Convergence Conference I: Biospecimen Standards for Genomic Biomarkers, NGS Analysis
December 8-9, 2014
Montelucia Resort, Scottsdale, AZ
In this Convergence Conference, we propose to rethink the technical, biological, statistical and logistical issues associated with human biospecimen collection, handling, processing, and stabilization that impact the molecular quality, consistency, and biomedical veracity of the samples employed for biomarker development using genomic analysis platforms. Further, we propose to define the critical steps of essential (universal), protocols for tissue and for blood that would assure quality and consistency and, on a practical level, could be widely implemented in medical care settings across the country.
The audacious goal is to make all biospecimens from all patients of uniform quality and fit for the purpose of cutting edge molecular analysis. If achieved, this would revolutionize biomarker development across the board and simultaneously improve the quality of clinical care.
Biospecimens are the staring materials for the vast majority of biomarker measurement. At best, a compromised specimen will lead to biased, incorrect, and irreproducible data. At worst, compromised biospecimens will preclude analysis altogether. The quality of human biospecimens used for research and, ultimately, for patient care will become even more important as we face the reality of drug and diagnostics development in a new era where “omics” offers a panoply of emerging molecular targets.
This conference will bring together experts and thought leaders in the realms of pathology and laboratory medicine, surgery, clinical trials, genomics, proteomics, medical care delivery and reimbursement, biomarker research funding, FDA regulation of devices and drugs, professional medical societies that set and enforce standards of care, and patient advocacy. It will take all of us working together to meet this challenge successfully.
We are looking forward to a creative dialogue and new thinking around the concept of biospecimen quality. Do we agree on the definition of fitness for purpose? What is the scientific data and practical experience that informs the definition of “fitness” for genomic analysis? Is the concept of a universal protocol, one that might not optimize specimens for genomics but one that would be widely implementable and enforceable, too broad? Not specific enough? Is it achievable on a practical level? Who will reimburse effort and expertise required to achieve this? Who will assure compliance? The list goes on – driven in large measure by what we are learning about the molecular basis of selected diseases and the rapidly evolving technical requirements of the analysis platforms.