Genetics and the Indiana Biobank

How the biobank is using genetics to enable the next generation of medical research

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Genetics and disease

Some people find it helpful to think of their DNA as book. Just as a book contains all the information necessary to tell a story or cover a topic, your DNA contains all the information necessary to describe why you have the physical characteristics that you do.

While a book is made up of chapters, our DNA is made up of genes. Our genes describe why we have certain traits, such as curly hair or blue eyes. However, some of our genes also play a role in determining our risk for developing certain diseases. For example, some genes can cause you to have higher levels of cholesterol in your blood, which may raise your risk of developing certain cardiovascular conditions. Other genes impact your insulin production, which can elevate your risk of developing type 2 diabetes. You may have also heard of BRCA 1 and BRCA 2 gene mutations, which can increase a person's risk for developing breast and other cancers.

Genetics, biobanks, and the future of medicine

Medical researchers are still figuring out what genes are associated with what diseases and to what extent certain genes affect our overall risk of developing certain health conditions.

To carry out genetics-related studies, researchers often need access to the DNA of thousands, or even hundreds of thousands of individuals who have certain diseases. By collecting, maintaining, and ensuring the accuracy of their donor's genetic data, biobanks play a key role in enabling genetics-related research.

Many people see this genetics research as enabling the future of medicine. If we know more about the genetic causes of certain diseases, then we can do more to address them, such as developing medicines that target specific genes or therapies that help lower a person's risk for developing a certain condition.

Transforming Samples into Genetic Data

The Indiana Biobank generates genetic data from donor's samples by having these samples undergo a process called genetic sequencing. This process provides the biobank with a fairly accurate picture of a donor's overall genetic profile, which can then be used by researchers who are investigating the role that genetics play in our health.

Genetic sequencing is a complex process that requires specialized equipment and trained technicians. This makes genetic sequencing quite expensive. For this reason, the biobank does not conduct the sequencing itself, but rather partners with a company that specializes in sequencing.

Click here if you would like to learn more about genetic sequencing at the biobank.

Genetic Research at the biobank

Turning Genetic Data into Research Projects

Research enabled by the biobank's genetic data

Uncovering the role of genetics in substance use disorders

Substance use disorders (SUDs), sometimes called drug or alcohol addiction, are chronic health conditions that are now considered to be the result of biological, environmental, and developmental factors. Recently, researchers have begun to explore if SUDs also have a genetic component. Using genetic data from the Indiana Biobank, researchers at the Indiana University School of Medicine are currently studying whether certain genes and genetic variants may be associated with SUDs. Discovering which particular genes and gene variants are associated with SUDs could help in developing preventive therapies and treatments for these disorders.

Understanding the genetic risk behind coronary artery disease

Coronary artery disease (CAD) is the most common form of heart disease in the United States. CAD is the narrowing of a person’s arteries due to a buildup of plaque. CAD restricts blood flow to the heart, which can cause a range of distressing symptoms and raise a person’s heart attack risk. Having certain genes can raise a person’s risk for developing CAD and some companies have developed genetic tests that can be used to determine if a person is at a higher risk for CAD. The sequencing data from donors at the Indiana Biobank has been used to help ensure the accuracy and reliability of these tests.

Reducing the risk of serious drug side effects

Statins are a commonly prescribed drug that are used to help lower a person’s LDL or “bad cholesterol”. Unfortunately, a small percentage of patients who take statins may develop a serious side effect that results in severe, permanent damage to their liver. Using the genetic sequencing data at the Indiana Biobank, researchers at the Indiana University School of Medicine are uncovering the role that genetics play in causing this serious side effect. By discovering how genetics might be responsible for causing this side effect, a genetic test can be made and administered to patients before they are prescribed a statin and determine if they are at-risk for this serious side effect.

Will the biobank return any genetic findings to me?

The biobank is not intended to directly support or improve their donors’ medical care. For this reason, it does not routinely share the results of genetic sequencing with donors. However, during a study, a researcher may discover that a donor may be at a higher risk for a specific disease or condition. In these cases, the biobank will contact the donor and ask if they would like to receive this information. This information is not a medical diagnosis and should not be used to make medical decisions. Instead, the information is intended to help donors learn more about themselves and their health. Donors can choose to share this information with their medical providers, who can then offer appropriate medical advice and guidance.

How does the biobank protect my privacy while sharing my genetic information?

Although your DNA is unique to you, the biobank takes extra steps to ensure that researchers using the biobank cannot identify you based on your DNA. To do this, the biobank creates what is called a “trusted research environment” (TRE). In this TRE, genetic information about your DNA (a gene or group of genes) and de-identified health information from your medical record (test results, medical conditions, etc.) are shared with researchers. De-identification of your health information minimizes the risk for identification by removing information such as your name, birthdate, or address. De-identification also includes scrambling dates (such as when a test or scan might have been performed) and other information to further minimize identification risks. This TRE helps ensure that researchers cannot identify you based on your genetic data. Additionally, any researcher who requests to use the biobank must agree that they will not attempt to identify participants. Researchers are not given access to any data until they agree not to identify participants.