![Sample our Medicine, Dentistry, Nursing & Allied Health journals, sign in here to start your FREE access for 14 days]({"type":"image" , "src" : "/sda/5944/TOC-Subject-Sample-2021-Medicine-Dentistry-Nursing-Allied-Health.jpg"})
Abstract
Making precision (personalized) medicine a routine clinical reality will require a comprehensive inventory of validated biomarkers and molecular diagnostic tests to stratify disease subtypes and improve accuracy in diagnosis and treatment selection. Realization of this promise has been hindered by the poor productivity of biomarker identification and validation. This situation reflects deficiencies that are pervasive across the entire spectrum of biomarker R&D, from discovery to clinical validation and in the failure of regulatory and reimbursement policies to accommodate new classes of biomarkers. The launch of the National Biomarker Development Alliance is the culmination of a 2-year review and consultation process involving diverse stakeholders to advance standards, best practices and guidelines to enhance biomarker discovery and validation by adoption of systems-based approaches and trans-sector collaboration between academia, clinical medicine and relevant private and public sector stakeholders.
Financial & competing interests disclosure
G Poste is Vice Chairman of Caris Life Sciences which provides molecular profiling services in oncology. G Poste and AD Barker are members of the scientific advisory board of Caris Life Sciences and receive consultancy payments and stock options for this activity. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.
Validated biomarkers are essential for improved molecular profiling of patients to identify subtypes of disease, improve diagnostic accuracy and treatment selection.
The productivity of current approaches to biomarker discovery is poor. This is reflected in the orders of magnitude asymmetry between the large number of publications claiming putative biomarkers and the small number that enter clinical validation trials and the even smaller group that achieve final regulatory approval and clinical adoption.
This situation can be attributed to both technical and organizational shortcomings. The majority of publications on biomarker discovery are statistically underpowered and fail to report important preanalytical issues related to specimen provenance and biomarker assay protocols.
The anticipated rapid use of whole genome sequencing in clinical care will falter without setting robust quality assurance and regulatory standards to ensure data accuracy.
Failure to adopt stringent standards in biomarker research extends to the lack of community standards for data reporting and exchange, database design and interoperability and the lack of facile methods for longitudinal integration of discovery and clinical development data and the incorporation of molecular profiling data into electronic medical records.
In addition to widespread technical problems, progress in biomarker discovery is handicapped by the current reliance on isolated and fragmented silos of technical specialization versus coherent systems-based approaches that reflect the multidimensional technical, clinical and regulatory complexities required to validate a new generation of multiplex molecular diagnostics and whole genome sequencing. Future success demands integration of multidisciplinary expertise and trans-sector collaboration between academia, clinical medicine regulators, industry, payers and patients.
Formation of the National Biomarker Development Alliance is a culmination of a 2-year review and consultation process involving these diverse stakeholders to define the standards, best practices and guidelines needed for a systems-based approach to progress candidate biomarkers across a series of interconnected process modules with transparent decision points in advancing to the next module.