Endeavor Health builds on long history of Personalized Medicine Leadership with GenomicMD Polygenic Risk Score test

EVANSTON, Ill., May 2 2024 /  https://www.endeavorhealth.org/articles/genetics-polygenic-risk-score-test

Pictured above: Janardan D. Khandekar, MD, from the Mark R. Neaman Center for Personalized Medicine at Endeavor Health.

Buried in the double helix of your DNA is the secret to a potentially longer, healthier life.

And now, thanks to a pioneering polygenic risk score (PRS) test offered through Endeavor Health, patients of all ages will be able to tap into a treasure trove of genetic information to stay ahead of preventable chronic diseases.

Endeavor Health, in collaboration with GenomicMD, is among the first in the nation to offer the new PRS test. The test involves a simple blood or saliva sample that is analyzed in a lab using cutting-edge research to compare your DNA against a data bank of population genetics. You receive a “score” that tells you how high your relative risk is for certain heritable diseases. If you receive any scores that indicate a higher risk, your doctor will follow up with you to determine next steps.

“We are building this next generation of medicine where clinicians can use their patients’ unique genetic blueprint to ensure they get the right screening, the right drug or the right treatment … the first time,” said Peter Hulick, MD, Medical Director of the Mark R. Neaman Center for Personalized Medicine and Division Head for the Center for Medical Genetics, Endeavor Health.

Endeavor Health is proud to be home to the largest primary care-embedded clinical genomics program in the nation.

In addition, Endeavor Health has a large genetics research cohort, called the Genomic Health Initiative (GHI), which has recently welcomed its 60,000th patient with over half of these participants having already provided a DNA sample for research. Among other achievements, GHI has been integral to the process of validating PRS testing to help bridge research into clinical care.

Endeavor Health is committed to bringing innovative, personalized healthcare solutions to the Chicago area, and now will be the first health system to integrate PRS tests into regular checkups and wellness plans.

Dr. Khandekar’s inspiration to help those in need

Endeavor Health’s commitment to transform lives through personalized medicine started with one doctor’s vision to bring genomics-guided care to every patient and their family: Janardan D. Khandekar, MD.

As a teen growing up in India, Dr. Khandekar remembers being inspired to practice medicine while watching his physician father care for patients.

“We had no money, but he never charged anything,” Dr. Khandekar said. “I was 9 and a young child came in with a high fever. My father said, ‘Why did you bring him here? I would have visited the child at home.’ His assistant explained that the patient couldn’t pay. My father said, ‘It is really a shame that you would think I would not visit you because you are not paying my bills. So, shame on me.’”

Dr. Khandekar said the experience made him want to do everything within his power to deliver care to those in need, no matter the obstacles. Over his career, this has extended from making house calls for bedridden patients to personally picking up medicine for patients from the local pharmacy.

Dr. Khandekar even returned to India to lead medical bootcamps for medical professionals. There, he educated a group of doctors on cancer treatment and care. He also created a fellowship in his father’s name to bring Indian doctors to the United States to receive medical training.

Dr. Khandekar started working on genomics in 1989, when he wrote the first proposal to develop programs based on molecular medicine at NorthShore University Health System, now Endeavor Health. In 1997, he assumed the role of Director for the Center for Molecular Medicine, now known as the Mark R. Neaman Center for Personalized Medicine, to apply results of the sequencing of DNA to improve patient care.

While he retired from practicing oncology at the end of 2023, he continues to push personalized medicine forward seeing patients at the Mark R. Neaman Center for Personalized Medicine. “I’m retiring from oncology,” Dr. Khandekar said. “But I’m not retiring from genetics.”

Dr. Xu’s goal to apply genomic findings to patient care

Like Dr. Khandekar, Jianfeng Xu, DrPH, Endeavor Health Vice President of Translational Research, Program Director for Personalized Cancer Care and the Ellrodt-Schweighauser Family Chair of Cancer Genomic Research, who is the lead scientist collaborating with GenomicMD on PRS testing, has been using genomic data to improve patient outcomes and innovate in healthcare for years.

After studying medicine at Shanghai Medical University, Dr. Xu moved to America to attend Johns Hopkins School of Public Health in Maryland. He then started working professionally with genomics at Wake Forest University before transferring his research to NorthShore University HealthSystem, now Endeavor Health, in 2014, where he now serves as the Director of the Program for Personalized Cancer Care.

Dr. Xu says his desire to work at Endeavor Health is due to the system’s flexibility and patient-driven approach. “There's really an easy collaboration between leadership, physicians, research and the patient. So, it's ideal for translational research,” Dr. Xu said. “I came here, just one day for the interview, and I could see the picture. That's it. I called my wife and said, ‘We're moving north to Chicago.’”

His hard work has led to impressive developments in the field of genomics. Most recently, he has driven Endeavor Health’s efforts to make PRS a focal point in everyday checkups.

Earlier in his career, Dr. Xu successfully implemented PRS tests in prostate oncology clinics to better understand patients’ risk for cancer. But his goal to offer PRS tests outside of specialty clinics was not widely accepted in the past at institutions where he worked.

“The U.S. healthcare system is very bureaucratic, and you need a lot of people to approve how to do this and that,” Dr. Xu said. “You publish a paper, you get a grant, you have a patent, but you don't have something that can be used to help patients.”

At Endeavor Health, Dr. Xu has found a partner. The system is applying the learnings from PRS testing to improving care for its patients.

How the PRS test works

A polygenic risk score comes from a sample of DNA. This can either be from a few drops of saliva or a sample of blood. A lab then looks at these samples and compares them against a population database of genetics. This can help identify the patient’s risk for many chronic diseases, including:

• Chronic kidney disease
• Diabetes (types 1 and 2)
• Enlarged prostate (BPH – benign prostatic hyperplasia)
• Heart conditions (CAD, AFib, AAA)
• Obesity
• Prostate cancer

In the future, as scientists unravel more of the human genome, Endeavor Health plans to add more diseases to the testing list. Dr. Xu believes that at the rate researchers have been working, patients can expect to see about 15 diseases added per year.

What differentiates the PRS test

The key difference between the PRS test and other genetic tests is that PRS can look at the interactions between multiple genes to determine a patient’s risk for multiple disease types and use the information to recommend additional screenings and treatments.

“We probably have about 10 million genetic variants that differ between you and me. Now we're able to analyze each of those 10 million variants between case and control,” said Dr. Xu.

The PRS test also provides researchers with a growing bank of population genetic information to study and use to help a wider swath of patients. Endeavor Health’s Mark R. Neaman Center for Personalized Medicine lab has tested more patients in the last four years than in all the years combined since it began genomics research in the 1980s.

“Many organizations still treat genomics with a gatekeeper mentality,” said Dr. Hulick. “In order to achieve the goals of personalized medicine, genomics must be accessible to everyone at a population level.”

As researchers’ understanding of how variation in the human genome can impact the risk of developing disease has increased, doctors have been able to use these insights to develop more tailored care plans.

What’s next: The promise of genetic testing

The next frontier in genomics will come from the integration of bioinformatics and artificial intelligence. For instance, in the future, artificial intelligence will help integrate all facets of a patient’s electronic medical record more efficiently and accelerate medical care innovation to drive more precise, tailored care. While these advancements will not be here tomorrow, there is plenty to look forward to in the world of genomics and personalized healthcare.

According to Dr. Xu, every illness with a genetic component will eventually be tested for through PRS. Even some healthcare concerns which do not have a direct connection to a person’s DNA, such as physical injuries, may be better treated through genetic testing one day.

PRS tests have been around for years, but their primary use has been within specialist clinics for high-risk individuals. Now, Endeavor Health doctors are taking the next step and offering to all patients.

With the integration of PRS testing into regular checkups on the horizon, Endeavor Health is honored to embark on a new frontier of personalized medicine. Its patients may have an increasingly complete picture of their genetic map. For many, this will mean longer, healthier lives.

The promise of personalized medicine and its life-changing benefits for health and medicine continues to drive visionaries like Dr. Khandekar and Dr. Xu.

“Eventually, you will simply be able to do a blood draw and see if you have cancer in your body before it would show up on radiology images,” Hulick said. “That is going to be a game changer.”

“While short-term benefits will be here in the next two, three years, a lot of benefits may take many years,” Dr. Khandekar said. “But the changes I have already seen in my lifetime have been unbelievable.”

For more information and to determine eligibility for PRS testing, call (847) 570-GENE. PRS testing is not currently covered by insurance companies.

About GenomicMD, Inc.

GenomicMD, Inc. was formed in 2023 to help physicians integrate genetic-based personalized medicine (prevention, screening, education, and treatment) into their clinic while enabling individuals to take proactive measures to lead healthier lives by providing individualized disease risk assessments. GenomicMD is a CLIA-certified laboratory that offers its flagship Lifetime Genomics Risk Assessment (LGRA), a clinical grade, preventative screening test for healthcare providers to gain an objective foundation for an individual's genomic risk for common diseases. For more information, visit www.genomicmd.com.

Original Date of Blog: May 2, 2024
Original Link for Press Release: https://www.endeavorhealth.org/articles/genetics-polygenic-risk-score-test 
Author: Ryan Morton