Traditionally, medicine has followed a one-drug-for-all patients approach to disease, largely as a result of our poor understanding of pharmacology and disease pathology. Over time, research has helped us to uncover how disease can develop, and new pathways through which it may be treated. To maximise the potential of this understanding, it has become necessary to develop tools that can more accurately and effectively determine the nature of a patient’s illness.

To this end, researchers have established the novel field of molecular diagnostics. These are techniques that are capable of analysing biological markers within the genome or proteome to guide diagnoses, prognoses, or treatment plans for patients with unexplained illnesses.

This report outlines the different forms of molecular diagnostics that are currently available and when they might be applicable within a clinical setting, as well as the potential hurdles faced when developing new tests. To demonstrate different challenges being faced, this report contains articles from a number of experts within the field:

  • Federico Goodsaid, Regulatory Affairs Consultant at Opus Three LLC
  • Hestla Mellert, Director of Development, and Gary Pestano, Vice President of Development and Operations at Biodesix, Inc
  • Junaid Shabbeer, Senior CLIA Laboratory Director at Roche Sequencing Solutions
  • Elaine Lyon, Director of Clinical Molecular Genetics at ACMG

With this report, you will learn about:

  • How traditional diagnostic techniques work and the advantages and disadvantages each of the most commonly used methods.
  • How biomarker testing has evolved from a one-gene-one drug approach to personalised testing and treatments.
  • What the primary challenges for liquid biopsy testing are and how they are being overcome for non-small cell lung cancer testing.
  • The current technology available for next-generation sequencing and the challenges faced when trying to bring that technology into a clinical environment.
  • What the current environment for regulation and reimbursement looks like for these types of tests and how the system may need to adapt in future to the nature of NGS testing.