MINUTES CPIC CONFERENCE CALL DATE: May 3, 2018 TOPIC DISCUSSION/ACTION FOLLOW-UP Housekeeping Attendance will be taken by poll after each conference call. Members will Kelly will send the poll link. Announcements receive an email with a doodle link after each call. Please enter your first and last name and check the box indicating you were in attendance. No action required if you were unable to make the conference call. RYR1/CACNA1S Les Biesecker reviewed the guideline for the use of potent volatile Kelly will send the guideline for CPIC guideline anesthetic agents and succinylcholine in the context of or review once complete. RYR1 CACNA1S genotypes specifically Tables 1 and 2. The authors evaluated the evidence for and variants listed as diagnostic by the EMHG RYR1 CACNA1S (European Malignant Hyperthermia https://www.emhg.org/diagnostic-mutations). ClinGen is currently working to evaluate other variants (over 500) with potential associations to Malignant Hyperthermia and the CPIC guideline will be reevaluated once the work by ClinGen is complete. Members discussed Tables 1 and 2. Specifically, questions were raised about the term “unknown susceptibility” vs susceptibility” for a negative result, with “uncertain discussion to try to harmonize as much as feasible with CPIC standardized terms. CPIC update Kelly gave an update on CPIC (membership, guidelines, website, etc) and Kelly will continue to update CPIC the importance and difficulties of assigning allele function. Slides attached members. with minutes. Members discussed the need for better dissemination of CPIC guidelines.
MINUTES CPIC CONFERENCE CALL DATE: May 3, 2018 TOPIC DISCUSSION/ACTION FOLLOW-UP Housekeeping Announcements Attendance will be taken by poll after each conference call. Members will receive an email with a doodle link after each call. Please enter your first and last name and check the box indicating you were in attendance. No action required if you were unable to make the conference call. Kelly will send the poll link. RYR1/CACNA1S guideline Les Biesecker reviewed the guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes specifically Tables 1 and 2. The authors evaluated the evidence for RYR1 and CACNA1S variants listed as diagnostic by the EMHG (European Malignant Hyperthermia https://www.emhg.org/diagnostic-mutations). ClinGen is currently working to evaluate other variants (over 500) with potential associations to Malignant Hyperthermia and the CPIC guideline will be reevaluated once the work by ClinGen is complete. Members discussed Tables 1 and 2. Specifically, questions were raised about the term “unknown susceptibility” vs “uncertain susceptibility” for a negative result, with discussion to try to harmonize as much as feasible with CPIC standardized terms. Kelly will send the guideline for CPIC review once complete. CPIC update Kelly gave an update on CPIC (membership, guidelines, website, etc) and the importance and difficulties of assigning allele function. Slides attached with minutes. Members discussed the need for better dissemination of CPIC guidelines. Kelly will continue to update CPIC members.