En ledende tilnærming til omfattende genomprofilering

Vår tilnærming

Foundation Medicine gjør en omfattende undersøkelse av kreftgenomet

Foundation Medicine omfattende genomprofilering bruker teknologien med neste generasjons sekvensering (NGS) for å undersøke regioner i kreftgenomet som andre tester kan overse.(1-12) Omfattende genomprofilering påviser fire hovedklasser av genendringer – basesubstitusjoner, insersjoner og delesjoner, kopitallendringer og rearrangementer av gener – i et omfattende sett av kreftrelaterte gener, og rapporterer tumor mutasjonsbyrde (TMB) og mikrosatellittinstabilitet (MSI).*(1-6)

Hva gjør omfattende genomprofilering annerledes?

Multigene hotspot tests risk missing genomic alterations while comprehensive genomic profiling broadly analyses the genome to identify all relevant alterations
Utfyllende rapporter

EU-rapport omfatter EU-godkjente behandlinger for å støtte kliniske beslutninger

Våre tydelige og utfyllende rapporter støtter kliniske beslutninger ved å gi innsikt i pasientens genomprofil samt tilknyttede målrettede behandlinger, immunterapier og relevante kliniske studier. Rapporten retter også søkelyset på viktige sykdomsrelevante gener uten identifiserte endringer og genendringer forbundet med potensiell resistens mot behandling for å utelukke potensielt ineffektiv behandling.(13) Den nye EU-rapporten inneholder behandlinger som er godkjente i EU.
04_comprehensive genomic profiling_03_clear in-depth reports_v2_NOGenendringerKlinisk relevante endringer i analyserte kreftrelaterte generGenomiske signaturerTMB- og MSI-status* kan være til hjelp ved beslutninger om immunterapiKliniske studierRelevante studier som pasienten din kan være kvalifisert for, på grunnlag av geno-profileringen og geografisk plasseringBehandlinger med klinisk fordelGodkjente målrettede behandlinger og im-munterapier for pasientens genendringer og biomarkører FoundationOnCDx is a next-generation sequencing (NGS) based assay that identies genomic findings within hundreds of cancer-related genes.ABOUT THE TESTXXXXXXXXQRF#01 Jan 2018REPORT DATELung adenocarcinomaTUMOR TYPESample, JanePATIENTPATIENTSEX FemaleMEDICAL RECORD # Not GivenDATE OF BIRTH Not GivenDISEASE Lung adenocarcinomaNAME Not GivenPHYSICIANORDERING PHYSICIAN Not GivenPATHOLOGIST Not GivenMEDICAL FACILITY ID Not GivenMEDICAL FACILITY Not Given ADDITIONAL RECIPIENT Not GivenSPECIMENSPECIMEN SITE Not GivenDATE OF COLLECTION Not GivenSPECIMEN RECEIVED Not GivenSPECIMEN ID Not Given SPECIMEN TYPE Not GivenElectronically Signed by Julia A. Elvin, M.D., Ph.D. • Jeffrey S. Ross, M.D., Medical Director • 30 November 2017Foundation Medicine, Inc. • 1-888-988-3639Sample Preparation: 150 Second St., 1st Floor, Cambridge, MA 02141 • CLIA: 22D2027531Sample Analysis: 150 Second St., 1st Floor, Cambridge, MA 02141 • CLIA: 22D2027531 of PAGEGenomic FindingsBiomarker Findings Tumor Mutational Burden - TMB-Intermediate (11 Muts/Mb)Microsatellite status - MS-Stable7 Disease relevant genes with no reportable alterations: KRAS, ALK, BRAF, MET, RET, ERBB2, ROS1EGFR amplification, L858R PTCH1 T416SCDKN2A/B lossRBM10 Q494*TP53 R267PFor a complete list of the genes assayed, please refer to the Appendix.see p. 175 TrialsTHERAPIES WITH CLINICAL BENEFIT(IN OTHER TUMOR TYPE)THERAPIES WITH CLINICAL BENEFIT (IN PATIENT’S TUMOR TYPE)GENOMIC FINDINGSamplification, L858REGFRT416SPTCH1ErlotinibAfatinibAtezolizumabAvelumabNivolumabDurvalumabPembrolizumabNoneGefitinibOsimertinibCetuximabSonidegibLapatinibVismodegibPanitumumabsee p. 164 Trialssee p. 149 TrialsTMB-Intermediate (11 Muts/Mb)Tumor Mutational BurdenTHERAPIES WITH CLINICAL BENEFIT(IN OTHER TUMOR TYPE)THERAPIES WITH CLINICAL BENEFIT (IN PATIENT’S TUMOR TYPE)BIOMARKER FINDINGSNo therapies or clinical trials.MS-StableMicrosatellite statussee Biomarker Findings sectionClinical Trials 18Therapies with Lack of Response 0Therapies with Clinical Benefit14 FoundationOnCDx is a next-generation sequencing (NGS) based assay that identies genomic findings within hundreds of cancer-related genes.ABOUT THE TESTXXXXXXXXQRF#01 Jan 2018REPORT DATELung adenocarcinomaTUMOR TYPESample, JanePATIENTPATIENTSEX FemaleMEDICAL RECORD # Not GivenDATE OF BIRTH Not GivenDISEASE Lung adenocarcinomaNAME Not GivenPHYSICIANORDERING PHYSICIAN Not GivenPATHOLOGIST Not GivenMEDICAL FACILITY ID Not GivenMEDICAL FACILITY Not Given ADDITIONAL RECIPIENT Not GivenSPECIMENSPECIMEN SITE Not GivenDATE OF COLLECTION Not GivenSPECIMEN RECEIVED Not GivenSPECIMEN ID Not Given SPECIMEN TYPE Not GivenElectronically Signed by Julia A. Elvin, M.D., Ph.D. • Jeffrey S. Ross, M.D., Medical Director • 30 November 2017Foundation Medicine, Inc. • 1-888-988-3639Sample Preparation: 150 Second St., 1st Floor, Cambridge, MA 02141 • CLIA: 22D2027531Sample Analysis: 150 Second St., 1st Floor, Cambridge, MA 02141 • CLIA: 22D2027531 of PAGEGenomic FindingsBiomarker Findings Tumor Mutational Burden - TMB-Intermediate (11 Muts/Mb)Microsatellite status - MS-Stable7 Disease relevant genes with no reportable alterations: KRAS, ALK, BRAF, MET, RET, ERBB2, ROS1EGFR amplification, L858R PTCH1 T416SCDKN2A/B lossRBM10 Q494*TP53 R267PFor a complete list of the genes assayed, please refer to the Appendix.see p. 175 TrialsTHERAPIES WITH CLINICAL BENEFIT(IN OTHER TUMOR TYPE)THERAPIES WITH CLINICAL BENEFIT (IN PATIENT’S TUMOR TYPE)GENOMIC FINDINGSamplification, L858REGFRT416SPTCH1ErlotinibAfatinibAtezolizumabAvelumabNivolumabDurvalumabPembrolizumabNoneGefitinibOsimertinibCetuximabSonidegibLapatinibVismodegibPanitumumabsee p. 164 Trialssee p. 149 TrialsTMB-Intermediate (11 Muts/Mb)Tumor Mutational BurdenTHERAPIES WITH CLINICAL BENEFIT(IN OTHER TUMOR TYPE)THERAPIES WITH CLINICAL BENEFIT (IN PATIENT’S TUMOR TYPE)BIOMARKER FINDINGSNo therapies or clinical trials.MS-StableMicrosatellite statussee Biomarker Findings sectionClinical Trials 18Therapies with Lack of Response 0Therapies with Clinical Benefit14For more information regarding biological and clinical signicance, including prognostic, diagnostic, germline, and potential chemosensitivi implications, see the Genomic Findings section.GENOMIC FINDINGS WITH NO REPORTABLE THERAPEUTIC OR CLINICAL TRIALS OPTIONS p. 5lossCDKN2A/Bp. 5Q494*RBM10p. 6R267PTP53 Genomic alterations detected may be associated with activity of certain approved therapies; however, the agents listed in this report may have varied clinical evidence in the patients tumor type. Therapies and the clinical trials listed in this report may not be complete and exhaustive. Neither the therapeutic agents nor the trials identified are ranked in order of potential or predicted efficacy for this patient, nor are they ranked in order of level of evidence for this patients tumor type. This report should be regarded and used as a supplementary source of information and not as the single basis for the making of a therapy decision. All treatment decisions remain the full and final responsibility of the treating physician and physicians should refer to approved prescribing information for all therapies.NOTETherapies contained in this report may have been approved by the US FDA.XXXXXXXXQRF#01 Jan 2018REPORT DATELung adenocarcinomaTUMOR TYPESample, JanePATIENT33421421

Se på et eksempel på rapport:

Validering

Validert og støttet av klinisk dokumentasjon

Våre tjenester er understøttet av en stor og stadig voksende samling av klinisk dokumentasjon med mer enn 200 publikasjoner siden grunnleggingen av Foundation Medicine.(14,15) Valideringen av den omfattende genomprofileringen som Foundation Medicine tilbyr er publisert i høyt rangerte fagfellevurderte tidsskrifter.(4-6)
04_comprehensive genomic profiling_04_validation_v2_NOBasert på vår analytisk og klinisk validerte FDA-godkjente omfattende plattform†16,17SE VALIDERINGValidering publisert iJournal of MolecularDiagnostics 20185SE VALIDERINGValidering publisert iBlood 20166SE VALIDERINGValidering publisert i Nature Biotechnology 20134(forgjenger til FoundationOne CDx)SE VALIDERING

Se validering:

Referanser
  1. FoundationOne®CDx Technical Specifications, 2018. Available at: www.rochefoundationmedicine.com/f1cdxtech (Accessed March 2019).
  2. FoundationOne®Liquid Technical Specifications, 2018. Available at: https://www.foundationmedicine.com/genomic-testing/foundation-one-liquid (Accessed March 2019).
  3. FoundationOne®Heme Technical Specifications, 2017. Available at: www.foundationmedicine.com/genomic-testing/foundation-one-heme (Accessed March 2019).
  4. Frampton GM et al. Nat Biotechnol 2013; 31: 1023–1031.
  5. Clark TA et al. J Mol Diagn 2018; 20: 686–702.
  6. He J et al. Blood 2016; 127: 3004–3014.
  7. Suh JH et al. Oncologist 2016; 21: 684–691.
  8. Chalmers ZR et al. Genome Med 2017; 9: 34.
  9. Rozenblum AB et al. J Thorac Oncol 2017; 12: 258–268.
  10. Schrock AB et al. Clin Cancer Res 2016; 22: 3281–3285.
  11. Ross JS et al. Gynecol Oncol 2013; 130: 554–559.
  12. Hall MJ et al. J Clin Oncol 2016; 34: 1523–1523.
  13. FoundationOne®CDx Sample Report, 2018. Available at: www.rochefoundationmedicine.com/reporting (Accessed March 2019).
  14. A search for “Foundation Medicine”[Affiliation] on the NCBI database resulted in 321 publications, as of October 2018. Available at: https://www.ncbi.nlm.nih.gov/pubmed/term=%E2%80%9CFoundation+Medicine%E2%80%9D%5BAffiliation%5D (Accessed March 2019).
  15. Foundation Medicine Publications. Available at: https://www.foundationmedicine.com/publications (Accessed March 2019).
  16. FoundationOne®CDx FDA Approval, 2017. Available at: https://www.accessdata.fda.gov/cdrh_docs/pdf17/P170019a.pdf (Accessed March 2019).
  17. FoundationOne®CDx clinical validation, 2017. Available at: http://www.foundationmedicine.com/genomic-testing/foundation-one-cdx (Accessed March 2019).