At Frederick Health, genetic technology makes medical care personal

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It’s been 20 years since the Human Genome Project produced humanity’s genetic instruction manual and opened the door to a new kind of medicine that can precisely identify diseases and treatments. Today, while not yet widespread in general practice, genetic medicine is on the rise, and one of its main objectives is the prevention of disease.

At Frederick Health, a growing precision medicine program uses genetic technology to diagnose and treat conditions such as cancer and heart disease. Pharmacogenomics, the field of research that examines how an individual’s genetic makeup affects their response to therapeutic drugs, helps medical staff determine which medicine best suits a particular patient.

“The future of medicine is really in genetics,” said Pat Rice, clinical director of the precision medicine and genetics program at the Frederick-based health care system, which integrates patients’ genetic information into their electronic health records. “Your unique genetic profile impacts both the way your body responds to an illness and how you process and react to different medicines.”

Rice, a nurse practitioner with advanced training in genetics, emphasized that Frederick Health’s precision medicine program also seeks to prevent disease in the first place.

“Previously, when I was in the oncology unit, I was seeing about 250 patients a year and the majority, 70%, had already been diagnosed with cancer,” Rice said. “One of my first objectives with this program was to turn those numbers around and see people for prevention.”

Today, two years after Frederick Health rolled out the program, 50% of patients come in for preventive services, she said, explaining that, for example, a patient with a family history of cancer will receive genetic tests for hereditary cancer risk.

“We take a three-generation family history and frequently will identify other conditions, such as extremely high LDL cholesterol,” Rice continued. “We’re identifying multiple things together when we do a comprehensive assessment.”

Pharmacogenomics has proven particularly successful in patients with major depressive disorders, Rice said.

“We know that the one-size-fits-all approach is not helpful for individuals with depression, who frequently go through multiple lines of therapy before they find success, if they do,” she said, adding that Frederick Health urges patients with behavioral issues to have genetic testing so they can receive the right drug at the right dosage.

Rice acknowledged that Frederick Health’s medical staff has been challenged by the rollout of the precision medicine and genetics program.

“Traditionally, genetics is not part of a medical education,” she said, adding that the health system has held continuing education events and collaborates with four geneticists and the National Human Genome Research Institute, which is part of the National Institutes of Health.

“The providers are slowly beginning to incorporate (genetic training) into their patient care,” Rice said. “We continuously try to educate as much as we can.”

Like Rice, Dr. William Queale, an assistant professor of medicine at Johns Hopkins and a primary care physician, believes genetic medicine will increasingly be used to identify genetic vulnerabilities and to head off illness.

“Medical genetics usually looks at somebody who has a disease, like colon cancer, then goes back to look for the specific mutation that causes colon cancer,” Queale said. “Genomics is exactly the opposite: It’s saying, you have all these genetic variants – which are normal genes but your variation – so how do we use that information to keep you from getting sick in the first place?”

He emphasized that everyone’s genome has strengths and weaknesses – some people might be good at fighting viruses but have trouble forming blood clots, others might metabolize toxins well but have difficulty digesting food — and said that medicine’s future lies in examining the interplay between each person’s genome and their environment.

“Genomics allows us to prospectively understand what’s coming down the pike for you and how do we head it off,” Queale said. “I think the focus going forward is to start to identify genetic vulnerabilities to environmental stressors.”

Concluded Queale: “To me as a primary care doctor, if I know that you are genetically vulnerable to sugar, that helps me guide you to how you should live your life. Genomics allows us to individualize medicine.”