What’s in your genes? What this mom learned after donating one vial of blood to the biobank.

Jan. 13, 2025
Kristina Paul donated a vial of blood to the Center for Personalized Medicine Biobank, a partnership between UCHealth and the University of Colorado Anschutz Medical campus. What she learned came as a surprise -- one she's grateful for. Photo by Sonya Doctorian, UCHealth.
Kristina Paul donated a vial of blood to the biobank at Center for Personalized Medicine, a partnership between UCHealth and the University of Colorado Anschutz Medical campus. What she learned came as a surprise – one she’s grateful for. Photo by Sonya Doctorian, UCHealth.

During a routine annual visit to her doctor, Kristina Paul volunteered to donate a vial of blood for one reason: to help researchers find new treatments for diseases.

The process was simple. She signed a consent form agreeing to allow scientists to study her genetics and then a phlebotomist drew an extra vial of blood along with her regular labs.

Her blood went to researchers at the biobank at Center for Personalized Medicine, a partnership between UCHealth and the University of Colorado Anschutz Medical campus.  In the center’s biobank, researchers look for clues in human genes to discover ways to advance medicine in cancer and heart disease and other conditions. Also at the center, scientists study pharmacogenomics – how a person’s genetics may impact how they react to medications.

Advancing medicine through genetic testing and research

The goal of the center, often referred to as the biobank, is to advance medicine. A growing understanding of the genetic basis of disease (the human genome) is helping doctors tailor health care to a person’s unique makeup and make optimal decisions for care.

Since its inception, more than 250,000 people have volunteered to give blood samples. Thousands of patients have received pharmacogenomics results that are related to how a person’s genetics impact their reactions to certain medicines. In addition, more than 750 biobank participants have received specific results related to risks for diseases such as heart disease or cancer.

One of them was Paul, a vibrant mother of a boy, Calvin, 4, and a girl, Eve, 6. In late 2023, Paul received a phone call from Emily Todd, a genetic counselor whose job is to confirm consent from biobank participants and discuss findings as long as they want to receive the information.

Kristina and Sean Paul and their children, Calvin, 4, and Eve, 6, at their Centennial home.Photo by Sonya Doctorian, UCHealth
Kristina and Sean Paul and their children, Calvin, 4, and Eve, 6, at their Centennial home. By donating to the biobank, Paul learned she has a genetic risk for ARVC, a progressive condition that can cause arrhythmia and in serious cases, sudden cardiac death. Currently, she has no signs of the disease. Photo by Sonya Doctorian, UCHealth.

Paul opted to learn her results. Scientists found that Paul, 40, has a mutation of a gene that puts her at high risk for developing a condition called ARVC – arrhythmogenic right ventricular cardiomyopathy. The mutation causes proteins to malfunction in the heart muscle and over time, fatty deposits and scars build up in the wall of the heart muscle. Those fatty deposits and scars can then interrupt electrical currents in her heart, causing ARVC.

The progressive condition can cause arrhythmia and in serious cases, sudden cardiac arrest.

“It’s a significant heart issue that if not treated can be very serious. It’s a progressive condition so you have to catch it early. I think that is the beauty of the biobank,’’ Paul said. “Knowing that I have this genetic risk, if I start to develop symptoms, I am fast-tracking myself to treatment.’’

Here’s how to enroll in the biobank

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.

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.

Her doctor is one of the world’s leading experts in genetics and ARVC

Paul considers herself fortunate to have the knowledge, and fortunate that the finding led her to Dr. Luisa Mestroni, one of the world’s leading experts in medical genetics and genomics and how mutations in genes affect the heart.

Dr. Luisa Mestroni
Dr. Luisa Mestroni

“Many years ago, that was the topic of my work as a medical student and that was the very first paper that I wrote,’’ said Mestroni, a cardiologist.

Mestroni moved from Italy to Colorado in 1998 to join the CU School of Medicine as professor of cardiology. She is the principal investigator and founder of the International Familial Cardiomyopathy Registry, with genetic information collected on more than 2,000 people, several of whom have mutations that may cause ARVC. The registry – and the biobank at CU – allows further research to be done, with the ultimate goal of developing new therapies, including gene therapy to treat cardiomyopathy.

“The benefit of biobanking is to discover potential carriers and potential patients that can develop major problems,’’ Mestroni said.

In some cases, patients may have a mutation though they have a less severe manifestation of disease or do not manifest any symptoms of the disease. Also, biobanks occasionally discover patients who already have signs of the disease who are at risk but are not yet diagnosed and are able to receive treatment before something major happens.

As for ARVC, Mestroni said biobanks are finding more cases than originally anticipated.

Though Paul has not developed symptoms of ARVC, Mestroni is providing advice in terms of lifestyle.

Kristina Paul's family take off on scooters at their neighborhood park.Photo by Sonya Doctorian, UCHealth
Kristina Paul’s family take off on scooters at their neighborhood park. When genetic testing showed her risk for ARVC, Paul was grateful for the knowledge. Photo by Sonya Doctorian, UCHealth.

“In her case, it was actually very good news that every test that we did, everything was in the normal range. There was normal function of the heart, no arrhythmias and she has good exercise capacity,’’ Mestroni said.

Based on test results, Paul needs to be seen every two years by Mestroni to ensure that her heart function stays normal.

“In terms of lifestyle, there are some recommendations to not do too strenuous exercise and have moderate exercise, but no marathons or Ironman,’’ Mestroni said.

A clinical lab technologist makes DNA dilutions before genetic testing at the Colorado Center for Personalized Medicine Biobank Laboratory. Photo: Sonya Doctorian.
A clinical lab technologist makes DNA dilutions before genetic testing at the Colorado Center for Personalized Medicine Biobank Laboratory. Photo: Sonya Doctorian.

Symptoms for ARVC include:

  • Syncope, which is fainting or passing out.
  • Fatigue or shortness of breath
  • Sudden cardiac arrest
  • Palpitations
  • Tachycardia
  • Light-headedness
  • Swelling of the legs

For patients with ARVC who are at risk for cardiac arrest, one of the treatments is to place an implantable cardiac defibrillator. In rare cases involving dysfunction of the heart, there are therapies available to help the heart muscle, Mestroni said.

Gene therapy is available for one gene that causes ARVC for existing patients, but not for the gene that is affecting Paul, Mestroni said.

The gentleness of a genetic counselor

Emily Todd, the genetic counselor whose job is to confirm consent for participation in the biobank before providing biobank results to biobank participants – as long as the participant wants to know the results – leads with gentleness.

“I call them first to confirm their consent, and then we have a whole discussion, not about their results but the implications of receiving their results,’’ Todd said.

Todd informs patients about potential legal, insurance and employment (mostly military) implications, giving people a choice at that time to either opt in or opt out of receiving results.

“Or, I say ‘take time to think about it.’ Because sometimes I call people and they say they’re unsure … Maybe they want to talk to their family or their support people. Maybe they want to go buy life insurance.

“So, I try to have a very gentle touch at that point to let people know that they can take their time, they can ask questions, they can go through whatever process they need to go through to make decisions,’’ Todd said.

Most people, Todd said, are very curious and they want to know as soon as possible. Some people take their time, others decline to know the results.

“Just because someone signed a consent release doesn’t mean that they don’t have choices,’’ Todd said.

Once a person confirms they would like to receive a result, a phone call is scheduled and results are released. From there, the discussion moves to one about clinical options.

People need varying amounts of information. For instance, a person who has already battled breast cancer doesn’t need information about how to be treated. A large part of conversations concerns the implications for biological relatives.

In Paul’s case, for instance, there is a 50% chance that she could pass along the gene mutation that results in a risk for ARVC.

Kristina Paul watches Eve swing onto the monkey bars at their neighborhood park. Photo by Sonya Doctorian, UCHealth
Kristina Paul watches Eve swing onto the monkey bars at their neighborhood park. Photo by Sonya Doctorian, UCHealth.

“We have a lot of older participants in our biobank, 85-year-olds, and they will say to me: ‘I’m 85. I’m not doing anything with this information, but I have kids, I have grandkids and I have great-grandkids,’’’ Todd said. “So, a big part of what we are trying to do is give people information that they can then disseminate through their families so that the impacts of the biobank are wider than the number of participants in the biobank.’’

Beyond a conversation, the biobank also provides patients with a written document that can be emailed or sent via text to disseminate information to family members.

Emily Todd
Emily Todd

Todd, who has vast knowledge of providers and physicians at UCHealth, then connects patients to the right experts, as she did connecting Paul to Dr. Mestroni.

“For me, it is my utmost hope that having this information benefits someone’s health care. … Having the information shortens time to diagnosis for some people, leads them to the right care management plan faster and then the hope is to mitigate bad outcomes. That’s really our hope with this. Or, to shorten someone’s diagnostic journey,’’ Todd said.

A focus on cardiovascular disease and cancer

The majority of results delivered so far through the biobank are related to risk for cardiovascular disease and cancer.

Though Paul initially consented to participate in the biobank because she “could help become part of the research and help advance medicine, it was probably the last thing on my mind that I would get a result like this.

“It turns out I have a real personal benefit out of it for myself and my family and that was very unexpected,’’ Paul said. “The knowledge that I have this genetic predisposition means that if I develop symptoms, it’s one of the first things we’d be looking for. There’s no wasted time in getting treatment.’’

Paul has notified family members that she has a mutation of a gene that places her at risk for developing ARVC, and she will discuss ARVC genetic testing with her children when they are older. She is hopeful that researchers, through biobanks like the one she contributed to, may be able to develop gene therapies to combat ARVC or discover more genetically.

“Is there a second gene that hasn’t quite been found, a gene that is somehow correlated with the way the disease manifests itself?’’ Paul asks.

Being keenly aware of the symptoms of ARVC – and recognizing them should they rear up – is knowledge, Paul believes, that could preserve her quality of life – or even save her life.

And having Dr. Mestroni, one of the pioneers in genetics and heart muscle diseases in her corner before symptoms potentially develop is another source of comfort.

“I feel very lucky that she is right here in our backyard,’’ Paul said.

About the author

Erin Emery is editor of UCHealth Today, a hub for medical news, inspiring patient stories and tips for healthy living. Erin spent years as a reporter for The Denver Post, Colorado Springs Gazette and Colorado Springs Sun. She was part of a team of Denver Post reporters who won the 2000 Pulitzer Prize for breaking news reporting.

Erin joined UCHealth in 2008, and she is awed by the strength of patients and their stories.