Symptoms and General Pathology

All Conditions

Neoplasms

Diseases and Abnormalities at or Before Birth

Syndrome

Neoplastic Syndromes, Hereditary

Genetic Diseases, Inborn

All individuals at risk of a hereditary cancer syndrome with or without a known germline mutation from clinical genetic testing.

Raymond Kim, MD

This study will investigate the utility of integrative sequencing of individuals and families at risk of hereditary cancer syndromes and will uncover novel contributors to tumourigenesis. Integrative sequencing refers to:

1. Whole genome sequencing (WGS) of the germline (inherited) genome
2. Whole exome sequencing (WES) or targeted/panel sequencing of tumour(s) (somatic, tumour-specific mutations)
3. DNA methylation (methylome) analysis of tumour(s)
4. RNA sequencing (transcriptome) of tumour(s)

Eligible patients receiving genetic care at Princess Margaret Cancer Centre and the University Health Network may be approached by their genetic counsellor for participation in this study.

Archival tumor tissue, whole blood at baseline for germ-line DNA analysis

Integrative Sequencing In Germline and Hereditary Tumours

University Health Network, Toronto

Potential participants may be identified through the following sources: patients who will undergo or are currently undergoing clinical evaluation in practices such as, but not limited to, hematology-oncology, gastroenterology-hepatology, radiation-oncology and surgery. Participants will be enrolled in the study indefinitely unless a request to withdraw is made.

Participants will be scheduled to review the study specifics, review consent and gather medical information. Once consented, samples will be collected. When the samples are received by Exact Sciences, DNA and RNA will be extracted, and sequencing will be performed. Following pan-genomic testing, participants will receive the full report with results from their care team and results will also be added to the patient's portal. If a germline finding is identified (positive pathogenic variant) the participant will also be referred for a genetic counselor visit. All results from the germline hereditary test will be reviewed by a certified genetic counselor in addition to a review of their pedigree. To help with review of any genetic research findings, the study team may request to obtain genomic data from previous genetic testing (clinical or research based).

Pan-genomic Testing

Clinical Trials Referral Office

Katie M. Gano, M.S.

Jewel J. Samadder, M.D.

Jeremy C. Jones, M.D.

Mrinal S. Patnaik, M.B.B.S.

The purpose of this study is to evaluate the integration of cancer pan-genetic testing into a cancer clinical practice and understand both its use and effect in "real world" practice conditions.

Each participant will have residual/archived tissue and a new blood (or saliva, hair follicle) sample for pan-genomic testing as per standard of care testing. Additional samples (including but not limited to tissue, bone marrow, blood, urine, stool, hair follicles, etc) may be requested/collected to be used for additional genomic and other omics studies.

INTERogating Cancer for Etiology, Prevention and Therapy Navigation

INTERogating Cancer for Etiology, Prevention and Therapy Navigation (INTERCEPTioN)

Genomic sequencing of tumor tissue and blood will be performed to determine genomic alterations in germline and somatic cancer-related genes (SNVs, indels, CNVs from DNA and fusions from RNA) to allow the ordering hematologist/oncologist/provider to determine optimal therapy and clinical trial prospective. Researchers across the field of genomic sequencing report findings about new variations in scientific publications and collect it in databases every day. Consequently, any patient's variant of uncertain significance (VUS) result could be reclassified by emerging findings, turning previously unresolved tests into diagnostic answers. Our Translational Omics Program has a system to re-analyze a patient's exome/genome data against these new genetic findings-reviewing data and comparing it with emerging clinical genetic data to facilitate diagnoses.

Mayo Clinic

Principal Investigator

Rare Diseases

Genetic Predisposition to Disease

Disease Susceptibility

Disease Attributes

Both underage and adult persons (male and female) with diagnostically unsolved rare diseases who have been or are included into diagnostic care at the University Hospital Tübingen, Germany (UKT) and who are suspected of having a genetic cause of the disease.

Study related procedures: Blood sampling, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics).

Blood sampling, short clinical characterization, WGS based sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics).

WGS Diagnostic: Blood take for genetic diagnostic

Olaf Rieß, Prof. Dr.

Andreas Dufke, PD Dr.

The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).

The novelty of this study is to integrate genomic health concepts into immediate clinical care. To achieve these goals, a novel structure for the Triple P (3P) concept of personalized medicine (Personalized, Predictive, Preventive) integrated into a well-established health care system and associated with novel decentralized Disease Analysing Task Forces (DATF) will be implemented.

The overall goal of this study is to implement, for the first time, Whole Genome Sequencing (WGS) analysis as a first line diagnostic test for all clinical indications such as Rare Disease (RD )and familial cancer syndromes.

Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program

The GE-MED APPROACH study will provide data in a pseudonymized manner to national and international databases set up to increase the diagnostic yield through advanced analysis tools and matchmaking against other cohorts

WGS analysis as a first line diagnostic test for all clinical indications

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Integrative Sequencing In Germline and Hereditary Tumours	NCT03857594	Hereditary Canc... High-Risk Mutation Germline Mutati...		18 Years -	University Health Network, Toronto
INTERogating Cancer for Etiology, Prevention and Therapy Navigation	NCT06008392	Cancer Cancer Gene Mut... PAN Gene Mutati...	Pan-genomic Tes...	18 Years -	Mayo Clinic
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program	NCT04760522	Rare Diseases Genetic Predisp...	WGS Diagnostic:...	-	University Hospital Tuebingen
INTERogating Cancer for Etiology, Prevention and Therapy Navigation	NCT06008392	Cancer Cancer Gene Mut... PAN Gene Mutati...	Pan-genomic Tes...	18 Years -	Mayo Clinic

Spots Global Cancer Trial Database for whole exome sequencing (wes)