Sheets of paper and small tubes are symbols of the next big step in the development of UCHealth’s Center for Personalized Medicine.

The sheets and tubes are essentials in a soon to be implemented initiative to greatly expand the number of patients who consent to give blood samples to the center’s DNA Biorepository on the Anschutz Medical Campus in Aurora. The ultimate aim: build a bank with rich deposits of genetic material that could one day reveal the roots of disease, thereby helping scientists and clinicians to assess risk and develop new therapies with greater precision.

A machine for extracting DNA from blood samples at UCHealth’s DNA Biorepository as it was running through tests in mid-August.

The Center for Personalized Medicine, which launched in 2014, began collecting blood samples from patients who gave their consent in a pilot program started late last year in the Cardiac & Vascular Center at University of Colorado Hospital. The effort expanded in July to the Transplant and Rheumatology clinics, the Breast Center and the University of Colorado Cancer Center.

With a five-year goal of collecting 500,000 samples, the center aims to quicken that pace greatly, said Jessica Mestas, director of system integration for UCHealth. Beginning Oct. 12, the patient consent process will be expanded to all remaining ambulatory clinics, inpatient units and the Emergency Department at UCH. The long-range goal is to include all UCHealth hospitals and ambulatory locations, Mestas added.

Drawing it up

The basic plan is for staff to give patients a consent form with FAQs at check-in or admission. Those who sign the consent form will have an extra tube of blood collected the next time they come in for a blood draw. The extra tubes, designated for the Biorepository, will go to the Clinical Laboratory, where they will be stored temporarily.

The Biorepository is now fully outfitted with the equipment necessary to complete the molecular process necessary to genotype the vast majority of a person’s genetic material – strings of nucleotides, the basic building blocks of DNA, arranged in a variety of sequences. With access to a vast pool of these genotyped samples – with personal health information separated, to protect patient privacy – investigators will search for genetic patterns that many believe will be the guideposts for developing new targeted treatments and therapies in the years ahead.

Plans are for the genotyping to begin sometime this fall. For now, Biorepository Manager Nate Kahn, PhD, is leading the painstaking effort of testing and validating the facility’s equipment in preparation for obtaining CLIA (Clinical Laboratory Improvement Amendments) certification from the Centers for Medicare and Medicaid Services, which regulates laboratory testing. The high-tech equipment includes machines that extract and purify DNA from blood; liquid-handling robots; chips for DNA samples; high-speed sequencers, and much more. The work also includes writing standard operating procedures for the entire process, Kahn said.

While that work proceeds, the steps to prepare for the expanded consent process proceed in tandem. Anticipating that both staff and patients will have many questions, Mestas said the team is developing a marketing campaign, working on a video that explains the concept of personalized medicine and biobanking, creating a website, and educating clinicians on the importance of the work. The goal is also to use My Health Connection, the Epic patient portal, as another source for individuals to learn about the program and to sign consents.

It’s a complex project with an important message for people who might wonder why they should consent to giving an extra tube of blood, said Emily Roberts, coordinator for the DNA Biorepository.

“Personalized medicine is the wave of the future,” she said. “It’s where medicine is headed: treating patients before they get sick.”

Everybody in the pool

In fundamental ways, personalized medicine turns the concept of patient care on its head, said Matt Taylor, MD, director of Adult Clinical Genetics at UCH and associate director of the Center for Personalized Medicine. In standard clinical trials today, Taylor investigators recruit patients with particular diseases. It’s a time-consuming process that includes not only finding patients but also obtaining trial funding, collecting samples, gathering data, and testing.

“If I want to run a study for 1,000 patients, that’s a couple of years of my life just to get organized and enroll that number,” Taylor said. “Leading academic centers have taken notice that the research value of personalized medicine lies in the fact that it is inclusive of patients rather than selective.”

With a biorepository, he said, investigators have access to a deep pool of samples and data that have already been collected, with the molecular testing completed in many cases. In addition, they can look at genetic material collected not only from people with a particular disease but also those who may be at risk for the disease, and those who are healthy. The key is discovering the differences.

“Right now we largely treat patients on the basis of categories of diseases,” Taylor said. There is not a great deal of variation in the therapies, for example, that individuals with diabetes receive. The promise of personalized medicine is that it will help investigators not only predict the probability of disease but also identify “subcategories” tied to particular genetic changes. That, in turn, opens the door to developing therapies that target those changes and reducing trial-and-error approaches that result from having too little information about a person’s illness.

Even in oncology, which has to date led advances in targeted therapies, much of the genetic information comes from tumors, Taylor said. A biobank with reservoirs of genotyped DNA offers the possibility of leveraging the entirety of an individual’s genetic information, Taylor said.

“We want to look not only at a tumor, but at the whole patient,” he said.

On the horizon

There is much work yet to be done to build the Biorepository, but Roberts said outreach will continue, with employee biometric screenings and flu clinics among future targets for getting consents. In addition, efforts are underway to generate interest in and encourage support for personalized medicine in the broader community, she said.

“It won’t happen overnight,” Taylor said. It will be an ongoing challenge, he acknowledged, to garner interest in and support for a research-driven initiative among staff and providers whose focus is on meeting the daily demands of their clinics and units. But in the end, individuals who agree to the extra blood draw will be important to the future of the Center for Personalized Medicine, Taylor said.

“Now community members and staff can become ambassadors of the project,” he said. “We want to do the best we can with the resources we have to get Colorado out in front of the pack and be participants in transforming medicine, not bystanders.”