Referring Providers

Study Objectives

1. Establish the utility of next generation sequencing (NGS)-based analyses, compared to conventional molecular diagnostics, for the routine management of oncology patients in the following areas:

   1. Patient Diagnostics and Monitoring:

      1. Enable comprehensive diagnoses using somatic mutations in cancer cells.

      2. Identify genetically at-risk patients who were not previously suspected of a cancer predisposition.

      3. Assess response to treatment: provide a molecularly-based understanding of response and resistance to treatment, with consideration of tumour heterogeneity and detection of drug-resistant clones.

      4. Enable disease monitoring using specific alterations identified by the baseline genomics profile at diagnosis, throughout treatment, and after treatment completion (to detect relapse).

   2. Guiding therapeutic decisions: suggest new targets for therapeutic intervention based on tumour-specific genetic alterations.

2. Establish the value of NGS in characterizing and managing metastatic and relapsed disease.

   1. Detect differences in the molecular architecture of primary versus metastatic or relapsed sites of disease.

   2. Determine the incidence of unique drug targets in metastatic or relapsed sites of disease and the utility of this information in personalizing cancer therapy.

3. Establish the value of NGS in identifying germline genetic alterations in individuals highly suspicious for having a cancer susceptibility syndrome.

Referring Your Patient

Internal referrals (patients who are already being cared for by providers at SickKids) can be placed by submitting a REDCap form. Referrals from outside providers are reviewed after completion of an emailed form. Please contact kics.program@sickkids.ca for the appropriate referral information.

Patients and their families are introduced to this study by a member of their clinical team (for example: referring oncologist). They will then be connected with a member of the KiCS team (genetic counsellor), who will review the study in more detail. The majority of consent discussions will occur in person; however, for patients and families in circumstances that prevent timely face-to-face consent, the consent discussion will occur over the telephone.

Study Details

We are poised to take advantage of NGS technology, local expertise, and our unique patient population to implement cancer NGS at SickKids. All patients from the Haematology/Oncology and Cancer Genetics Program, as well as non-SickKids patients, will be eligible for this study. Eligible patients will enter the study at one of two possible points:

Entry Point 1: Those with newly diagnosed or relapsed tumours. The NGS-based analyses offered to this population are:

• Targeted testing: sequencing of tumour and germline samples using a broad cancer gene panel.

• Comprehensive testing: whole genome and transcriptome sequencing of tumour and germline samples.

Entry Point 2: Those suspected of a cancer predisposition syndrome, but who currently do not have a cancer diagnosis (or for whom no tumour tissue is available). The NGS-based analyses offered to this population are:

• Targeted testing: sequencing of a germline sample using a broad cancer gene panel.

• Comprehensive testing: whole genome sequencing of a germline sample.

Next Steps

After the NGS analyses have been completed, results will be reviewed by the molecular tumour board. This group includes SickKids oncologists, bioinformaticians, genomic analysts, geneticists, genetic counsellors, and pathologists. Additionally, referring providers are invited to participate in the meeting.

Actionable findings in the somatic sample will be returned by the patient’s oncology clinical care team.

Actionable findings in the germline sample will be returned by the patient’s genetics clinical care team. If the family has not been connected with genetics providers, the program genetic counsellor organize the appropriate referrals.