Josiah Allen: When is a hereditary disease gene not a hereditary disease gene?
Jaime Grund, Director of Precision Medicine and Genomic Health at St. Elizabeth Healthcare, shared a post by Genomic Pharmacist at St. Elizabeth Healthcare, on LinkedIn:
“And this is why I love my job!
At St. Elizabeth Healthcare, our unique model of bringing ‘all things genetic’ under one roof creates a natural synergy between specialists. Put a group of brilliant minds together and they will do brilliant things!!
It’s time to move past functioning in silos and treat the whole person with precision medicine.”
Quoting ‘s post:
“A riddle:
Q: When is a hereditary disease gene not a hereditary disease gene?
A: When it’s a pharmacogenomic gene!
As part of our close collaboration with our genetic counseling team at St. Elizabeth Healthcare, we have the opportunity to review hereditary findings for medication implications. Some cases we’ve identified clinically:
– Patients with neuromuscular disorders (e.g. muscular dystrophy, myotonic dystrophy) are at an increased risk of anesthesia-related complications, including both malignant hyperthermia and succinylcholine-induced hyperkalemia.
– Patients with mutations in the RET gene, causing multiple endocrine neoplasia type 2, have an FDA contraindication for GLP-1 agonists (e.g. Ozempic).
– Patients with Marfan syndrome should not receive fluoroquinolone antibiotics, which increase the risk of aortic dissection.
Many of these associations are not identified in PharmGKB but are clearly identified in consensus statements (e.g. PMID 35971866) or in medication package inserts. GeneReviews also has a section of ‘medications to avoid’ that is useful but not comprehensive.
Jordan Brady, MS, CGC, Benjamin Duong and I will be presenting a poster on these and other findings from a scoping review at the 2024 Clinical Pharmacogenetics Implementation Consortium in June. Over the next 6-12 months, we’ll also be building clinical decision support to alert providers if they are prescribing an inappropriate medication to patients with genetic conditions.
– Genetic counselors, how are you handling medication implications of hereditary results? Who is educating patients about medications to avoid?
– Pharmacists, how are you integrating with clinical genetics colleagues in your system? Who is alerting clinicians about these gene-drug interactions?
– Medical geneticists, how are medication contraindications and warnings getting communicated to other providers in an actionable manner at the point of care?”
Source: Jaime Grund/LinkedIn and /LinkedIn