{
  "abstract": "PurposeTo describe the development of - and outcomes from - an institution-level initiative supporting access to innovative genetic medicines information and opportunities.\n\nMethodsWe 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.\n\nResultsA 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.\n\nConclusionFindings to date support feasibility and high uptake of a structured, multidisciplinary, medical genetics-led model for assessing patient-level opportunities for genetic medicines.",
  "abstract_shown": true,
  "affiliations": [
    "The Hospital for Sick Children"
  ],
  "article_type": "PUBLISHAHEADOFPRINT",
  "arxiv": null,
  "author_total": 22,
  "authors": [
    {
      "name": "D. Cheerie"
    },
    {
      "name": "A. Y. Pan"
    },
    {
      "name": "M. Acker"
    },
    {
      "name": "K. Amburgey"
    },
    {
      "name": "J. Sidhu"
    },
    {
      "name": "L. Buckley"
    },
    {
      "name": "H. Gonorazky"
    },
    {
      "name": "N. K. McKinnon"
    },
    {
      "name": "L. McRae"
    },
    {
      "name": "M. S. Reuter"
    },
    {
      "name": "L. Vogt"
    },
    {
      "name": "L. Zahavich"
    },
    {
      "name": "T. Czarny"
    },
    {
      "name": "E. Liston"
    },
    {
      "name": "A. McFadyen"
    },
    {
      "name": "D. A. Morgenstern"
    },
    {
      "name": "B. T. Kalish"
    },
    {
      "name": "M. M. Axford"
    },
    {
      "name": "A. R. Deshwar"
    },
    {
      "name": "Z. Ivakine"
    },
    {
      "name": "J. J. Dowling"
    },
    {
      "affs": [
        0
      ],
      "name": "G. Costain"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/c0z30r7gasmy7.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.09.22.26363712",
  "fulltext_url": "https://www.medrxiv.org/content/10.64898/2026.09.22.26363712v1.full",
  "id": "c0z30r7gasmy7",
  "issns": [],
  "landing_url": "https://www.medrxiv.org/content/10.64898/2026.09.22.26363712v1",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "medrxiv",
      "genetic and genomic medicine"
    ],
    [
      "openalex",
      "1311|Genomics and Rare Diseases"
    ]
  ],
  "openalex": "W7214107556",
  "pdf_url": "https://www.medrxiv.org/content/10.64898/2026.09.22.26363712v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-09-22",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/c0z30r7gasmy7.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:18Z",
      "native_id": "10.64898/2026.09.22.26363712",
      "source": "medrxiv",
      "url": "https://www.medrxiv.org/content/10.64898/2026.09.22.26363712v1"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "medrxiv:genetic and genomic medicine",
      "subfield": "human-genetics"
    }
  ],
  "title": "A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines",
  "title_text": "A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines",
  "type": "preprint",
  "updated_at": "2026-10-30T12:19:18Z",
  "url": "https://research.draconitic.com/paper/c0z30r7gasmy7",
  "venue": "medRxiv",
  "versions": []
}