February 08, 2024
In 2009, Time Magazine predicted that Biobanks would be among the top ten technologies to change the world. But what exactly are they?
What are Biobanks and Why do they Matter?
As Time Magazine put it, a biobank is like an “organic bank account” that collects and stores biological samples, such as tissue and blood, as well as health data, lifestyle information and medication details – creating a genomic database. The collected biomaterial and health data are like a bank deposit. Researchers then use biobanks to access samples, collect data and conduct studies generating a type of interest from these accounts in the form of new discoveries, treatments or therapies.
Biobanks can provide population-level information about things like disease risk, genetic variants and response to drugs, making them critical contributors of data to research studies that help to establish medical standards. Concerns have emerged about the representativeness of samples and the lack of diversity in the donor pool. Biobanks with high-quality samples that capture the range of demographics within a population are vital for advancing patient care because if biobanks lack diverse representation, it hinders our understanding of how different groups may react to medications and treatments.
The Tragic Consequences of an Oversight
In November 2023, a CBC article highlighted a heartbreaking incident involving a Canadian doctor of South Asian descent who tragically lost his life after using Fluorouracil (5-FU), a drug commonly prescribed for colon cancer treatment. Despite its effectiveness in extending lives by targeting rapidly dividing cells, 5-FU has a history of deadly adverse drug reactions.
Pre-screening before cancer treatment aims to prevent adverse reactions to these drugs. But what happens when this screening overlooks potential genetic risks?
The doctor was prescreened for genetic variants known to cause adverse reactions to the drug. However, later tests suggested that the doctor had a genetic variant in dihydropyrimidine dehydrogenase (DPYD) that was not considered in the initial screening. According to the CBC, it’s unknown if the variant is more common in people of South Asian ancestry, however, one of the doctor’s two brothers also tested positive for the same genetic variant.
Biobanks with data from more diverse sources can be used to identify genetic variants associated with specific population or patient characteristics. This information can inform the development of safe, effective screening processes.
Current guidelines, frequently based on studies primarily involving Caucasian populations, may overlook potential risks for non-white communities in cancer treatments. It is crucial for the research community to adopt a more inclusive approach, recognizing the necessity for diversity in biobanks to avert potential tragic consequences in the future.
The Role of Pharmacogenetic Testing
Biobanks play a crucial role in helping us understand how our genes interact with medications, a field known as pharmacogenetics. Pharmacogenetic testing uses genetic information to help healthcare providers determine the best medication and dose for each patient’s specific needs. In late August 2022, DPYD genotyping became available for British Columbians. Every patient screened for DYPD genotyping is asked for informed consent to store their samples in a biobank for future advanced genetic testing.
A Call for Genetically Diverse Biobanks
To reflect British Columbia’s diversity, it is crucial to include data in biobanks from under-represented populations. While BC’s diverse population presents medical challenges, it also provides opportunities to gather more information about historically underserved populations. Indigenous populations are an important dimension in addressing underserved and marginalized populations.
Indigenous-led research initiatives are imperative to addressing the inequities experienced by Indigenous peoples. The Northern Biobank Initiative, funded by Genome BC and other entities in the province, engages northern First Nations communities in order to understand demographic and genetic variations across the province. This initiative seeks to serve patients better and conduct appropriate testing. Through collaborations with the First Nations Health Authority, the project established culturally sensitive biobanking practices following consultations with community leaders, Elders and Knowledge Keepers.
Following strong support for the establishment of an Indigenous biobank, the Northern British Columbia First Nations Biobank (NBCFNB) will prioritize the incorporation of traditional knowledge through ongoing involvement of First Nations Elders and Knowledge Keepers in the planning and development from the biobank’s inception. This biobank will be led by Dr. Nadine Caron, co-director of the Centre for Excellence in Indigenous Health at the University of British Columbia in Vancouver and UBC Northern Medical Program professor at the University of Northern British Columbia
More Progress Ahead
Biobanks have emerged as invaluable repositories of data and samples and are being leveraged to drive medical breakthroughs and advancements in personalized healthcare. However, to fully harness their potential, concerted efforts are needed to ensure the information collected in biobanks accurately reflects the diversity of our population. This will be key for unlocking the full spectrum of benefits they offer for improving health outcomes.
Advocating for oneself when in doubt about genetic testing or personalized treatment options remains paramount. Empowering individuals to be proactive about their healthcare decisions is a critical step in driving progress and ensuring equitable access to advancements in genomic medicine.
