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How do we realise the potential of precision medicine?

Precision medicine

The shift towards precision medicine

Clinical practice is shifting towards an era of precision medicine where molecular insights enable treatment to be personalised to the unique genomic profile of a patient’s tumour.1–3 Cancer care is increasingly complex as more targetable genes are identified and treatment choice grows;4–8 in 2018, there were over 849 molecules in late-stage development, 91% of which were targeted treatments.9 An evolving approach to clinical diagnostics and decision-making is required if we are to manage this increasing complexity and realise the potential of precision medicine.4,10

Organ Based Biomarker Stratied Precision Medicine Chemotherapy Cancer is treated primarily according to its location in the body Personalised Treatment Molecular insights enable treatment to be personalised to the unique genomic profile  of a patients tumour Targeted Medicines Cancer therapy is selected based on both organ and biomarker 1990 2000 2010 2020 2030 1980
Genomic insights

Capturing clinically relevant genomic insights

There are four main classes of genomic alterations: base substitutions, insertions or deletions, copy number alterations and gene rearrangements. But are current diagnostic approaches up to the task of identifying them all? Single biomarker tests, using common diagnostic techniques such as PCR/IHC/FISH, and multigene hotspot NGS tests risk missing genomic alterations that may be critical to patients’ treatment plans.4,11–13

Furthermore, complex pan-tumour genomic signatures, such as Tumour Mutational Burden (TMB), blood Tumour Mutational Burden (bTMB) and Microsatellite Instability (MSI), may provide further valuable insights to help personalise treatment plans. MSI informs eligibility for immunotherapy and is a cancer guideline-recommended signature.14-18 TMB and bTMB are exploratory genomic signatures that inform eligibility for immunotherapies independently of PD-Ll expression.19-24 Comprehensive genomic profiling is the only viable routine clinical option for measuring TMB and bTMB.19-22

MSITMB/bTMBBase substitutionsTumour Mutational Burden/blood Tumour Mutational Burden*Microsatellite Instability*RearrangementsFour main classes of genomic alterations12 12 34Genomic signatures

*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.
Evolving approach

An evolution in diagnostics and clinical decision-making

Ensuring that cancer patients can benefit from the latest treatment innovations requires an evolving approach to clinical diagnostics and decision-making, one that:

✓   Identifies clinically relevant genomic alterations and signatures

✓   Provides clinical decision-making support

✓   Personalises patients’ treatment plans

Comprehensive genomic profiling is important to ensure patients can benefit from the latest treatment innovations.1,10,20

"The NCCN NSCLC Guidelines panel strongly advises broader molecular profiling with the goal of identifying rare driver mutations for which effective drugs may already be available, or to appropriately counsel patients regarding the availability of clinical trials. Broad molecular profiling is a key component of the improvement of care of patients with NSCLC."

NCCN Guidelines for NSCLC Version 6, 202025

“Multiplexed genetic sequencing panels are preferred where available over multiple single gene tests to identify other treatment options beyond EGFR, ALK, BRAF and ROS1.”

ASCO endorsement of CAP/IASLC/AMP guidelines for lung cancer, 201826,27

AMP, Association for Molecular Pathology; ASCO, American Society of Clinical Oncology; bTMB, blood Tumour Mutational Burden; CAP, College of American Pathologists: FISH, fluorescence in situ hybridisation: IASLC, International Association for the Study of Lung Cancer; IHC, immunohistochemistry; MSI, Microsatellite Instability; NCCN, National Comprehensive Cancer Network; NGS, next generation sequencing; NSCLC, non-small cell lung cancer: PCR. polymerase chain reaction; TMB, Tumour Mutational Burden.
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  2. Schwaederle M, Kurzrock R. Oncoscience 2015; 2: 779–780.
  3. Mansinho A et al. Expert Rev Anticancer Ther 2017; 17: 563–565.
  4. Frampton GM et al. Nat Biotechnol 2013; 31: 1023–1031.
  5. Drilon A et al. Clin Cancer Res 2015; 21: 3631–3639.
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  7. Baumgart M. Am J Hematol Oncol 2015; 11: 10–13.
  8. Chakravarty D et al. JCO Precis Oncol 2017; doi: 10.1200/PO.17.00011. 
  9. Global Oncology Trends Report 2018. Report by IQVIA Institute for Human Data Science. Available at: (Accessed March 2019).
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  12. Rankin A et al. Oncologist 2016; 21: 1306–1314.
  13. Suh JH et al. Oncologist 2016; 21: 684–691.
  14. Zhao P et al. J Hematol Oncol 2019; 12: 54.
  15. Abida W et al. JAMA Oncol 2019; 5: 471–478.
  16. Kok M et al. ESMO Open 2019; 4(Suppl 2): e000511.
  17. NCCN Clinical Practice Guidelines in Oncology. Prostate Cancer. Version 2.2020, May 2020. Available at: (Accessed August 2020).
  18. FDA approves pembrolizumab for first-line treatment of MSI-H/dMMR colorectal cancer. Available at: (Accessed August 2020).
  19. FDA approves pembrolizumab for adults and children with TMB-H solid tumors, 2020. Available at: (Accessed August 2020).
  20. Gandara DR et alNat Med 2018; 24: 1441–1448.
  21. Yarchoan M et al. JCI Insight 2019; 4: e126908.
  22. Marabelle A et al. Ann Oncol. 2019;30(suppl_5):v475-v532.
  23. Socinski M. Ann Oncol 2019; 30(suppl_5): v851–v934.
  24. Khagi Y et al. Clin Cancer Res 2017; 23: 5729–5736.
  25. NCCN Clinical Practice Guidelines in Oncology. Non-Small Cell Lung Cancer. Version 6.2020, June 2020. Available at: (Accessed August 2020).
  26. Kalemkerian GP et al. J Clin Oncol 2018; 36: 911–919.
  27. Lindeman NI et al. J Mol Diagn 2018; 20: 129–159.