{"id":320,"date":"2023-03-17T20:19:38","date_gmt":"2023-03-17T20:19:38","guid":{"rendered":"https:\/\/bcchrmicro.wpengine.com\/?page_id=320"},"modified":"2026-01-28T23:13:03","modified_gmt":"2026-01-28T23:13:03","slug":"for-clinicians","status":"publish","type":"page","link":"https:\/\/www.bcchr.ca\/thehub\/for-clinicians\/","title":{"rendered":"For Clinicians"},"content":{"rendered":"
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\n\t<\/span>\n\tThe Rare Disease Discovery Hub<\/span><\/a><\/span>News & Events<\/span><\/a><\/span><\/div>\n

For Clinicians<\/h1>

Information for clinicians on referrals.<\/p><\/div>\n

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Benefitting Clinicians<\/h3>

The goal of the Hub is to facilitate more rare disease research at BC Children’s Hospital and BC Women’s Hospital + Health Centre. The Hub is designed to remove many of the barriers for busy clinical investigators by taking care of the Clinical Research Ethics Board (CREB) requirements, much of the enrollment process, sample collection, logistics and tracking, and by providing access to scientists.<\/p>

Eligibility for Phase 1 (Re-analysis of previous genetic testing):<\/h4>
    \n\tPatient presents with a suspected rare disorder<\/li>\n\n\tPrevious investigations have not identified the genetic cause<\/li>\n\n\tParticipants who are capable of giving informed consent or have an authorized third party provide informed consent on the participant\u2019s behalf.<\/li>\n\n\tThe referring care provider understands the responsibility placed on them as the referring physician as described in the\u00a0referral form<\/a>\u00a0as well as any\u00a0guidance documents<\/a>.<\/li>\n<\/ol>

    Eligibility for Phase 2 (Characterization of novel variant by functional assays):<\/h4>
      \n\tCompelling genetic and other evidence for the variant to potentially cause disease<\/li>\n\n\tPotential for significant impact on understanding disease pathogenesis<\/li>\n\n\tProposed molecular mechanism of disease is tractable for study<\/li>\n\n\tThere is an identified \u201cchampion\u201d willing to be assigned responsibility for shepherding the project through to completion. (This may be a graduate student, physician trainee, research team technologist, Investigator, or often the collaborating care provider, for example.)<\/li>\n<\/ol>

      To refer your patient for consideration in our study:<\/h4>

      Complete the\u00a0referral form<\/a>. Phenotype information MUST be completed and a brief clinical summary at the end of the referral form would be appreciated.<\/p>

      Submit the\u00a0referral form<\/a>\u00a0to our central email address:\u00a0discovery.hub@bcchr.ca<\/a>\u00a0along with a brief description of what you are hoping for the Hub team to accomplish for your patient (e.g. reanalysis, segregation, whole genome sequencing, etc). Expect a response confirming receipt of your referral within one week, please follow up if you do not receive this.<\/p>

      Referrals falling under these categories will be FAST-TRACKED and will not require a presentation to our advisory committee:<\/p>