What We Do

Our FDA-approved comprehensive genomic profiling services provide powerful insights to guide efficient, personalised treatment and research decisions at optimal times beneficial to your patients’ journeys.1–8 
Foundation Medicine’s comprehensive genomic profiling approach broadly analyses the tumour genome to detect both novel and known variants in >300 cancer-relevant genes and potentially expand patients’ treatment options.1-7,9–13

How Does It Work?

A leading comprehensive genomic profiling approach

Our services detect both novel and known variants, including all four main classes of genomic alterations, across >300 cancer-relevant genes in a single test.1–7 We leverage next-generation sequencing (NGS) technology to examine regions of the tumour genome that other tests
miss.1–7,12,14–18 In the same test we also report microsatellite instability (MSI)* and tumour
mutational burden (TMB) or blood tumour mutational burden (bTMB)*
alongside a comprehensive set of genes: 1–7

  • MSI informs eligibility for immunotherapies.19–23
  • TMB and bTMB are exploratory genomic signatures that inform eligibility for immunotherapies independently of PD-L1 expression.24–29
  • Comprehensive genomic profiling is the only viable routine clinical option for measuring TMB and bTMB.24–27  

Four main classes of genomic alterations

The Foundation Medicine service reports the four main classes of genomic alterations as well as MSI and TMB

Base

substitutions

The Foundation Medicine service reports the four main classes of genomic alterations as well as MSI and TMB

Insertions

and deletions

The Foundation Medicine service reports the four main classes of genomic alterations as well as MSI and TMB

Copy number

alterations

The Foundation Medicine service reports the four main classes of genomic alterations as well as MSI and TMB

Rearrangements

Biomarkers

The Foundation Medicine service reports the four main classes of genomic alterations as well as MSI and TMB

Tumour mutational burden

The Foundation Medicine service reports the four main classes of genomic alterations as well as MSI and TMB

Microsatellite 

instability

*TMB reported by FoundationOne CDx and FoundationOne Heme. bTMB reported by FoundationOne Liquid CDx. MSI reported by FoundationOne CDx and FoundationOne Heme, MSI-H reported by FoundationOne Liquid CDx. 

Insightful results and reporting

A clear, in-depth report supports clinical decision-making by providing insights on the patient’s genomic profile as well as associated targeted therapies, immunotherapies and relevant clinical trials.30,31 Approved therapies are ranked alphabetically within NCCN therapy categories (for additional information on the NCCN categories please refer to the NCCN Compendium® at www.nccn.org).

Extensively validated 

and continuously updated

The validations of our comprehensive genomic profiling services are published in top-tier peer-reviewed journals, and the services are supported by a large and growing body of clinical evidence.1,3,5,7,32,33

Our continuously growing genomic database currently includes over 400,000 genomic profiles in over 150 common and rare tumour subtypes, helping us to ensure our reporting of clinically-relevant genomic alterations is always up-to-date.34

* TMB reported by FoundationOne CDx and FoundationOne Heme. bTMB reported by FoundationOne Liquid CDx. MSI reported by FoundationOne CDx and FoundationOne Heme, MSI-H reported by FoundationOne Liquid CDx.

bTMB, blood Tumour Mutational Burden; FDA, US Food and Drug Administration; MSI, Microsatellite Instability; NCCN, National Comprehensive Cancer Network; NGS, next-generation sequencing; TMB, Tumour Mutational Burden. 

Results and Reporting

Results and reporting

A clear, in-depth report supports clinical decision-making by providing insights on the patient’s genomic profile as well as associated targeted therapies, immunotherapies and relevant clinical trials.30,31  Approved therapies are ranked alphabetically within NCCN therapy categories (for additional information on the NCCN categories please refer to the NCCN Compendium® at www.nccn.org). Reports vary according to regional differences, e.g. EU reports list EU-approved therapy options to support clinical
decision-making.*


The report also highlights important disease-relevant genes with no reportable alterations identified and genomic alterations associated with potential resistance to therapy to help rule out potentially ineffective treatment.30,31


When using different Foundation Medicine services across the patient journey, consistency of the reports aids comparison of the results.30,31 

*Therapies contained in the EU version of the report may have been approved through a centralised EU procedure or a national procedure in an EU Member State.

For additional information on the NCCN categories please refer to the NCCN Compendium®  (www.nccn.org).

NCCN, National Comprehensive Cancer Network.