- NewYork-Presbyterian empowers patients by allowing self-referral for genetic cancer screenings.
- The program offers remote genetic testing via telemedicine and at-home kits for convenience.
- Cascade testing at NewYork-Presbyterian helps identify cancer risks in patients' family members.
For years, the promise of genetic testing has been clear: Identify people at elevated risk for cancer and intervene before the disease develops or when it's most treatable. Yet millions of Americans who could benefit from genetic screening never receive it.
"We've had the tools for more than a decade," said Dr. Melissa Frey, a gynecologic oncologist and Director of the Genetics and Personalized Cancer Prevention Program at NewYork-Presbyterian. "We need better delivery models so that we can get individuals the knowledge and the access to care to improve screening rates."
That challenge helped inspire NewYork-Presbyterian's Genetics and Personalized Cancer Prevention Program, an initiative designed not only to expand access to genetic testing for individuals and their families but to connect patients with the long-term care, support, and prevention strategies that can lead to lifesaving outcomes.
Roughly one in four people has a personal or family history that meets evidence-based criteria for genetic testing that is also typically be covered by insurance, Frey said. Yet the number of people who actually undergo testing is dramatically lower.
"As a medical community, we are not identifying these people, and/or there are barriers between having that history or family history and making it to testing," Frey said.
Removing barriers to access
Often, people seeking genetic testing might have to wait six months or longer, Frey said. NewYork-Presbyterian's program allows patients to self-refer, eliminating the need for a physician referral and creating a pathway for anyone interested in learning more about their cancer risk.
After meeting with a clinician to discuss the risks, benefits, and implications of testing, patients provide either a blood sample or a saliva sample. For many, the entire process can be completed remotely through telemedicine and at-home testing kits and can include analysis of dozens of genes associated with hereditary cancer risk.
"That's step one," Frey said.
"Genetic testing is important because it provides information, but the testing itself is not going to save lives," she said. "We will only save lives if you can link testing to a care plan and to preventive care."
Moving from reactive to proactive medicine
That philosophy is at the heart of the program's personalized approach. When testing identifies an inherited cancer risk, patients receive an individualized prevention plan based on their genetic findings, age, family history, and overall health.
For some patients, that may mean enhanced screening, such as breast MRIs, pancreatic MRIs, or pancreatic endoscopic ultrasounds, designed to detect cancer when it's early and most treatable. For others, it may involve preventive surgery to reduce the likelihood of developing cancer.
"An important goal of medicine in this century is to move from reactive — waiting for disease to present — to proactive," Frey said. "Understanding what someone is at risk for so that we can intercept that or detect it at its earliest possible stage."
In addition to prevention and screening, researchers are increasingly exploring "interception" strategies to identify and stop disease as cells transition from normal to cancerous states. While many of these approaches are in the research phase, they represent another step toward earlier intervention.
NewYork-Presbyterian's program is designed as a long-term relationship rather than a one-time consultation. Instead of sending patients to multiple specialists immediately after a positive result, the program provides patients with a dedicated clinician who helps manage risk over time and updates recommendations as science and life circumstances change.
Extending prevention beyond the individual
The program also provides "cascade testing" — identifying and testing family members who may share an inherited cancer risk. If one person carries a hereditary cancer mutation, their first-degree relatives each have a 50% chance of carrying the same mutation, while second-degree relatives face a 25% chance.
Despite those odds, only about one-third of eligible relatives typically pursue testing.
Frey said that typically, healthcare systems place the responsibility for informing family members on patients themselves.
At NewYork-Presbyterian, sharing life-saving genetic information is "a joint responsibility between the healthcare team and our patients," she said. The care team gets patient consent to help identify at-risk relatives, provide educational resources, and assist family members in accessing testing.
By partnering directly with patients and their families, the team has increased testing rates among relatives from roughly 33% to 70% or more.
"If we can reach these relatives and give them this information before a cancer diagnosis, that's how we're going to impact lives saved," Frey said.
Supporting the whole patient
NewYork-Presbyterian is also among the first cancer genetics programs to include a social worker specializing in cancer genetics who meets with every patient to help them navigate the anxiety, uncertainty, family dynamics, and decisions that often accompany a genetic diagnosis.
"We're paying attention not just to the results we see in their medical record, but really to the whole human," Frey said.
Frey sees programs like this as part of a broader shift toward tailoring cancer prevention to individual risk rather than following a one-size-fits-all model.
"Information is power," she said. "This is information that can translate into cancer prevention."
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This sponsored post was created by BI Studios with NewYork-Presbyterian.
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