and licensing restrictions.

CME Disclosure

Geisinger Health System Center for Continuing Professional Development makes every effort to develop CPD activities that are scientifically based, accurate, current, and objectively presented. In accordance with the Accreditation Council for Continuing Medical Education Standards for Commercial Support, Geisinger has implemented a mechanism requiring everyone in a position to control the content of an educational activity (e.g., directors, planning committee members, contributors, peer reviewers) to disclose any relevant financial relationships with commercial interests (drug/device companies) and manage/resolve any conflicts of interest prior to the activity. Individuals must disclose to participants the existence or non-existence of financial relationships: 1) at the time of the activity or within 12 months prior; and 2) of their spouses/partners.

Geisinger Health System does not view the existence of interests or relationships with commercial entities as implying bias or decreasing the value of a presentation. It is up to participants to determine whether the interests or relationships influence the presenter with regard to exposition or conclusions.

If at any time during this activity you feel that there has been commercial or promotional bias, please inform us by using the commercial bias comments box in the evaluation form. Please answer the questions about balance in the CPD activity evaluation candidly.

The following individuals have reported the following financial relationships:

Michael F. Murray, MD: consulted for InVitae and Merck

The following individuals have reported no financial or other relationships with commercial entities whose products/services may relate to the educational content of this activity:

Alanna Rahm, PhD, CGC: nothing to disclose

Monica Giovanni, MS, CGC: nothing to disclose

Mark Kleman, DO: nothing to disclose

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