News
St. Luke’s University Health Network Physician Assistant, Nick Lumi, turns making dinner into a family affair as his wife, Sarah, along with their two children Anna, 8, and Nathan, 10, at their Nazareth home. Nick recently participated in St. Luke’s DNA Answers program and is encouraging others to do the same in the hopes that potential illness could be prevented through the identification of genetic markers.
Though only age 38, Nick Lumi recently underwent a colonoscopy to search for the presence of polyps or evidence of cancer.
Lumi, of Nazareth, doesn’t have any symptoms of colon cancer, nor a family history of it, yet he underwent the colonoscopy because a special blood test, offered at no cost via a St. Luke’s community health research study called DNA Answers. The test found he carries a gene variant, or mutation, in one of the genes associated with Lynch syndrome.
Lynch syndrome is an inherited condition in which there is an increased risk for developing different types of cancer, most notably colorectal cancer. The lifetime risk of developing colorectal cancer in the general population is about 5%, but with this syndrome it jumps to 40% - 60% for women and 60% - 80% for men, with cancer often presenting in people less than 50 years old.
In December, St. Luke’s launched the community health research study, DNA Answers, in partnership with Helix, Inc., a California-based leader in population genomics. One of the goals of this joint initiative is to offer, at no cost to the participants, the opportunity to participate in research and have access to the latest screening techniques that support what is commonly referred to as “precision medicine.”
“Through insights gleaned from patients’ unique genetic make-up, precision medicine enables ‘individually tailored’ health care – from early disease diagnosis to individualized treatment,” said St. Luke’s Senior Vice President of Clinical Integration, Dr. Aldo Carmona.
Principal Investigator for DNA Answers, Chairman of the Department of Pathology and Laboratory Medicine and Medical Director for Precision Medicine at St. Luke’s, Dr. Christopher Chapman noted, “DNA Answers initially aims to enroll 100,000 participants over four years. The individuals who participate in the research study will be provided, at no cost, with important health information about their potential risks for serious health conditions such as certain types of cardiovascular disease and different types of cancer, thereby allowing them to make proactive decisions in conjunction with their healthcare providers to potentially delay or even prevent these conditions from occurring later in life.”
Said Lumi: “At first, having the test was a novelty to me, to learn if I have a predisposition to liking the taste of cilantro or to learn more about the geographic location of my ancestry.” Any research participant has the opportunity to register an account with Helix to access that additional information. In terms of learning that he carries a gene variant associated with Lynch Syndrome, Lumi recounted, “it was a surprise to me, and I’m glad I took the blood test, because now I can do something to try to prevent the cancer from developing or have it treated more precisely if I’m found to have it.”
Within two days of receiving his test results, Mr. Lumi had an initial counseling session with Monica Dillon, a member of St. Luke’s certified genetic counseling team. Shortly thereafter, his colonoscopy was performed by GI specialist Robert Malcolm, MD, of St. Luke’s Gastroenterology at St. Luke’s Monroe Campus.
“Both Monica and Dr. Malcolm were fantastic – truly – they were concise, informative and thorough. Dr. Malcolm explained that Lynch syndrome cancers may develop quickly from benign polyps to precancerous polyps to invasive cancer, so I will have a colonoscopy yearly for the next several years at least, before spreading them out, as well as upper endoscopy every 2 years,” Lumi explained. “I cannot say enough about how well Dr. Malcolm explained and addressed my concerns; it gave me a great sense of confidence with what our management plan was for moving forward”.
“I have to say, with getting these results back, I became anxious. No doubt. But because the study is set up with a great workflow and support for participants with positive findings, my anxiety was relieved by how quickly I was contacted by the genetic counselors and how quickly an action plan was put into place. Additionally, although this diagnosis was a surprise for me, having the knowledge and information surrounding this diagnosis empowers me to have my children screened at the appropriate time. As a parent, this knowledge is invaluable.”
To learn more about St. Luke’s community research study, DNA Answers, visit www.DNAanswers.org.
