Ever since the first human genome was sequenced, the expectation has been that biobanking would be one of the critical cornerstones that enables the revolution in the practice of medicine–precision medicine. Biobanks provide critical research and infrastructure support for the realization of clinical genetics and precision medicine. But there have been barriers such as the availability of high-quality specimens with phenotypic data and the robust and timely validation of predictive genetic markers.

A biobank is a structured collection of biological specimens such as blood or cancer tumor samples, healthy control samples, and health information of participants. The specimens and data must be approved for use by a human subjects review panel and include written, informed consent to ensure the trust of the participants. Since most genetic variants are likely to have only a small or modest impact, biobanks must be sufficiently large.

Biobanks can be categorized into different types – some of the most useful biobanks are those based on a specific phenotype, or group of phenotypes. They include:

• Virtual biobanks integrate epidemiological cohorts into a common pool and can be accessed via specialized software or web portals. The samples are stored in a decentralized manner. Example: UK Prostate Cancer Sample Collection Database.
• Tissue banks harvest and store human tissues for transplantation and research. As biobanks become more established, it is expected that tissue banks will merge with biobanks. Example: American Association of Tissue Banks (AATB).
• Cohort biobanks store biomaterial as well as associated characteristics such as lifestyle, clinical, and environmental data. Example: All of Us Research Program Biobank.

Challenges associated with biobanking:

1. Developing infrastructure that supports long-term sample management and tracking, and controlled data & sample access.
2. Extracting knowledge from noise via sophisticated data analysis.
3. Effectively addressing policy and privacy concerns for research participants for ongoing and future studies.
4. Implementing a governance process that is public, yet supports ethical oversight from an independent reviewer.

Overcoming these challenges to building biobanks for the future is critical for precision medicine. Studies utilizing biobanks can effectively support discovery and validation of genetic associations that can lead to new drug development and diagnostic tests that will improve patient outcomes.

• All of Us Research Program – Dr. Eric Dishman, Director, All of Us Research Program, NIH, will provide an update on the progress of the All of Us Research Program and building this cohort biobank toward its ambitious goals of disease prevention, diagnosis, and treatment.
• Million Veteran Program (MVP):
  • Dr. Sumitra Muralidhar, Director, Million Veteran Program, Department of Veterans Affairs will present the world’s largest biobanks and databases of genomic, clinical, lifestyle and military exposure information.
  • Dr. Cuiping Pan, R&D Manager, VA Palo Alto Health Care System will discuss how to build computational solutions to process and analyze tens of thousands of exomes and genomes.
• deCODE genetics – Dr. Kari Steffanson, CEO, deCODE genetics, will address how genomic discovery has fueled major advances in medicine and drug development spanning rare diseases, cancer and broader precision medicine initiatives. deCODE genetics built the first population-wide genomic biobank by collecting data from the entire population of Iceland.
• Kaiser Permanent Research Biobank – Dr. Naneen Aziz, Exec. Director, Kaiser Permanente Research Bank, Kaiser Permanente will focus on the vital role of biobanks for precision medicine while describing infrastructure-specific advancements for biobanks.