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The CAUSES research clinic: For children and families with undiagnosed disorders

October 01, 2015
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The CAUSES research clinic at BC Children’s Hospital provides genome-wide sequencing for children and their parents who have complex, undiagnosed disorders and are unable to obtain a diagnosis by standard testing.

CAUSES (Clinical Assessment of the Utility of Sequencing and Evaluation as a Service) is a research study to determine the clinical impact of genome-wide sequencing for children in BC with undiagnosed disorders.

The CAUSES research clinic will:

• Test at least 500 children and their parents by 2018 to identify disorders that would previously have gone undiagnosed.

• Provide genetic counselling, interpretation of complex test results, personalized treatment recommendations, and access to improved services for children who receive a diagnosis from genome-wide sequencing.

• Help speed up diagnoses, prevent additional tests, reduce medical complications, and in some cases, save lives.

• Provide many opportunities for discovery and therapeutic research that will benefit patients at BC Children’s Hospital in partnership with the BC Children’s Hospital BioBank (also funded by Mining for Miracles) and other investigators at CFRI, throughout Canada, and around the world.

Information for physicians

Read the steps below and / or review the step-by-step infographic (at right):

  1. The first step is a referral for a genomic consultation from the child’s physician. The consultation determines if genome-wide sequencing at the CAUSES research clinic is the most appropriate next step for the patient.

    Physicians: please review the CAUSES Research Clinic Inclusion and Exclusion Criteria.

  2. Physicians with a pediatric patient with a suspected genetic disorder are asked to complete the following clinical referral form for a genomic consultation: Referral Form for Genomic Consultation. The genomic consultation, a clinical service, involves a review of the child’s medical records. Fax completed forms to 604-875-2839.

    Note: Physicians are asked to speak with the family to let them know a genomic consultation is being requested. Physicians should also confirm that both parents will be available for genomic sequencing, in the event that it is determined to be the most appropriate next step for the patient.

  3. After the consultation, the genomic consultation team sends a letter to referring physicians that recommends the most appropriate genomic follow-up for the patient.

  4. If genome-wide sequencing at the CAUSES research clinic is the best option for the patient, the CAUSES research clinic team sends a fact-sheet to the referring physician to share with the family.

  5. If the family is interested in participating in the CAUSES research clinic, they can contact the CAUSES Genetic Counsellor, Christèle du Souich, at 604-875-2839 to find out more and enrol in the study. Read more about the steps after enrollment: Next steps for children and families interested in participating in the CAUSES research clinic.

Read more

Learn more about the benefit of the CAUSES research clinic for children and their families:

 CAUSES research clinic team:

For any questions related to CAUSES, please contact Dr. Alison M. Elliott, Project Lead at alison.elliott@cw.bc.ca or 604-875-2819.


Mining for Miracles, BC’s mining community’s longstanding fundraising campaign through BC Children’s Hospital Foundation, committed $3-million in 2015/16 towards the development of CAUSES. Genome British Columbia has pledged to match Mining for Miracles’ commitment up to an additional $1-million and CAUSES is seeking opportunities to leverage this partnership to secure additional funding. CAUSES is supported by the Provincial Health Services Authority and the University of British Columbia.