The Variant-Rich Biobank: An Insider’s Look

In this webinar, Anuj Kalsy provides an overview of Precision for Medicine and their product and service offerings, while Robert Snyder, PhD, discusses the Precision Oncology Sequencing Initiative (Project P.O.S.I.).

• Introduction to Precision for Medicine
• The need for a well-characterized, variant-rich biobank
• Overview of the Project P.O.S.I.
• Genomics and molecular lab sequencing infrastructure

Anuj begins this webinar with a walkthrough of Precision for Medicine’s capabilities as well as an overview of the variant-rich biobank and other services offered. Precision for Medicine is a global contract research organization that supports clients in their biomarker-based research and development opportunities from bench to market. In addition to providing high quality biospecimens, Precision for Medicine is able to support data science and market access needs as well as regulatory strategies. Their vast biorepository contains more than 30 million biospecimens that are managed alongside supporting research activities in seven laboratories worldwide; so far, Precision for Medicine has helped complete more than 500 clinical trials for therapeutics.

“In our experience working with clients, what we have realized is that experimentation reproducibility is a critical problem in the scientific community, and what we have figured is biospecimens are sort of the key to providing a solution to this problem.”

In a 2016 Nature survey, it was reported that more than 70% of researchers tried and failed to reproduce the experiments of another researcher; in a follow-up 2018 survey, that proportion grew to 86%. As a solution to this reproducibility problem, Precision for Medicine offers a high quality biobank containing well-characterized and clinically annotated biospecimens including blood, biofluids, and their derivatives, as well as pathologist-verified tissues, human leukocyte antigen-typed viable cells, and liquid biopsy samples.

Although there are many examples of how Precision for Medicine has helped drive research, Anuj details his personal experience with the company when he was a pharma researcher. In this case, Anuj and his team were dealing with a breast cancer drug discovery problem in which they were attempting to figure out the human epidermal growth factor receptor 2 (HER2) status of a particular sample type; however, having access to tumor samples from HER2-driven breast cancers was rare. The team was able to acquire these samples through Precision for Medicine and obtain a profiling of the HER2 expression pattern in their sample tissue types.

“You can really sort of see how these biospecimens, especially [those] that are well-characterized and annotated, could be a critical research tool to … drive drug discovery forward.”

Next, Robert “connects the dots” and provides an overview of Project P.O.S.I., a novel next-generation sequencing initiative that aims to generate data from real clinical samples rather than contrived specimens to help researchers and therapeutic companies optimize biomarker and companion diagnostic (CDx) development. Tumor tissue blocks are screened at a rate of 800 samples per month across 11 cancer indications; in another phase of the project, liquid biopsy samples collected from approximately 350 donors are also being screened. Robert also highlights the laboratory sequencing infrastructure for this project and provides a personal example of how a well-characterized, variant-rich biobank like the one at Precision for Medicine could have benefited his research when he was working in CDx product development.

“The biggest bottleneck, particularly when running accuracy assays, is samples. … I was just sequencing unscreened samples, as many as I could, and praying to the mutation gods that we would find those rare variants that we needed for our submission. … This was really hard not just technically, but also emotionally because we had so much on the line.”

Lastly, Robert explains that Precision for Medicine is able to conduct an expansive screening initiative through partnerships. For example, Precision for Medicine provides samples, infrastructure, and expertise with wet laboratory work for CDx partners, while they in turn provide hits for Precision for Medicine to use. Through these partnerships, Precision for Medicine has created a library of deeply phenotyped, data-rich samples that researchers can leverage to accelerate the advancement of precision medicine.