Research: Understanding the role genetics play in COVID-19, other diseases

UCHealth partnership with Colorado Center for Personalized Medicine aims to boost understanding of COVID-19 and more in short and long term, for one and for all.
June 24th, 2020
UCHealth and the Colorado Center for Personalized Medicine (CCPM) are teaming up to understand the genetic underpinnings of the coronavirus and many other diseases. The genotyping happens on an Illumina microarray such as this one. Photos by Christen Nehmer/UCHealth.
UCHealth and the Colorado Center for Personalized Medicine (CCPM) are teaming up to understand the genetic underpinnings of the coronavirus and many other diseases. The genotyping happens on an Illumina microarray such as this one. Photos by Christen Nehmer/UCHealth.

There’s never been a bad time for a UCHealth patient to donate a sample to the Colorado Center for Personalized Medicine’s biobank. But if you’re curious as to whether you’ve already had COVID-19, there’s never been a better time than right now.

UCHealth and the Colorado Center for Personalized Medicine (CCPM) have worked as a team since the CCPM’s establishment in 2015. UCHealth patients have donated more than 143,000 samples to the CCPM’s biobank of which 30,000 have been genetically analyzed so far. There’s a good reason for that teamwork.

UCHealth is on the front lines of the continuing fight against diseases of all sorts. Genetic variations are increasingly implicated in all sorts of diseases. The CCPM’s mission is to understand the connections between genetics and disease. Such understanding will, its leaders and many others believe, lead to the development of better preventatives and treatments and to help UCHealth and others fight diseases.

Two reasons to contribute to the biobank

COVID-19 is the disease overshadowing all others at the moment. UCHealth offers both coronavirus testing (which tests for the virus itself using a nasal swab) and antibody testing (a blood test that looks for antibodies left behind after the immune system has fought the virus). One can sign up for either test at UCHealth’s My Health Connection portal. If you schedule an antibody blood test, you’ll have the option to allow a second small vial to be filled – a vial which will land at the CCPM’s biobank. There are two good reasons why you might consider doing so.

First, your contribution to the biobank can help advance medical science over the long term. Size matters when it comes to building a genetic database, which is what the CCPM biobank is. While the biobank does retain frozen blood samples, its real power is in its ability to store, classify, and analyze the genetic information derived from the partial sequencing of the DNA in those many blood samples.

Some of these genetic analyses are straightforward: cystic fibrosis, sickle-cell anemia, and Huntington’s disease are all caused by a problem with a single gene of the roughly 25,000 in our genome. But scientists now know that all-too-common maladies such as heart disease, high blood pressure, arthritis, diabetes, cancer, obesity, Alzheimer’s disease, and asthma have strong genetic ties. Crucially, these genetic ties bind not to one, but to dozens, hundreds, or even more genes.

“What we’ve learned over time, particularly with the technology that lets us sequence entire genomes and understand more about genetic variation, is that for many of these complex diseases like asthma, diabetes, and cardiovascular disease, there are literally thousands of genetic variants that are contributing to the risk of those diseases,” said Kathleen Barnes, a University of Colorado School of Medicine geneticist and the CCPM’s director.

Kathleen Barnes leads the Colorado Center for Personalized Medicine.
Kathleen Barnes leads the Colorado Center for Personalized Medicine.

To understand such complex connections, one needs a huge number of genetic samples – millions being better than thousands, Barnes says. Some diseases may only occur in one in 100,000 people, after all.
“In genetic research, we really go for big numbers,” Barnes said. “A hundred thousand is just the minimum we think we need to make important discoveries.”

Second, your contribution to the biobank may help you in the near term. While your genetic data is anonymous at the CCPM, its link to your UCHealth medical record number gives you the option of letting CCPM researchers alert your UCHealth doctor as to genetic markers that relate to a growing number of diseases.

“We started by returning pharmacogenetic results – that’s how a patient’s genetic makeup can influence their processing of certain drugs,” said Stephen Wick, a CCPM and CU School of Medicine geneticist and regulatory expert. “Also, we’re going to start looking at cancer and cardiovascular disease, and if somebody has an important genetic marker, we will begin to return those results to patients who wish to have them.”

There’s also a medium-term benefit to be considered, one having directly to do with COVID-19. The CCPM is harnessing its genetic expertise to develop what could become a highly accurate test to determine if someone is currently infected with COVID-19. Today’s tests sample for genetic markers of the SARS-CoV-2 virus that causes the disease. CCPM researchers are harnessing their expertise in a stretch of DNA on chromosome 6 (called the HLA complex) to develop a test to detect the coronavirus based on how the presence of SARS-CoV-2 affects the activation of a patient’s genes in that stretch of DNA.

“We think that by doing this, we’ll be able to capture infections at a much earlier stage of disease, identifying infection in individuals who might be asymptomatic and therefore aren’t being tested,” Barnes said. “We can use those data to also create predictive algorithms to tell us which patients with COVID-19 are most likely to go on to develop worse disease and end up in an intensive care unit.”

Genetics and COVID-19

The CCPM has also been part of the Anschutz Medical Campus’s coronavirus-related mobilization. Wicks and CCPM-geneticist colleague Kristy Crooks led a team of six who developed, tested, and received U.S. Food and Drug Administration certification for a coronavirus RNA test in the span of eight hectic days in March. The CCPM’s testing capability was intended to serve as a backup should front-line testing run into mechanical or other problems, Wicks says.

Stephen Wicks, a Colorado Center for Personalized Medicine researcher and regulatory expert, and colleague Kristy Crooks led a crash program that created a coronavirus test in eight days.
Stephen Wicks, a Colorado Center for Personalized Medicine researcher and regulatory expert, and colleague Kristy Crooks led a crash program that created a coronavirus test in eight days. That test is helping researchers understand the genetic aspects of COVID-19.

On a broader scale, the CCPM is part of the COVID-19 Host Genetics Initiative, a consortium of institutions from 45 countries who are generating, sharing, and analyzing data to understand the genetic aspects of COVID-19 susceptibility, severity, and outcomes.
“The purpose of the consortium is for us to all come together with all our genetic tools so that we can try to understand to what extent genetics is contributing to who develops COVID-19 and who doesn’t,” Barnes said.
As part of that effort, the CCPM is sending a consortium-developed survey to all of its 143,000 biobank participants with the aim of associating risk factors and symptoms with genetic data.

Barnes, Wicks and many others at the Colorado Center for Personalized Medicine are grateful to the tens of thousands of UCHealth patients who have helped medical science while potentially helping themselves through their donations to the CCPM biobank. With antibody testing requiring a blood draw regardless, and considering the work the CCPM is doing on the coronavirus and many other diseases, they’re hoping that many, many others join the effort to understand the complex role of genetics in COVID-19 and many other diseases.

 

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About the author

Since 2008, Todd Neff has written hundreds of stories for University of Colorado Hospital and UCHealth. He covered science and the environment for the Daily Camera in Boulder, Colorado, and has taught narrative nonfiction at the University of Colorado. He was a 2007-2008 Ted Scripps Fellowship recipient in Environmental Journalism at CU.

His latest book, "The Laser That’s Changing the World," tells the story of the inventors and innovators who saw, and ultimately realized, the potential of lidar to help solve problems ranging from smokestack-pollution detection, ice-sheet mapping, disaster recovery, and, ultimately, autonomous-vehicle guidance, among many other uses. His first book, "From Jars to the Stars," recounts how Ball Aerospace evolved from an Indiana jar company - and a group of students in a University of Colorado basement - to an organization that managed to blast a sizable crater in the comet 9P/Tempel 1. "Jars" won the Colorado Book Award for History in 2012.

Todd graduated with a business degree from the University of Michigan, where he played soccer, and with a master’s degree from the Fletcher School of Law and Diplomacy at Tufts University. Before becoming a journalist at the turn of the millennium, he was an IT and strategy consultant. He once spoke fluent Japanese and still speaks fluent German.

When not writing, he spends time with teenage daughters and wife Carol, plays soccer, and allows himself to be bullied by a puggle he outweighs by a factor of seven.