Biospecimens
Carolyn Compton, MD, PhD
James Robb, MD
Office of Biorepositories and Biospecimen Research (OBBR), NCI
June 25, 2007
Translational Research Promises to Advance Molecular Medicine for Cancer Patients
Biospecimen Distribution Biospecimen Collection
Biospecimen processing and banking
Molecular Data Diagnosis / Therapy
PERSONALIZED CANCER CARE
Biospecimen Processing and Banking
Molecular Research Using Human Analytes
Genomics Proteomics Metabolomics
All DependOn High-Quality
Human Biospecimens
Finding the targets for detection, therapy, prevention
Molecular Research and Analyte Variation
Challenges for translational research using human biospecimens:
• Varying methods of collection, processing, and storage can alter the physical/biologic state of the specimen
• Varying associated specimen data elements alter what the scientist knows about the character/nature of the specimen
• Variable clinical information alters what the scientist knows about the patient (biologic context of the specimen)
• Variable restrictions (patient consent; other ethical, legal, and policy issues) alter what the scientist may do with the specimen and/or data
Molecular Research and Analyte Variation
The lack of standardization of human biospecimens compromises the quality and the utility of molecular research and the advances in clinical medicine dependent on them.
Effects of Biospecimen Variation
– Effects on clinical outcomes:
• Morphological artifact confounding diagnosis
• Skewed clinical chemistry results
• Potential for incorrect therapy when a therapy is linked to a diagnostic test on a biospecimen (e.g., HER2 in breast cancer)
– Effects on research outcomes:
• Variations in gene expression data
• Variations in post-translational modification data
• Potential for misinterpretation of artefacts as biomarkers
Goals of NCI’s Strategic Efforts
– Prepare for post-genomic changes in requirements
and needs for biospecimens and biorepositories
– Optimize and standardize the quality of human
specimens for the research that will drive
personalized cancer medicine
– Ultimately remove barriers to cancer research
represented by limited availability of high-quality
human specimens
Guiding Principles of the National Biospecimen Network (NBN) Concept
• Premise: Standardizing biospecimen resources according to best practices will increase the quality of human biospecimens for translational research
• Principles of a quality virtual banking system/network
– Common, best practice-based operational procedures
– Common consent forms
– Common material transfer agreements
– Common data elements collected
– Common vocabularies used
– Interoperable information systems
– Harmonized approaches to ethical and privacy issues
NCI Best Practices for Biospecimen Resources
Objective:
Provide a baseline for operating standards on which to build as the state of the science evolves
Unify policies and procedures for biospecimen resources supported by the NCI or used by NCI-supported investigators
Based on state of the science as defined by 3 years of due diligence
Accepted by National Cancer Advisory Board, June 2007
NCI Best Practices for Biospecimen Resources
• Operational best practices for research biorepositories
• Quality assurance and quality control programs
• Implementation of enabling informatics systems
• Establishing reportingmechanisms
• Providing administration and management structure
• Ethical, legal, and policy issues
• Informed consent
• Access to specimens and data
• Privacy protection – HIPAA
• Ownership/custodianship
• Intellectual property
Includes recommendations and guidelines for:
NCCCP Biospecimens: Approach
• Define key issues for BIOSPEC component at each site and network:– What the NCI wants - based on National Biospecimen Network concept and
incorporating the NCI Best Practices for Biospecimen Resources• Site-appropriate: based upon resources, staff and structures• Guided by common principles and practices
– What you have - key elements in place at each site– What you need – to achieve the desired outcome
• Create a realistic “Gap Matrix” for each site/network
• Include all appropriate site stakeholders, from the beginning and in all phases of the pilot:
– CEO/CFO, other administrators– Surgeons– Pathologists– Nursing– Support staff (path assistants, IT support, lab personnel)– Tumor registrars– Patient advocates– Others
Key Issues for BIOSPECs
Site-appropriate biospecimen resource designAdherence to common principles
Impact on existing clinical systems and personnel Interface with clinical servicesMentoring; education; training
Annotation standardization Informatics systems installation/retro-fitting
Key linkages: lab, path, radiology, med record, tumor registry
Ethical, legal, policy harmonization Consents MTAs Institution/state-specific policy/law
Biospecimen Resources: Process
• Step One: Data gathering and education– Assess current status against implementation requirements for NCI Best
practices– Educate and orient stakeholders at each site
• Step Two: Assessing requirements to fill gaps– Implications– Barriers– Costs– Necessary procedures and processes– Relevant infrastructure, including IT– Necessary personnel
• Step Three: Assessing harmonization requirements– Requirements to harmonize across networks/sites– Implications, barriers, costs, etc.
• Steps Within and Beyond…….? Implementation
BIOSPEC Checklist: Defining the Baseline
Objective:
• To provide NCCCP with a common approach for assessing and addressing the elements required for quality biobanking
Method
• The NCI Best Practices provided a framework and served as the primary source of quality indicators and assessment criteria
Definition:
• A biospecimen resource is the physical plant, the specimen collection, the associated data, and all relevant procedures and policies
BIOSPEC Toolkit
• NCI Best Practices for Biospecimen Resources
• Baseline assessment checklist
• caBIG™ for Dummies
• Patient brochure on biospecimen donation
• Best Practices Road Show: national education and outreach effort– Regional meetings – Fall 2007
• Boston, MA• Chicago, IL• Houston, TX• Los Angeles, CA• Seattle, WA
• Office of Biorepositories and Biospecimen Research (http://biospecimens.cancer.gov)