What is a biobank?
A biobank is a type of storage for biospecimens (such as blood, organs, and urine) used for various research projects, utilized by non-profit organizations and private biotech companies. Once the DNA, RNA, or proteins have been extracted and isolated from the specimens, the biological components are processed to obtain sequencing data. Research studies will utilize the sequencing data in different ways, such as returning the results to the individual for discussion with a genetic counselor or submitting the de-identified sequencing data (so the genetic information cannot be traced back to the individual) to private or public databases.
The benefits of biobanks
Biobanks have been established across the world to address many diseases and ailments by recruiting individuals of specific populations of the same geographic location, race, age, sex, medical diagnoses, ancestry, and so on. Both healthy patients and patients with diseases of interest volunteer to enter these cohorts to provide a comparative view of what “normal” patients look like as opposed to what affected individuals with particular diseases look like. Presently, the larger, well-established biobanks with vast amounts of sequencing data are biased toward the white middle-aged population, which is clearly a limited view of the world’s population. More biobanks are being developed and are recruiting globally to focus on patient diversity to better address genetic diseases that may not manifest similarly between populations.
In the time of COVID-19, biobanks have been leveraged to study the genetics of various populations to better understand who is most vulnerable to the virus and how we can prevent and treat future coronavirus infections. In a study conducted with United Kingdom (UK) Biobank data (~500,000 patients from the UK with sequencing data), a significant association was discovered between those who have nonallergic asthma and these people developing severe COVID-19 symptoms if the disease is contracted.
Biobanks are the foundation of different types of organizations. Commercial companies such as 23andMe utilize an individual’s sequencing data to inform the customer of their ancestry and/or their genetic health and associated risks. These companies will link customers to genetic counselors if further explanation of the results is needed. Non-profit organizations like All of Us or Partners Biobank will store your sequencing data in a repository that is accessible to principal investigators who require the sequencing data for their specific research projects. For example, these projects could center around a disease like rheumatoid arthritis (RA), and the data needed by these investigators from the biobank could be patients at risk of RA based on sequencing data or as a healthy volunteer within the same age bracket. As another example, pharmaceutical and biotech companies also partner with biobanks to conduct thorough genetic research for drug targets or for identifying a target patient population. Access to biobanks has become an important tool for companies developing therapies, especially on rare diseases, where access to these patients may be limited.
How to participate in biobanks
Participating in a biobank is very simple. This generally requires consent forms to be filled out and proper explanations of what the sample collection may involve, what sort of data will be produced from your sample, and who is or is not allowed to see your data. Procedurally, a few vials of blood may be taken by a phlebotomist and the contents may need to be shipped back to the company from where the specimen kit came. Attributes such as height, weight, blood pressure, family history, and weekly exercise may also be measured and noted. Organizations such as All of Us will continually send out questionnaires, which track changes both in physical and mental health status, but no further sample collection may be needed (unless you have allowed for the researchers to contact you for further studies). If swayed to participate in biobanks, there are several nationally and locally that are openly recruiting. Agreeing to be part of this movement could not only impact your health directly, but will afford tremendous opportunity to the data science, medical, and patient communities around the world.
References
- NPR: Lack Of Diversity In Genetic Databases Hampers Research
- Doctorpedia: How Does Genomics Impact COVID-19 Severity?
- NIH: A Brief Guide to Genomics
- Doctorpedia: Asthma & Higher Risk of Severe COVID-19
- Regeneron Partners With AbbVie, Alnylam, AstraZeneca, Biogen, Pfizer to Sequence UK Biobank Samples
- All of Us
Mollie Plekan
Author
Mollie is an associate research scientist at Alnylam Pharmaceuticals working in the Next Generation Sequencing team. Recently, she has taken on a role in Alnylam's Translational Genomics Center, conducting data analysis to characterize genetic mutations for disease targets of interest. In addition to her primary job functions, Mollie also volunteers her time at non-profit organizations for fundraising events, educating students on STEM topics, and supporting underprivileged families in care centers.
Pracha Eamranond, MD
Chief Medical Officer, Doctorpedia
Dr. Pracha Eamranond has been a chief medical officer in small and large healthcare organizations focusing on patient experience and education. He currently teaches at Harvard Medical School and cares for patients with complex medical and psychosocial issues at Brigham and Women's Hospital. He has been invited to speak at national and international conferences on patient and physician experience as they navigate medical information via online resources. He has been an editor for UpToDate, principally managing primary care and hospital medicine.
