For Physicians

Study Objectives

 I. Establish the utility of NGS-based analyses, compared to conventional molecular diagnostics, for the routine management of oncology patients in the following areas:

1. Patient Diagnostics and Monitoring: 

a. Enable comprehensive diagnoses using somatic mutations in cancer cells.
b. Identify genetically at-risk patients who were not previously suspected of a cancer predisposition
c. 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.
d. Enable disease monitoring using specific alterations identified by the baseline genomics profile at diagnosis, throughout treatment, and after treatment completion (to detect relapse).  This will be achieved using circulating tumour DNA for solid tumours, and minimal residual disease in leukemia.  This objective is mainly exploratory at is not likely to impact patient care in the 3 year duration of this initial phase of study.

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

II.  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.

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

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Study Details

We are poised to take advantage of this technology, local expertise, and 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.  Two NGS-based analyses will be offered to this population:

  • Targeted Testing: Targeted genome (DNA) and transcriptome (RNA) sequencing (tumour and germline)
  • Comprehensive Testing: Whole genome (DNA) and transcriptome (RNA) sequencing (tumour and germline)

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).  If the child at risk has never had a cancer diagnosis, then an adult relative who has a syndrome-related cancer will be tested as the index case first.  This group will be offered whole exome and whole genome sequencing. 


Patient Recruitment

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