Top 5 reasons to participate in the biobank at the Colorado Center for Personalized Medicine

Jan. 31, 2022
A technician prepares a sample for genetic sequencing at the Colorado Center for Personalized Medicine’s Biobank. UCHealth has collected 85,000 biospecimens since the Biobank commenced biospecimen collection in 2016. A technician prepares a sample for genetic sequencing at the Colorado Center for Personalized Medicine’s biobank. UCHealth has collected 90,000 biospecimens since the biobank commenced biospecimen collection in 2016. As participation in the biobank increases, researchers are able to learn more.
A technician prepares a sample for genetic sequencing at the Colorado Center for Personalized Medicine’s biobank. UCHealth has collected 90,000 biospecimens since the biobank commenced biospecimen collection in 2016. As participation in the biobank increases, researchers are able to learn more. Photo courtesy of CCPM.

Dr. David Kao of UCHealth University of Colorado Hospital specializes in cardiology.

But one of his biggest passions is “banking,” as in biobanking.

As medical director of the Colorado Center for Personalized Medicine (CCPM) Kao oversees the clinical activity of the CCPM’s most important operation: the biobank, a partnership between UCHealth and University of Colorado Anschutz Medical Campus.

The biobank doesn’t hold any cash deposits, but its ultra-cold freezers store contents which are potentially priceless: donated samples of blood and saliva from about 90,000 (and counting) UCHealth patients.

So far, UCHealth researchers have analyzed the DNA of about 34,000 of these samples. Because the process takes a long time, they initially were able to return genetic results to only several hundred patients. But recently they released results to about 9,000 additional patients, a harbinger of bigger things to come.

The results contain important information about the association between certain genes and the risk of certain diseases, including some types of cancer and cardiovascular conditions. They also can predict how patients will respond to certain medications.

Such results can be used to help create a testing, treatment and clinical care protocol unique to each patient, which is the primary goal of personalized medicine.

About 190,000 UCHealth patients have enrolled in the biobank by signing the required consent form.

Kao and his colleagues would like to see that number dramatically increase.

Dr. David Kao discusses the top five reasons to sign up to participate in the biobank.
Dr. David Kao

“Ideally, we would like to see everybody in our health system participate,” Kao said. “But realistically, our first real pop-the-champagne target has always been 500,000 enrollees, or about a quarter of our active patients. That’s what we need to enrich our research and benefit as many lives as possible.”

Kao and his colleagues have launched a public awareness campaign to show how a bigger Biobank can improve the health of patients, their loved ones, and the community at large.

Here are the top five reasons to sign up to participate in the biobank:

Help advance science and medical progress

The CCPM and biobank originated in 2014 when UCHealth and the University of Colorado School of Medicine announced a major long-term investment to gather genetic information from a large, diverse group of people and combine the data with their health records.

The aim was to find new ways of detecting, treating, preventing, and even curing disease, and develop personalized plans for treating each patient based on their unique genetic blueprint.

By studying the association between genes and certain patient types or phenotypes, researchers hope to better understand the genetic causes of disease. They’re also looking at pharmacogenetics, which is how genes affect the action of medications, including side effects.

For the chance to get clinical results back about your genes

“The goal of the biobank was to create a large repository of DNA samples from UCHealth patients, primarily for the purposes of research and discovery about disease and illness,” Kao said. “But it also was designed to return genetic results to biobank participants as we develop new knowledge and technology.”

The biobank may be able to return three types of clinical genetic test results: those that predict your response to medications, which may indicate that you need a higher or lower dose or a different medication; those that show you have an increased risk of certain diseases, which may warrant more intensive screening and surveillance; and those that identify you as a “carrier” of certain genetic diseases.

Although carriers may not show any symptoms of these diseases, they can pass on genes that lead to serious illnesses in their children.

It’s also important for biobank participants to understand that only a small number of genes are analyzed and that the only results sent to their medical record are those that directly impact their clinical care.

“We’re not returning people’s entire DNA sequence to their medical records,” Kao said. “It’s only a handful of some pretty common genes that find their way into the records.” It’s best to only draw conclusions from findings that the biobank does report to you and to no make any assumptions if they don’t.

Already, biobank results are changing the way patients are treated. An example is David Clay, a biobank participant who was not benefiting from the standard dose of the antidepressant citalopram (Celexa).

When a biobank message popped up on Clay’s electronic medical chart, his primary care physician, Dr. Richard Altman, experienced an “a-ha” moment.

It turned out that Clay had a mutation or variant of the CYP2C19 gene, which caused his liver to metabolize citalopram much more rapidly than most people. Since Altman was already considering upping the dosage, the finding made it an easy call. The new, higher dosage helped relieve Clay’s bouts of nighttime anxiety.

The biobank’s pharmacogenetics initiative also will explore how variants of the SLCO1B1 gene can result in elevated drug levels and cause muscle pain or degeneration in some patients taking statin medications for high cholesterol; and how variants in the gene DPYD gene can slow the metabolism of some common chemotherapy drugs, which can lead to toxic concentrations of these drugs.

Some patients have learned that they carry gene variants associated with a higher risk of cancer, including breast cancer and colon cancer.

“These people didn’t have a reason to think they had a high cancer risk,” Kao said. “Then, as a result of their participation in the biobank, they did. Those were potentially life-saving results not only for them but for their families.”

“In such cases, you may be screened more often. You may have a procedure performed to prevent cancer. You may have your children receive cancer screenings earlier in life than they otherwise would have. So the approach to your health may be completely different.”

Participation in the biobank is easy

To enroll in the biobank, you must be a UCHealth patient, age 18 or older, and able to consent for yourself.

By signing on to your My Health Connection account, you can access, read and sign the required consent form.  If you do not have an account, you can create one.

“Once you’ve signed the consent form, you don’t have to make any extra appointments or trips,” Kao said. “During your next routine blood draw, an extra vial of blood will be drawn for the biobank.”

Although blood is most often collected for the biobank, patients have the option of donating a saliva sample instead.

The biobank is aware that would-be participants may have privacy concerns. So it takes extra protections to protect participants’ identities and clinical genetic results.

Information is stored in secure computers with locked files that can only be accessed by authorized personnel. Whenever possible, information and the actual donated samples are stored with a code instead of personal information such as a name or Social Security number.

In addition, any data the biobank shares with outside research partners is purged of any personal or identifying information.

“Privacy is a key part of this,” Kao said. “The CU-maintained databases are hyper-secure and undergo frequent reevaluations to prevent breaches.”

We can’t do what we do without you…. and thousands of others.​

To find links and trends in its genetic data, the biobank needs a large pool of genetic samples and medical records.

When it meets its goal of enrolling 500,000 UCHealth patients, preferably from as varied and diverse backgrounds as possible, it will have the data it needs to meet its goals and possibly make groundbreaking discoveries.  ​

“Even though only 34,000 patients have been fully analyzed so far, that’s enough to look at a lot of different things, whether it’s genes associated with certain diseases or those associated with a response to certain medications,” Kao said.

“Obviously as the number of participants gets bigger, we can look at more and different kinds of conditions, including rare diseases. We also can look at social and racial groups that are not always well-represented in research studies.”

Contribute to something bigger than yourself

With very little commitment, you can take action to support research that hopefully will someday impact medical advances for all of humankind.

You can come from any walk of life. You don’t have to be a doctor or researcher to make an impact.

Donating a biological sample to the biobank is an easy way for anyone to contribute to science and the collective good, and show appreciation for the care they have received.

“People have become more altruistic during the COVID pandemic,” Kao said. “They want to help.”

Much of the time, participants enroll in research studies to help answer one question, such as “Is medication X an effective treatment for condition Y?”

“With the biobank, however, there are so many genes and diseases that you can potentially help answer thousands of questions and impact a great many people,” Kao said.

About the author

Rick Ansorge is a freelance health writer based in Colorado Springs, Colorado. He has produced online content for multiple online publications. He has won numerous awards for newspaper articles about health and fitness.

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