Benefitting Clinicians

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.

Eligibility for Phase 1 (Re-analysis of previous genetic testing):

  1. Patient presents with a suspected rare disorder
  2. Previous investigations have not identified the genetic cause
  3. Participants who are capable of giving informed consent or have an authorized third party provide informed consent on the participant’s behalf.
  4. The referring care provider understands the responsibility placed on them as the referring physician as described in the referral form as well as any guidance documents.

Eligibility for Phase 2 (Characterization of novel variant by functional assays):

  1. Compelling genetic and other evidence for the variant to potentially cause disease
  2. Potential for significant impact on understanding disease pathogenesis
  3. Proposed molecular mechanism of disease is tractable for study
  4. There is an identified “champion” 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.)

To refer your patient for consideration in our study:

Complete the referral form. Phenotype information MUST be completed and a brief clinical summary at the end of the referral form would be appreciated.

Submit the referral form to our central email address: discovery.hub@bcchr.ca along 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.

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

  • Reanalysis of existing data from commercial, provincial, or research labs
  • Segregation via Sanger
  • Splicing analysis via RNA-seq

Referrals requesting additional NGS, other assays, or involvement of external research collaborators will likely be brought to our advisory committee for approval. You will be asked to prepare a brief proposal in the form of a presentation to our regularly scheduled advisory committee meetings (approximately quarterly depending on need).