Stores of Great Wealth

The treasure biobanks hold is more precious than gold

Any time you make a bank deposit, you’re hoping for a nice return. You want a good interest rate, whether it’s a savings account or a CD with a longer wait for payoff. The hope is to come away with a little bit more money than you had before.

Making a deposit at the biobank might cost you a bit more up front, in the form of, say, blood or tissue samples. But the payoff – both for the donor and for human health in general – can be tremendous. As a store of human genes and a source for studying their mysteries, biobanks contain treasures that can make all our lives richer.

Taking Samples

Biobanks store biological material and health information for patients who voluntarily donate samples, like the more than 135,000 people whose contributions are at the Mass General Brigham Biobank. They’ve been used in hundreds of studies covering all manner of physical and mental illness.

The bank assigns a subject ID number to each patient so their identities are hidden. If researchers find something wrong during a sample study, they can contact the patients to alert them without revealing their identities or compromising the study. The anonymized bioinformation is accessible online to affiliated researchers.

“By integrating all of this data, it improves the research,” the biobank’s principal investigator Dr. Elizabeth Karlson said. “If researchers are studying a particular disease, they can also find patients with similar characteristics but who don’t have the disease.”

If the samples are fine, they can serve as controls in research studies.

“Researchers do studies on the blood samples looking at different biomarkers, which are signals in the blood that can be associated with different diseases, or they might look at genetic data,” Karlson said. “Right now, we’re looking for 73 genes that are considered actionable by the American College of Medical Genetics. That means when you have one of these markers, there’s something you can do to prevent a disease.”

Predict & Personalize

Those studies can lead to medical breakthroughs, with the bioinformation providing invaluable insights. While they can’t replace randomized clinical trials, there are many cases where a large amount of samples stored in a biobank can yield better information at a lower cost than recruiting for and conducting a randomized trial. Such is the case when determining the role genetics play in patient response to prescription medications.

UCLA’s Michal Sadowski, lead author of a study in Cell Genomics on the topic, and colleagues used data from more than 300,000 people who donated to the UK Biobank to analyze how genetics affected their responses to four of the most commonly prescribed medications.

“If a lot can be explained by genetics, then genetics can be used as a good predictor of how you will respond to the drug,” Sadowski said. “Say you want to take statins because of your cholesterol levels. Your physician can look at your genetics and give you an opinion including potential side effects. If you have predictors that say you will respond well and there is a low chance that you will have side effects, it’s likely a good choice to start the treatment.”

Bioinformatics like that can make future studies better and predict treatment outcomes while reducing harmful side effects.

“We hope that in the future this will enable clinicians and patients to weigh the benefits and risks of a treatment in a more personalized way and make more informed and timely decisions to embark on the treatment,” Sadowski said. “We expect that the analysis of biobank data will be most useful for widely prescribed drugs.”

Bioinformatics Benefits

The knowledge gleaned from bioinformatics can speed up the process of drug development and enhance personalization of medicine, as a person’s genetic makeup can inform better, more targeted therapies.

Services like Bridge Informatics can do the analysis and storage of data. Biorepositories like Sampled can store the physical samples, supplying climate control and backup cold storage in case of power failure. Bioinformatics is kept just as secure, with cloud-based data storage and management, ensuring the vital information is well secure, both physically and digitally.

That enables researchers to make the most out of a rapidly developing field with potential impacts on diagnosis, pathogen control, and cancer treatment, to name a few.

“Bioinformatics has the potential to revolutionize our everyday lives, and its impact can be seen in a variety of applications. From drug discovery to personalized medicine, bioinformatics is providing us with tools that will help us make informed decisions about our health and wellbeing,” bioinformatician Venkatesh Chellappa of Sweden’s Karolinska Institute wrote. “Bioinformatics also has implications for improving agricultural yields and helping us better understand the environment around us. With continued advances in this field of science, we can look forward to even greater benefits from bioinformatics in the future.”

That’s a nice return on investment.