Biobanking makes genetics a fundamental part of health care – UCHealth Today

The Biobank provides DNA specimens for personalized medicine treatments and research. Photo: Getty Images.

A fundamental financial concept is that banks should be well capitalized with diversified investment portfolios. These two elements are the foundation of their economic strength.

In genetics, a different kind of bank must adhere to a similar set of principles in its own unique way.

On the Anschutz Medical Campus, thats the Biobank, which is part of the Colorado Center for Personalized Medicine. The Biobank is a repository of DNA specimens from UCHealth and Childrens Hospital Colorado patients. Researchers use the samples for research, genetic analysis and clinical care. The bank is one key element in efforts to advance personalized or precision medicine that aims to tailor medical care to the specific genetic makeup of patients.

But as with the banks with teller windows and ATMs, the Biobank and other biorepositories like it need deposits and the more the better, says Dr. David Kao, medical director of the Colorado Center for Personalized Medicine. The deeper the biorepository, the greater the evidence on which to learn from and draw reliable conclusions about, for example, specific genetic mutations and the health conditions linked to them.

The fewer the people, the more generic the treatments, Kao said. The more people, the more targeted or personalized are the treatments.

In addition, Kao said, biobanks grow stronger as they diversify genetically. A repository that accurately reflects a communitys makeup is well positioned to assist clinicians and researchers in serving that community. Call it a well-diversified genetic portfolio.

For these reasons, Kao and his colleagues are working to reach out to UCHealth patients and the wider Colorado community to encourage people to participate in the Biobank. In an interview with UCHealth Today, Kao explained what the Biobank is, how it operates, and how it benefits both patients and providers. He also addressed questions about how the Biobank protects patient privacy.

The Biobank is essentially a large research study that aims to collect DNA specimens from a set of UCHealth and Childrens Hospital Colorado patients who voluntarily agree to participate.

The fundamental goal is to understand how genetics fits into everyday health, Kao said. We can learn how patients genes are associated with different facets of health, whether that is risk of developing certain conditions, or responses to treatment, or ways to prevent disease, Kao said.

To do that, biobanks strive to increase the number of specimens in the repository. Doing so enriches the genetic diversity of the specimens. That, in turn, helps researchers and clinicians learn more about the unique characteristics of patients in different racial and ethnic groups, for example.

A surprising amount of what we know about genes and diseases has come from a relatively narrow population of people white males, Kao explained. That is not the world, so we have discovered that the diversity that exists is important to study in order to know if the recommendations we are making are appropriate in different populations.

There are several reasons that it makes sense to have a local biobank, Kao said.

The first is that having a unique, local biobank helps with the practical goal of incorporating genetics into health care. The Biobank at the Colorado Center for Personalized Medicine contains samples and genetic information derived from UCHealth patients. That can enrich the knowledge their providers use to treat them.

We are able to assess how genetics are important to treating our patients here, Kao said. We can tell providers what the best things to do are, with confidence that it applies to the person in front of them.

For example, Kao said, Hispanics make up about 15% of UCHealths patient population. Genetic information from a biobank of patients from, say, the United Kingdom, with a much smaller Hispanic population, would not make an ideal match.

You know youre going to miss something, he said.

In addition, the Biobank specimen data links to a deep reservoir of clinical data stored in the Epic electronic health record (EHR), a capability many other institutions lack, Kao said.

Finally, the Biobank is set up to return certain clinical results from DNA specimens to patients. To our knowledge, we are the only biobank that does that, Kao said. Genetic research benefits everyone, but here you can get an individual benefit.

There are three main ways that the Biobank can help individual patients, Kao said.

First, there are a set of about 75 genes with significant health implications, most notably breast and other cancers and heart failure caused by organ deterioration that begins at a young age.

These are conditions that the genetics community has said, If you see this, you really need to tell the person, Kao said.

About 60 UCHealth patients with these genes have been identified, with about half so far contacted directly to notify them and help them make further decisions, he said.

Second, data about genes that affect how certain medications work or dont work go directly into a patients medical record in the EHR. If a provider tries to prescribe one of these medications, a message pops up with a warning about the patients genetic risk.

One example, Kao said, is statins, a frequently prescribed class of medications that protect against heart disease. In patients with a specific genetic abnormality, the drugs can cause muscle aches and soreness. Without understanding the genetic cause, the patient might stop taking the drug and increase their risk of heart problems. On the other hand, if the provider knows a specific drug has those side effects, theyll simply choose a different one.

We can make sure the person gets the medication they need without being misled by side effects, Kao said. He added that as of recently, the Biobank provides genetically driven advice for all statins because they are so commonly prescribed.

Third, genetic data has been used to flag other conditions, such as risk of hemochromatosis, or iron overload. The condition generally doesnt produce symptoms early, but over time, it can cause deposits of the mineral in the liver, heart and joints. A specific gene is usually present in people who have hemochromatosis, Kao said, although not everyone who has the gene will develop problems. But with knowledge of the gene, again embedded in the EHR, providers can advise patients to get screened early and, if necessary, get treatments, which are effective.

Without the genetic information, most patients wouldnt think to check about iron levels at an early age, Kao said.

Specimens are protected through the same protocols used to store other research specimens across the University of Colorado Anschutz Medical Campus, Kao said. They are placed in tubes with no patient identifying information and stored in deep freezers behind multiple locked doors, with access limited to very specific personnel, he added.

The data lives in a highly secured, cloud storage environment that is more secure than the electronic health record, Kao said. The specific genetic data is stored without patient identifying information attached to it.

It is true that for people with the specific genes discussed earlier (and others), the Biobank has a matching process used to regenerate the connection between them and their samples, Kao said. So we do have a path to trace genetic data back to an individual, because that is how we are able to put specific results back into the medical record. However, he added, that path involves several steps that are each secure in their own right. A hacker would have to breach all the systems involved and then know the protocols to rematch genetic data to an individual, and there are a number of safeguards to protect that from happening, Kao said.

Some researchers on campus use the results of the Biobanks analysis of DNA specimens, Kao said. Others may use samples for further testing in pursuit of their own research. But they have no access to patient-identifying information, he added.

Yes, some do. But, there is always rigorous protection of patient privacy, Kao said.

We collaborate with a number of national and international consortia of biobanks for research and innovation, he said. One purpose is to study conditions that might be seen infrequently in a place like Colorado or another state, region or country. With a much larger pool of biobank data, we can make some conclusions about relatively rare conditions, Kao said.

Dr. Chris Gignoux, director of research for the Colorado Center for Personalized Medicine, said the Biobank is part of consortia that include the Covid-19 Human Genetics Initiative, the Global Biobank Meta-analysis Initiative, and the Biobank Rare Variant Analysis consortium. Gignoux added that the Biobank works frequently with UCLA (ATLAS) and Mount Sinai (BioMe), and is now collaborating with those two biorepositories on three major grants. The Biobank also shares data with the Million Veteran Program and Vanderbilt University (BioVU), among others, he said.

The simplest way is to sign in to your My Health Connection account (or create one). Click the UCHealth Research Opportunities button on the main page to read more about the Biobank and view the consent form. After reading the form, you can sign it, decline to or elect to decide at a later time.

At your next clinic or hospital visit that requires a blood draw, a provider will draw at least one extra tube of blood. Kao said the Biobank has started more recently to use saliva-based collection, and mailed out 250 kits in early June. We may be ramping that up, he said.

Its important to be part of the research because the more different people that we have, both in terms of genes and their entire life course, the better we can understand how to customize, select and choose with each person how they want to treat disease or manage their health over time, Kao said.

Kao added that as medical director of the Biobank, he wants genetic medicine to become an accepted part of all medicine. I want more patients and providers to be aware of it and expect it, just like getting your blood sugar checked, he said. Part of that is empowering patients to learn about and figure out how to use the Biobank, how it matters to them and how they want to engage with it.

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Biobanking makes genetics a fundamental part of health care - UCHealth Today