A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines
- 1The Hospital for Sick Children
Abstract
PurposeTo describe the development of - and outcomes from - an institution-level initiative supporting access to innovative genetic medicines information and opportunities.
MethodsWe developed and implemented a Genetic Medicines Patient Assessment Pathway for rare genetic conditions at a large public hospital, with multidisciplinary teams collaborating to evaluate a patients molecular and clinical amenability to experimental and/or to-be-developed genetic medicines (primarily nucleic acid therapeutics). A Genetic Medicines Consult Clinic operating in parallel offered no-cost specialized consultations and counseling to families regarding genetic medicines inquiries and Pathway outcomes. We retrospectively reviewed submissions, decisions, and outcomes over a >2-year period.
ResultsA total of 63 submissions were reviewed in the Patient Assessment Pathway. Most submissions were classified as eligible or potentially eligible for at least one genetic medicines approach (42/63; 67%). Recommendations generated 87 discrete actions, such as outreach to potential collaborators (n = 28), offering participation in existing research studies (n = 23), or referral to the Consult Clinic (n = 19). Two patients have been approved for therapeutic program initiation or clinical trial enrolment.
ConclusionFindings to date support feasibility and high uptake of a structured, multidisciplinary, medical genetics-led model for assessing patient-level opportunities for genetic medicines.
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BibTeX
@misc{cheerie2026generalizable,
title = {{A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines}},
author = {D. Cheerie and A. Y. Pan and M. Acker and K. Amburgey and J. Sidhu and L. Buckley and H. Gonorazky and N. K. McKinnon and L. McRae and M. S. Reuter and L. Vogt and L. Zahavich and T. Czarny and E. Liston and A. McFadyen and D. A. Morgenstern and B. T. Kalish and M. M. Axford and A. R. Deshwar and Z. Ivakine and J. J. Dowling and G. Costain},
howpublished = {medRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.22.26363712},
url = {https://www.medrxiv.org/content/10.64898/2026.09.22.26363712v1},
note = {CC BY-NC-ND},
}
RIS
TY - UNPB
TI - A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines
AU - D. Cheerie
AU - A. Y. Pan
AU - M. Acker
AU - K. Amburgey
AU - J. Sidhu
AU - L. Buckley
AU - H. Gonorazky
AU - N. K. McKinnon
AU - L. McRae
AU - M. S. Reuter
AU - L. Vogt
AU - L. Zahavich
AU - T. Czarny
AU - E. Liston
AU - A. McFadyen
AU - D. A. Morgenstern
AU - B. T. Kalish
AU - M. M. Axford
AU - A. R. Deshwar
AU - Z. Ivakine
AU - J. J. Dowling
AU - G. Costain
PY - 2026
DA - 2026/09/22
PB - medRxiv
DO - 10.64898/2026.09.22.26363712
UR - https://www.medrxiv.org/content/10.64898/2026.09.22.26363712v1
AB - PurposeTo describe the development of - and outcomes from - an institution-level initiative supporting access to innovative genetic medicines information and opportunities. MethodsWe developed and implemented a Genetic Medicines Patient Assessment Pathway for rare genetic conditions at a large public hospital, with multidisciplinary teams collaborating to evaluate a patients molecular and clinical amenability to experimental and/or to-be-developed genetic medicines (primarily nucleic acid therapeutics). A Genetic Medicines Consult Clinic operating in parallel offered no-cost specialized consultations and counseling to families regarding genetic medicines inquiries and Pathway outcomes. We retrospectively reviewed submissions, decisions, and outcomes over a >2-year period. ResultsA total of 63 submissions were reviewed in the Patient Assessment Pathway. Most submissions were classified as eligible or potentially eligible for at least one genetic medicines approach (42/63; 67%). Recommendations generated 87 discrete actions, such as outreach to potential collaborators (n = 28), offering participation in existing research studies (n = 23), or referral to the Consult Clinic (n = 19). Two patients have been approved for therapeutic program initiation or clinical trial enrolment. ConclusionFindings to date support feasibility and high uptake of a structured, multidisciplinary, medical genetics-led model for assessing patient-level opportunities for genetic medicines.
ER -