TRIAGE-GS

Towards Reducing Inefficiencies Affecting Genetics Encounters through Genome Sequencing.

About the TRIAGE-GS study:

Many genetic conditions are individually rare, but altogether they are common and affect many Canadian families. When a healthcare provider thinks that their patient’s health and/or developmental concerns might be caused by a genetic condition, they might refer that individual to a Genetics Clinic to try and find a genetic diagnosis. Making the right genetic diagnosis is both important and challenging. It often takes a long time to find a genetic diagnosis, which can be hard for families and their care teams.

The TRIAGE-GS study is a joint study between The Hospital for Sick Children (SickKids) and Children’s Hospital of Eastern Ontario (CHEO). In this study, we will test if performing genome sequencing (a comprehensive genetic test) as soon as a genetic condition is suspected is more effective than usual care, where an individual waits to see a genetics specialist and then typically gets offered more targeted testing. We think a “genome sequencing first” approach might lead to quicker diagnoses, a smoother experience for everyone involved, and higher satisfaction levels. We will measure success by seeing if there are more and faster diagnoses. We will also check in with patients, families, and care teams to see how satisfied they are with the process, and we will assess the financial impact on the healthcare system.

Participants

We hope to recruit 100 families from SickKids and 100 families from CHEO. When possible, we’d like to enroll the individual referred to the clinic and both of their parents.

Inclusion Criteria

You are eligible for the study if you meet all of the following criteria:

  • You are 18 years old or younger
  • Your healthcare provider sent a referral for you to be seen in the Genetics Clinic at SickKids or CHEO, and it was accepted by the clinic within the last week
  • Your healthcare provider made the referral to genetics because they think you might have a genetic condition that hasn’t been diagnosed yet
  • Based on your referral, our research team thinks you would be eligible for genetic testing in the Genetics Clinic.

Exclusion Criteria

You are not eligible for the study if:

  • You have a clinical diagnosis of a genetic condition that we know can only be caused by a small number of genes.
  • You need to be seen in the Genetics Clinic urgently
  • You’ve already had comprehensive genetic testing (genome-wide sequencing or a large panel).
  • You were seen by a genetics doctor within the last two years for the same reason.
  • You don’t have OHIP or another similar health plan.
  • You were referred to the Genetics Clinic only for targeted testing and/or genetic counselling.
  • One of your family members has similar health and/or developmental concerns and is already in this study.
  • You did not return a signed consent form within one week of being approached about the study.

If you agree to participate, you may be asked to:

  • Allow the study team to review your medical records.
  • Have a ~30 minute meeting with a study genetic counsellor to review the option of genome sequencing.
  • Give a blood sample for genome sequencing.
  • Complete 2-5 questionnaires (each one takes less than 20 minutes).

My family is interested – how can we participate?

If you/your child was referred to the Genetics Clinic at either SickKids or CHEO and that referral was accepted within the last 7 days, the study team at your local study site will automatically review the referral to confirm eligibility. If your family is eligible, someone from our team will contact you directly. While we can’t accept self-referrals to the study, please feel free to contact your local study site if you have any questions.