Journey of Empowerment Through DNA Knowledge

Jessica Burke of Allentown remembered she previously signed up to participate in the St. Luke’s DNA Answers research program offering no-cost genetic testing only when a lab technician reminded Jessica at a lab visit for routine bloodwork.

“I totally forgot about it, so I said sure, do the blood draw for that,” she said.

DNA Answers is a community health research program St. Luke’s is offering with its population genomics partner, Helix. St. Luke’s launched DNA Answers as part of an ongoing commitment to the community it serves to offer the latest medical technologies that support a “precision medicine” approach in health care.

The results that Jessica received from DNA Answers enabled her to take early, preventive action.

Jessica, a nurse for almost 10 years and the mother of three young children, tested positive for the BRCA2 gene. This means she has an increased risk for several types of cancer, including breast and ovarian cancer which her grandmother experienced.

When the test results came back, Jessica opted to speak with a genetics counselor who explained her results in depth and advised her to speak with a specialist to discuss her next steps in addressing the issues associated with the BRCA2 mutation.

“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.

Though the presence of the gene does not guarantee a person will develop those cancers, Jessica worked closely with her doctors to create a personalized cancer screening and risk-reduction plan.

Jessica, 32 at the time, decided with her medical team to take preventative measures and underwent a mastectomy as a proactive approach to her health. Based upon her specific circumstances, Jessica and her doctors determined it was appropriate for her to wait before undergoing a hysterectomy to reduce ovarian cancer risk.

“Having this genetic knowledge has been life changing and empowering,” Jessica said. “I think the whole knowledge is power mantra influenced me. Being in health care helped me make my decision. It wasn’t scary. What’s scarier for me is getting a cancer diagnosis when I’m in my 40s, 50s or 60s. I’m an anxious person, and to have to go through a mammogram and bloodwork every year and then wait for the results every year, that would be almost unbearable. I would be too nervous too often every year.”

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. Burke, 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 health care provider to potentially delay, reduce, or even prevent these conditions from occurring later in life.”

Jessica’s results, revealing she carries a mutation in the BRCA2 gene, has inspired others in her family to enroll with DNA Answers. Her sister tested negative for the mutation in the BRCA2 gene and now has clarity over her health. A cousin on her father’s side is also contemplating enrolling.

Participating in DNA Answers may also allow participants to keep learning from their DNA in the future. Since each individual’s genetic information has been sequenced and stored, it permits additional 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 learn what medications are more likely to work for the participant as well as potentially provide patients with additional genetic insights about their health throughout their lifetime.

There is no cost to participate in the DNA Answers  research program, although additional testing would be billed in the usual manner.