Jillian Leister learned that she carries a genetic mutation for breast and ovarian cancer through the St. Luke’s DNA Answers research program.
“I was totally floored!” said the 40-year-old mother of two. “In an instant, my world flipped upside-down.”
But Leister, of Green Lane, Montgomery County, was not left to process the news on her own. Within the hour, she was called by St. Luke’s and was offered a consult the next day with one of the Network’s genetic counselors for follow-up questions and guidance on next steps.
“I trust St. Luke’s,” she said. “I appreciate that this call came quickly.”
DNA Answers is a no-cost community health research program, which St. Luke’s is offering with their population genomics partner, Helix. The organizations launched the DNA Answers research study as part of an ongoing commitment by St. Luke’s to the community it serves to offer the latest medical technologies that support a “precision medicine” approach in healthcare.
In January 2024, St. Luke’s launched DNA Answers, which involves ‘medical grade’ analysis of participants’ DNA through Helix’s Whole Exome(+) Sequencing (WES), technology designed specifically for healthcare purposes.
“We have arrived at a historic turning point in the history of medicine – the ability to use information stored in patients’ DNA to improve the accuracy of certain treatments for the individual patient,” said Aldo Carmona, MD, St. Luke’s Senior Vice President of Clinical Integration.
Christopher N. Chapman, MD, Medical Director for SLUHN Precision Medicine and the Principal Investigator for the DNA Answers study explained, “Our study initially aims to enroll 100,000 participants over four years. Participating individuals, like Mrs. Leister, are provided genetic screening at no cost, informing them of important health information about inherited risks for serious conditions, such as a certain type of cardiovascular disease and certain types of cancer. This knowledge allows the participant to make proactive decisions in conjunction with their healthcare provider to potentially delay, reduce, or even prevent these conditions from occurring later in life. Leister’s personalized DNA Answers report, shared with her via the St. Luke’s confidential patient portal, revealed that she carries the BRCA2 gene. Mutations in the BRCA2 gene are associated with multiple cancers, including breast and ovarian cancers.
“I felt like a ticking time bomb,” she recalled. And it puts her young daughters, ages 7 and 10, at a 50% risk of inheriting the BRCA2 gene.
The genetic counselor, Corrine Fillman, MS, CGC, explained Leister’s results in depth and offered to refer her to St. Luke’s specialists for next steps to address the issues linked to the BRCA2 mutation.
Within a few weeks, Leister met with St. Luke’s gynecologic surgeon Rick Boulay, MD, who advised her that preventive surgical removal of her reproductive organs would greatly reduce her chances for gynecologic cancer.
“It was a no-brainer,” she said, and Dr. Boulay performed the operation within a few weeks. “He’s fantastic!” she said, adding that the preemptive surgery was uneventful and “made sense since I’m through having babies.” Her mother, who has no history of cancer, is having her own blood drawn this month on the advice of her daughter.
Participating in DNA Answers may also allow you to keep learning from your DNA in the future. Since each participants’ genetic information has been sequenced and stored, it allows future clinical genomic tests to be run, with a provider’s order and patient consent, without the need to collect an additional sample. This could help providers tailor care options and prescribe medications even more accurately and effectively as well as provide patients access to ongoing genetic insights to continue learning about their health throughout their lifetime.
Currently, Leister is undergoing routine surveillance screening for signs of breast cancer, with alternating MRIs and mammograms every six months, with consultation from Fawn Wolf, CRNP, nurse practitioner-breast specialist. She’s planning to undergo a double mastectomy in early 2025, followed by breast reconstruction.
“I’m at peace now that I have knowledge, and knowledge is power,” she said.
Her husband, who has been her rock of support during this ordeal, had his genetic testing done through DNA Answers, she said. “He’s good, has no mutations.”
Having recently turned 40, Leister said she’s optimistic about her long-term health. “I think 2025 will be a good year to start middle age.”
She encourages her relatives and friends to participate in DNA Answers: “Do it. It’s provided at no cost and could save your life.” Some friends, in addition to her mother, have taken this advice.
“I feel super-thankful to St. Luke’s for offering this program and making their medical experts available,” Leister said.
To learn more about St. Luke’s community research study, DNA Answers, visit www.DNAanswers.org.
About St. Luke’s
Founded in 1872, St. Luke’s University Health Network (SLUHN) is a fully integrated, regional, non-profit network of more than 20,000 employees providing services at 15 campuses and 350+ outpatient sites. With annual net revenue of $4 billion, the Network’s service area includes 11 counties in two states: Lehigh, Northampton, Berks, Bucks, Carbon, Montgomery, Monroe, Schuylkill and Luzerne counties in Pennsylvania and Warren and Hunterdon counties in New Jersey. St. Luke’s hospitals operate the largest network of trauma centers in Pennsylvania, with the Bethlehem Campus being home to St. Luke’s Children’s Hospital.
Dedicated to advancing medical education, St. Luke’s is the preeminent teaching hospital in central-eastern Pennsylvania. In partnership with Temple University, the Network established the Lehigh Valley’s first and only four-year medical school campus. It also operates the nation’s oldest School of Nursing, established in 1884, and 52 fully accredited graduate medical educational programs with more than 500 residents and fellows. In 2022, St. Luke’s, a member of the Children’s Hospital Association, established the Lehigh Valley’s first and only free-standing facility dedicated entirely to kids.
SLUHN is the only Lehigh Valley-based health care system to earn Medicare’s five-star ratings (the highest) for quality, efficiency, and patient satisfaction. St. Luke’s is a Leapfrog Group and Healthgrades Top Hospital and a Newsweek World’s Best Hospital. The Network’s flagship University Hospital has earned the 100 Top Major Teaching Hospital designation from Fortune/PINC AI 10 years in a row, including in 2021 when it was identified as THE #1 TEACHING HOSPITAL IN THE COUNTRY. In 2021, St. Luke’s was also identified as one of the 15 Top Health Systems nationally. Utilizing the Epic electronic medical record (EMR) system for both inpatient and outpatient services, the Network is a multi-year recipient of the Most Wired award recognizing the breadth of SLUHN’s information technology applications such as telehealth, online scheduling and online pricing information.
Information provided to TVL by:
Sam Kennedy
