If you’ve received medical or other health services in recent years, even something as simple as a blood draw, you may have been invited to have information about your test results, along with certain specifics in your medical records, submitted to a biobank. Why would you want to do this, you may have wondered.
One reason is rather altruistic: By participating in a biobank, you can help aid research into how genetics impacts health overall. A second reason is more personally self-interested: Biobank results from your submissions may predict your risk of diseases, including some types of cancer, heart disease, muscle disease, and others. And they may also predict your response to certain medications. Key advantages are that this might lead to a quicker diagnosis and treatment of an adverse medical condition you encounter, now or in the future. Later in this article we will describe just how critical a benefit this was in a real-world Colorado case.
But first, let’s discuss what biobanks are and what they do.
Two Biobanks in Colorado
There are at least two biobanks operating in Colorado. One is the Biobank at the Colorado Center for Personalized Medicine (CCPM). This is a partnership between UCHealth (UCH) and University of Colorado Anschutz Medical Campus. The second is called the Colorado Longitudinal Study (COLS), a nonprofit research effort based in Fort Collins and affiliated with Colorado State University.
UCH says the vision 10 years ago for its biobank was to generate genetic data from patients who agreed to participate and then use that data to identify specific genetic variants that could increase the risk of cancer, heart disease, and other health problems. The data could also be useful in looking at issues involving how patients process a variety of medications. Since it launched, this biobank has seen more than 135,000 patients provide blood samples. Toward the end of 2023, over 350 phone calls had been made to patients whose biobank samples had genetic variants that increase disease risk and that also have treatments for those diseases. Nearly 22,000 have received information about how their genetics may affect either their health prospects or their metabolizing of medications — what is technically known as pharmacogenomics. UCH says these results have been used by healthcare providers to impact screening, diagnosis, and treatment decisions.
Pharmacogenomics Research Has Been Key in Colorado Studies
UCH reports that the vast majority of those aforementioned 22,000 participants had to do with pharmacogenomics. The CCPM team has identified seven genes/gene pairs that can impact how the body breaks down or transports dozens of drugs, including chemotherapies for cancer treatment, cholesterol-lowering statins, antidepressants, proton-pump inhibitors to treat stomach ulcers, antifungals, antiseizure medications, pain medications, and anti-inflammatory medications among them.
“In some cases,” UCH notes, “a drug can be life-threatening to those with a genetic variant that, for example, makes it hard for the body to break it down.” This is because when you take a drug, your body needs to find a way to use it. “Some proteins in your body break down (or metabolize) medicines,” UCH says, and “if you break down a medicine too fast or too slowly, this may cause the medicine to not work as well or it may cause a side effect. By testing your DNA, we can find DNA differences that may provide information about how you may respond to certain medicines.” This can aid in choosing meds and dosages that benefit you the most, and in the safest way.
Pharmacogenomic results found via the biobank feed straight into the patient’s electronic health record, and the patient is alerted to potential risks just as for any other ‘My Health Connection’ test result. (‘My Health Connection’ is the patient portal for UCHealth.) Patients who have received biobank results can also contact the biobank to connect with a pharmacist to discuss how their results may impact their care.
Coloradans’ Disease Risks Also Studied Thru Biobank
Another key focus of biobank-related research is predicting disease risk. UCH explains that genetic results can help quickly pinpoint a genetic disease, perhaps when symptoms have just begun to impact a patient, and allow for early intervention that can make a difference and hopefully slow the disease process. UCH explains that “Once a disease risk result is discovered and the patient asks to learn more, the biobank creates a clinical-grade genetic result that is shared with the patient and their providers. It’s this sort of follow-up that really matters to patients. We can take that patient from, ‘Here are your results’ to ‘Here are your options.’ Those options can include referrals to specialists with expertise in these sometimes rare, genetically linked diseases.” In other cases, genetic results can help providers and patients learn about risks in a way that directs them to make lifestyle changes to enhance their health.
Real-World Colorado Case from Biobank Enrollment
UCH described a case in which biobank enrollment made a huge difference for one of their Colorado patient participants. She was a 65-year-old in Fort Collins who had been very active physically, but who had started to not feel well and experience heart palpitations. She at first wondered if the fatigue and the heart palpitations just had to do with normal aging. But then she fainted while out on a walk, and it seemed obvious something else was going on. She began to undergo tests guided by her primary care physician. She received a call from the lead genetic counselor at the Colorado Center for Personalized Medicine (CCPM), who told her the biobank’s analysis of her sample had found a genetic result that could affect her health and might therefore be a factor in her new symptoms.
Long story short, it turned out that examining the patient’s biobank data led to identifying a fairly rare gene that can cause a form of amyloidosis, which can trigger the production of sticky amyloid protein clumps that can gather in the heart and the nervous system. Imaging studies confirmed the amyloid buildup. It also confirmed that her disease, which can cause electrical issues in the heart, was still in its early stages. “Genetic results helped quickly pinpoint a genetic disease whose symptoms were starting to impact [the patient’s] life,” UCH said. “Early intervention made a big difference. Because we were able to catch this early, she’s going to do quite well long-term. It’s this sort of follow-up that really matters to patients.” The patient’s amyloidosis is now held in check through medications.
Biobank Q&As of Interest to Coloradans
UCH offers answers to several of the frequently asked questions about its biobank. Here are key ones.
What do I gain by joining a biobank?
When we analyze your genetic sample, we may learn something that is medically relevant for you. If you consent to return of results, we may share medically relevant information with you. We cannot guarantee that we will find such information in every case. The primary goal of this research program is to help researchers understand how our genes affect health. Your contribution may help further that research. It could lead to improvements in medical care that may help us better fight the diseases that affect you, your loved ones, future generations, and the community at large.
How will my biobank sample be identified?
Although the blood or saliva collected by a lab has some personal details such as your name and date of birth, when the sample is used for research, it is given a unique code and only the biobank can link the code to your personal information. Researchers outside the biobank will generally not have access to information that can directly identify you. The Colorado Multiple Institutional Review Board (COMIRB) is an administrative body that protects the rights and welfare of human research subjects.
Will I receive results from my biobank genetic sample?
If you signed a biobank consent that allows us to return results, we may be able to return results to you if we find something important regarding your health. For more information about the types of results we may be able to return and how these will be returned, visit this web page. Again, we cannot guarantee that we will find any relevant clinical genetic test results to report in every case.
How is my information in the biobank shared?
By sharing data, we hope to help researchers to conduct more research on health conditions with the goal of finding better treatments. We will share data on biobank participants with research partners who have the proper approvals. We will also share some of the genetic data we have generated in databases such as dbGaP, which stands for “Database of Genotypes and Phenotypes” that is sponsored by the National Institutes of Health (NIH). Data shared with dbGaP is de-identified to remove personal information such as names, addresses, and dates of birth. We may also share de-identified data with industry partners, including those who are developing new drugs or treatments.
What protections are in place from a biobank for my health information and sample?
We follow federal privacy laws and health care regulations to protect your information. Any data shared through our partnerships does not contain personal or identifying information. All information used by the biobank research study will be protected using secure computers and locked files, so that only authorized people can access it.
Do I get paid for being in biobank?
You will not receive payment for being part of this research study. You also will not have to pay anything to be in this study. Neither you nor your insurance carrier will be billed for donating a sample to the biobank.
How do I enroll, and can I withdraw from biobank after enrolling?
To enroll, read and sign the biobank consent form in your ‘My Health Connection’ patient portal. Then the next time your doctor orders a blood draw, an extra blood sample will be conveniently collected for the biobank at no cost to you. You can withdraw from the biobank research study at any time. You use this form to withdraw: https://medschool.cuanschutz.edu/cobiobank/biobank-withdraw-form. Once you withdraw, any unused samples of yours will be destroyed. Information from your sample that has already been used for research won’t be destroyed.
Disclaimer from UCHealth: Genetic results are not guaranteed for participants of the biobank. The biobank is primarily a research project to make general discoveries about health and risk of disease using data analysis of large populations. For many people, we will not find any relevant clinical genetic test results to report. Also, not all participant samples will have genetic testing done on them.
Colorado’s Other Biobank
The other Colorado biobank, the Colorado Longitudinal Study (COLS), shares similarities with the UCHealth/Anschutz model, but there are also differences. It is, for instance, focused more narrowly on research and even states: “COLS is not medical treatment. It is a research project. You will not get direct medical benefit by participating in COLS.”
But COLS has ambitious goals in health information data-gathering and improving health outcomes by using such data. Its online information states: “COLS is determined to create the world’s most thorough and largest longitudinal or long-term biobank that… scientists from everywhere can use to learn about diseases, what causes them, and how to stop and treat them.”
A unique aspect of COLS’s data-gathering staff is that they also collect lifestyle information and how this affects health. “Our health isn’t just about our bodies,” they state. “It’s also about housing, income, education, and how stressed we are. COLS also gathers info about your health and how you live. This helps scientists study how all these factors affect your well-being.”
COLS also seeks to gather things like blood samples, health information, and answers to surveys from participants for 10 years. “By studying you over time,” they say, “[we] can find out what might make people sick and how to keep them healthy.” COLS also states that in addition to collecting DNA as most biobanks do, it also collects “other delicate molecules in blood like RNA, proteins, lipids, and metabolites,” saying this offers more understanding about participants’ health.
They explain that “Collecting data from a diverse population of people with different health conditions over time, will allow researchers for the first time to look ‘back through time’ to understand factors that were present before the disease is diagnosed. Identifying those factors can lead to initiatives that screen for and prevent disease before it begins or diagnose and treat it at very early stages.”
COLS Seek a Diverse Mix of Colorado Participants
COLS reportedly began enrolling participants in the initial pilot project in Fort Collins in 2022, with plans to add additional recruitment sites across the state. The aim is to ensure the inclusion of participants representing the diversity of the state. “We want a wide range of people, with different ethnicities, races, lifestyles, ages, education, and income levels,” they say. COLS collection sites are called Engagement Centers and are selected to provide easy access for participants from many different communities.
COLS says on its website that it has partnered with the Human Performance Clinical Research Laboratory (HPCRL) at Colorado State University (CSU) to provide clinical support at its first recruitment site in Fort Collins. HPCRL will conduct the consent process with participants, collect blood samples, and provide lab technician and biospecimen storage.
Privacy of Coloradans’ Information Protected
On the issue of data privacy, COLS says all personal health information collected through surveys and health records will be stored in a data vault by the Colorado Community Managed Care Network (CCMCN). They note that CCMCN has almost two decades of experience storing protected health information and currently stores the electronic health records for all Federally Qualified Health Centers in Colorado. To effectively serve as a repository of data for researchers, they say the biological specimens and personal/social health information of participants will adhere to the FAIR principles (Findable, Accessible, Interoperable, and Reusable) as outlined by the Office of Data Science Strategy (ODSS) within the National Institutes of Health. Specimens and data will also be stored in accordance with the federal HIPAA Privacy Rule. Data will be provided to researchers in a de-identified form with all names, addresses, dates, and other identifiers removed.
Coloradans Exclusively Recruited
The initial phase of COLS was set to include 500 participants aged 35 and older from Fort Collins. The next phase planned to recruit 5,000 participants from the Fort Collins and Metro Denver areas. Over time, the goal is to recruit hundreds of thousands of participants from across Colorado to include every age group from infants to seniors.
COLS is recruiting exclusively from Colorado because “it is important to remove as many variable factors as possible. By collecting data on Colorado residents only, some of these variable factors are eliminated.” Due to Colorado’s diversity, they say it is still able to collect data from a population that is diverse in the factors that need to be studied, such as urban vs. rural, different age brackets, mix of genders, socioeconomic factors, and social determinants of health such as housing, education, nutrition, community support, and more. COLS adds that if a participant expresses an immediate need on a survey, such as food insecurity or a potential mental health crisis, “there will be an automatically generated response that provides a list of resources in your community that may be able to help.”
How Will Coloradans Benefit?
Although COLS is not designed to provide a direct medical benefit, participants may find value in knowing they are participating in a project that will improve health for future generations. They may feel satisfaction in contributing to the advancement of scientific knowledge that might help prevent or cure a disease that could one day impact them or their family. COLS adds that there may also be opportunities to participate in clinical trials and studies related to specific conditions, depending on future collaborations between COLS and other research groups.
It doesn’t matter if you have a pre-existing condition or not. COLS calls it a key advantage that they will track all types of people without any qualifiers. “This will help us build the world’s most comprehensive biobank that will include biological samples and sociological data from participants before and after they develop health issues,” they say.
How Coloradans Can Get Involved
“Enrollment is easy,” COLS says. “We ask that you provide a blood sample at our Engagement Site, once a year, answer initial surveys, and others that are sent to you a few times each year. Participation only takes a few hours each year.”
Here’s how you get started:
- Create an account on our COLS participant portal
- Sign the consent form
- Schedule an appointment at the Columbine Health Systems Center on Healthy Aging at Colorado State University (located in the CSU Health and Medical Center at 151 W. Lake Street in Fort Collins.)
- Attend your appointment and provide a blood sample as well as physical measurements (such as height, weight, blood pressure, and grip strength)
- Complete the baseline survey including personal and family health history
You can also sign up for the COLS newsletter to keep updated on the biobank’s progress.