Fig. 1

Consensus ‘roadmap’ for the development and implementation of molecular diagnostic tests (key: CD = companion diagnostic, IP = intellectual property). (1) Identify need—researchers define a clinical scenario that would benefit from improved diagnostic capabilities or there is a specific need for a companion diagnostic test in parallel to drug development; (2) early discovery and proof of concept— preclinical studies to develop scientific basis of new discovery (we acknowledge that in some cases, this may precede the previous step with clinical relevance only emerging after the initial scientific discovery); (3) testing and validation—further testing, possibly in preparation for human trials (discussed in greater detail by Mattocks and colleagues);³¹ (4) formal consultation on regulatory approval and intellectual property—we recommend discussions with the relevant regulatory bodies and technology transfer offices at an early stage in test development (e.g., the United Kingdom Accreditation Service [UKAS] and the Medicines and Healthcare products Regulatory Agency [MHRA]’s Innovation Office),³² to ensure that the correct procedures are being followed and that intellectual property is protected (N.B. must also consider the need for Research Ethics Committee [REC] and Human Tissue Authority [HTA] approval, which is required for testing on human tissue samples); (5) identification of position in patient care pathway—before clinical trials are conducted, it is essential to identify where a new test will fit within the current or redesigned patient care pathway, not just within the United Kingdom but also other countries, especially Europe and the United States of America; (6) clinical trial (conducted according to ethical and regulatory frameworks) and clinical outcome data—a formal clinical trial demonstrating equivalence/superiority to the current ‘gold standard’ diagnostic test may be required; (7) regulatory approval—evidence from proof-of-concept studies and clinical trials will be required to gain relevant regulatory approval (Conformité Européenne marking of In Vitro Diagnostics [CE IVD] in Europe by Notified Bodies and the Food and Drug Administration [FDA] in the United Stated of America); (8) commercialisation and commissioning—after regulatory approval has been granted, the new diagnostic test requires marketing and must be deemed to provide clinical benefit and be cost-effective (i.e. by the National Institute for Health and Care Excellence [NICE]) before it will be commissioned for clinical use within the National Health Service [NHS]; (9) implementation—the new test is implemented in clinical practice; (10) quality control—rigorous quality control and post-marketing surveillance is required to ensure ongoing, high-quality test performance (e.g., in the UK, laboratory accreditation is regulated by UKAS and external assessment is conducted by International Organization for Standardization [ISO] 17043 accredited external quality assurance providers [listed at http://www.eptis.org];³³ in the specialty of histopathology, this is most commonly undertaken by the United Kingdom National External Quality Assessment Service [UK NEQAS]); (11) monitor uptake and outcomes—it is important to monitor nationwide uptake of new molecular diagnostic tests and to provide firm evidence that the tests provide clinical and/or economic benefit; (12) review technology—ongoing review of the technology, identifying areas for further development/optimisation is essential