Genes play a big role in health, including the risk of developing certain diseases and the effectiveness of various medications.

To receive personalized medical insights based on their genes, many patients are participating in the biobank at the Colorado Center for Personalized Medicine, which is a partnership between UCHealth and the University of Colorado Anschutz Medical Campus.

After a patient enrolls, a sample of blood is taken and reviewed for genetic variations in about 2 million spots in the genome.

Those results help in two ways. First, they allow researchers to learn more about diseases. For instance, teams are developing genetic models to help identify people at high risk for conditions such as diabetes and atrial fibrillation, which allows for early screening and preventative steps.

And secondly, results help patients by providing valuable information such as which medications and dosages are most effective, and whether a patient is likely to develop certain treatable diseases.

“That clinical part is unique,” said Dr. David Kao, medical director of the Colorado Center for Personalized Medicine. “We have a very clinically active biobank, which is exciting and makes it more attractive for participants.”

Medication types and dosages

The genes analyzed give insights into how a wide range of medications — from cardiac and GI medications to antidepressants and pain medications — will work for a patient. Abnormalities in these genes can signal that a patient might need a higher or lower dose of certain medications or a different type of medication altogether.

Among UCHealth biobank participants, over 90% take at least one medication and about half take at least two medications affected by the results the biobank returns.

“There are genetic variants that affect medications like ibuprofen or opiates, making them less or more effective,” Kao said. “If someone takes pain medications and feels sick or sedated for days, they may be afraid to take anything. These results can show they just need to use a slightly different agent.”

The genetic analysis can also reveal optimal dosages for chemotherapy, which can significantly impact a patient’s response to treatment.

“If chemo levels are too high, you may have terrible side effects that keep you from treating the cancer. If they’re too low, you’re not treating your cancer,” Kao said.

With more than 73,000 patients receiving these results so far, UCHealth has the biggest program in the U.S., maybe in the world.

“We’ve already seen a lot of impact,” Kao said. “Thousands of prescriptions have been changed because of it.”

The information is available in a patient’s health record: when a provider selects a medication, they’ll quickly see whether an alternative would be better.

As new interactions are discovered, patients will continue to get updated results, even if they’ve already submitted a sample.

“They won’t miss out if they’re an early participant,” Kao said.

Impact on early detection of treatable diseases

The genetic analysis also reviews dozens of genes for particular variants that can increase risk for life-altering or life-threatening diseases that are preventable or treatable. Those diseases include cancer, heart disease, diabetes, neurological conditions and more.

While these findings are infrequent, they are impactful. For instance, if a predisposition for breast cancer is found, a patient may undergo early MRI breast cancer screening.

“We’ve had some really striking examples of how this has benefited not only the participant but their family too,” Kao said.

Through participating in the biobank, one woman learned she had a genetic variant associated with a heart problem that can cause cardiac arrest without warning. She consulted the appropriate specialists and started monitoring for warning signs to avoid potentially life-threatening episodes. She can now consider monitoring for her young children if needed.

“This condition may be asymptomatic and only discovered after a patient has a cardiac arrest,” Kao said. “Awareness of this genetic variant can help avoid devastating events in any affected family members, including children and later generations.”

If a patient is shown to be at higher risk for developing one of the preventable or treatable diseases, a genetic counselor reaches out and determines whether the patient wants to be informed of the finding.

While genetic testing is helpful, Kao emphasized that it’s just one part of the picture.

“It’s like your blood count or how tall you are — it’s something that comes into play sometimes, but it doesn’t mean a certain thing is going to happen,” Kao said. “It can be a really helpful and different way of keeping people healthy.”

Kao also emphasized that the biobank has made such strides thanks to the focus from UCHealth. “This all exists because UCHealth has made it a priority and has decided this is the future of what medicine will be,” Kao said.

To enroll in the biobank, go to uchealth.org/services/biobank. Read and sign the biobank consent form in your My Health Connection patient portal. After enrolling, a blood sample will be taken during your next routine blood draw. There is no cost to participate.

Susan Cunningham writes for UCHealth Yampa Valley Medical Center. She can be reached at cunninghamsbc@gmail.com.