On May 4, 2017, a critical milestone was reached in Canada with the passage of Bill S201, an act designed to prohibit and prevent genetic discrimination. This move towards genetic protection casts a spotlight on Canada, a nation also home to one of the world's largest DNA biobanks. But how did we get to this point?
Defining the terms
Biological samples, such as blood and cerebrospinal fluid, are vital for medical research. These samples can help detect cancers, infections, and a variety of other conditions. A biobank refers to a structured collection of biological samples. But with the game-changing development of next-generation sequencing (NGS), scientists can now sequence millions of DNA fragments at once, and biobanking has become a powerful tool for genomic research. Here are three reasons why scientists are so eager to get their hands on your DNA.
Five major types of biobank applications for genomic research (Lazareva et al, 2022).
The perfect reference
One of the most important reasons scientists are eager to collect your DNA is the use of a reference genome. A genome is the complete set of genetic information for an organism. Scientists compare the genome of a person with a disease to that of a healthy individual, using the healthy genome as a reference. This helps pinpoint which genes are linked to specific diseases. For example, we found that cystic fibrosis is caused by the deletion of three nucleotides (C-T-T) in the CFTR gene that would otherwise be found in a healthy genome. This deletion creates a different version of the gene, known as an allele. To understand how often these genetic variations occur and their impact, scientists need a large amount of genetic data making biobanks a necessity.
Predicting future disease
When a healthy individual donates their DNA to a biobank, their genetic information is stored alongside other health data. If, years later, this individual develops cancer, researchers can revisit their stored DNA sample to identify any genetic markers or mutations that might have predisposed them to the disease. This process is known as longitudinal genetic analysis. By comparing the DNA of those who develop cancer with those who remain healthy, scientists can pinpoint specific genetic variations associated with an increased cancer risk.
Using advanced techniques like whole-genome sequencing (WGS) and genome-wide association studies (GWAS), scientists can examine large datasets to identify even subtle genetic variants associated with cancer risk. These methods allow for comprehensive analysis of the entire genome, rather than focusing on specific genes, providing a more complete picture of genetic risk factors.
A sample being analyzed at the UK Biobank (Image courtesy of MIT Technology Review).
The real reason scientists want you DNA
Constructing references and predicting diseases are important reasons why your DNA is in high demand, but what's the real driver behind this interest? The answer lies in precision medicine. Precision medicine aims to tailor healthcare treatments to individuals based on their unique genetic makeup. Biobanking is essential for this as it involves collecting and analyzing vast amounts of genetic data to develop genome-informed treatments.
Several large-scale initiatives, such as the Tohoku Medical Megabank Organization, the Estonian Biobank, and CanPath, are leading the way in these efforts.
Many people are willing to donate money for cancer research but fear donating their DNA. However, there's no real reason to hesitate. By donating your DNA to a biobank, you're contributing to groundbreaking research that can lead to better, more personalized healthcare for everyone. So, consider making this invaluable contribution to science—your DNA could help unlock the next big medical breakthrough.
References
Lazareva, T. E., Barbitoff, Y. A., Changalidis, A. I., Tkachenko, A. A., Maksiutenko, E. M., Nasykhova, Y. A., & Glotov, A. S. (2022). Biobanking as a tool for genomic research: From allele frequencies to Cross-Ancestry association studies. Journal of Personalized Medicine, 12(12), 2040. https://doi.org/10.3390/jpm12122040
Cystic fibrosis. https://learn.genetics.utah.edu/content/genetics/cysticfibrosis/
O, & O. (2024, June 20). The whole genome sequence of 100,000 Japanese general population has completed -Largest in Asian population, one of the world’s Leading-|ToMMo. ToMMo ｜ Tohoku Medical Megabank Organization. https://www.megabank.tohoku.ac.jp/english/the-whole-genome-sequence-of-100000-japanese-general-population-has-completed-largest-in-asian-population-one-of-the-worlds-leading/
Estonian Biobank. Tartu Ülikool. https://genomics.ut.ee/en/content/estonian-biobank
CanPath. (2022, November 22). CanPatH - Canadian Partnership for Tomorrow’s Health. CanPath - Canadian Partnership for Tomorrow’s Health. https://canpath.ca/#:~:text=CanPath%2C%20the%20Canadian%20Partnership%20for,and%20people%20around%20the%20world.
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