Biobanking and Genomics Research

Wilfredo Marin, MS, is a senior product application specialist with Thermo Fisher Scientific, where he provides biobanking and cryopreservation expertise to colleagues and customers. Wilfredo has innovative workflow solutions that utilize high-quality biospecimens at the highest levels of investigation. During his previous 15 years in academic research laboratories, he has contributed to projects investigating sleep neuroanatomy, genome editing in animal models, pediatric cancer stem cells, and managed a rare disease biobank. He has authored several publications and plans to continue sharing his love of science through various social media connections. Wilfredo holds an MS in biological sciences from Stanford University.

How do biobanks facilitate genomics research and collaboration?

Biobanks are inherently set up to support discovery in hospitals or institutional settings. Biobanks collect, process, and store specimens as tissue collections. Many also have dedicated projects to help bridge basic science to translational research—and hopefully therapies. These projects can be disease- or population-based, and the stored specimens can be used for genetic analysis. Biobanks facilitate collaboration by providing greater access to high-quality, well-annotated samples. They also provide access to samples that may otherwise be very difficult for researchers to obtain, such as those associated with a particular disease or geographic region. 

Why is sample donor demographic information important for genomics studies?

I have often heard that a sample without accompanying demographic information is essentially worthless. This may seem extreme, but it is really an honest assessment. Most biobanks require only the basic de-identified information for analysis: age, gender, and ethnicity.  As genomic studies continue to progress additional power from both numbers and details can contribute to greater insights. Well-surveyed notes from the donor, including basic medical history, health status, diet, and lifestyle information, add much more value to the sample. This information amplifies discovery because researchers are able to identify stronger correlations within the data. Pairing detailed clinical and demographic data with longitudinal sample collections also supports more in-depth insights. 

What are some new developments in cryopreservation and cold storage technologies that help to maintain sample integrity?

The ultra-low temperature (ULT) freezer is one of the most important pieces of equipment in a biobank. A reliable ULT with remote monitoring ensures minimal variation in long-term storage conditions. Part of modernizing biobanking is prioritizing more energy-efficient ULT technologies. The TSX series, for example, has the My Green Labs Accountability, Consistency, and Transparency (ACT) label. 

Cryopreservation is also a very important science, and as cellular therapies are more widely adopted, more labs and companies are looking to preserve and store their samples. This needs to be done reliably, and I have worked with customers to develop and optimize new control-rate freezing protocols with the CryoMed. 

What are some of the most important variables to control prior to analysis?

Patients are always the top priority, and their schedules and circumstances can change. As a result, there is some unpredictability in when samples are obtained—whether via blood draw or during surgery. In my previous role as a lab manager, I emphasized consistency and ensured we followed a standardized protocol for sample processing from the moment the samples arrived at the biobank. This encompassed different sample types, handling conditions, fixation, centrifugation speeds, aliquot volumes, storage containers, and temperature, among other factors. This added time to the workflows, but gave us more confidence in our samples. 

Are there any emerging techniques or technologies that you believe will have a significant impact on biobanking or genomics research in the future?

I am very confident that technologies are improving—they are becoming faster, and more affordable, efficient, and accessible. Beyond genomics, biobanks are starting to work with other -omics, such as metabolomics and proteomics, which are big contributors to precision medicine. With proteomics specifically, biobanks can examine biomarkers that serve as predictors of disease, as well as—in the context of pharmacogenomics—targets that respond to drugs. There is also interest in mesenchymal stem cells, induced pluripotent stem cells, and for oncology, circulating tumor DNA.

To learn more about Thermo Fisher Scientific solutions for biobanking, visit the Biobanking Learning Center, or watch the Biobanking Modernization & Sustainability webinar presented by Wilfredo Marin.