Identifying and empowering high-risk cancer patients

Matthew J. McKinley, MD, ProHEALTH Care Associates, New York


Lake Success Gastroenterology is a specialty practice at ProHEALTH Care Associates, part of Optum. Located in Lake Success, New York, the gastrointestinal (GI) practice sees about 25,000 patients annually. 

In 2017, our GI practice implemented software into our clinical workflow to help identify more high-risk patients before a cancer diagnosis. This program screens all patients evaluated in the office setting for a variety of reasons including those who are scheduled for colon cancer screening. 

At the office point of care, the electronic survey assesses for colon, breast, and ovarian risk factors. By implementing the program at the point of care, the GI practice learned that there is a significant patient population in need of hereditary cancer risk assessment in routine care.  

We analyzed results of the screening at one year and presented the data at the Annual Meeting of the American College of Gastroenterology in Philadelphia in October 2018.

Horizontal Rule

Individualizing cancer screening

There is no denying it — routine screening is the best way to catch cancer early, saving lives and reducing morbidity. Screening schedules, however effective, are statistical tools that view cancer as a disease that is more likely to occur as we age. 

Hence, colonoscopy screening begins as we pass midlife at age 50, mammography at 45. 

This schedule suits the majority of people. However, it allows for cancer risk-associated genetic mutations to exist, unidentified, in some patients. 

Perhaps a patient is vigilant about well-woman exams and knows her increased genetic risk for breast cancer, but remains in the dark when it comes to colon or ovarian cancer. 


In the case of cancers with known hereditary risk, how can clinicians work across specialties to identify and equip high-risk patients with an individualized plan? 

Point of care heredity screening

As an experiment in broadening care, our gastroenterology practice studied outcomes of a broader hereditary screening. 

Rather than only asking our patients about their family history of colon and other GI cancers, we seize the opportunity to ask about family history of hereditary risk for breast and ovarian cancer as well. 

Completed electronically with a tablet device in our waiting room, this dedicated effort becomes a trove of information that can better guide care.

Incorporating hereditary cancer risk assessment into routine care

After finalizing our yearlong 2017–2018 study, we were pleased to offer positive evidence that broader screenings are administratively possible and successful at finding our high-risk cancer patients across specialties.


Digital support

A partnership with CancerIQ helped to integrate a digital screening survey that patients could complete on an electronic tablet in the waiting room prior to their appointment. 

Once the patient survey was completed, the software automatically evaluated the patient’s risk according to the latest National Comprehensive Cancer Network (NCCN) guidelines for both Lynch syndrome and hereditary breast and ovarian cancer (HBOC). 

This process helped overcome the time barrier.

If a patient was flagged for being at increased risk for hereditary cancer, further evaluation with possible genetic panel testing was offered.

Immediate access to testing

Our practice incorporated a same-day genetic testing model to help mitigate the no-show rates that are common with follow-up appointments scheduled for a later time and day. 

In this workflow, patients who met criteria were counseled by their doctor and advanced practice clinician (APC) and offered testing at the point of care. Patients were similarly followed up by their physicians and the APC for the results disclosure. 

In addition, referral to a genetic counselor was offered as an option as soon as the assessment indicated an increased risk of hereditary cancer.

Ease of access, more patients identified

By offering genetic evaluation as part of the routine appointment process, 80 percent of patients interested in testing actually followed through. 

This is a remarkable improvement in accessing genetic services compared with 16 percent when patients were referred to an off-site provider and 30 percent when patients were scheduled for testing on another day.

The study also saw an increase of more than 2.5 times the rate for the detection of deleterious mutations associated with hereditary colon cancer by using both HBOC and Lynch syndrome criteria. 

  • 15 (60 percent) were from patients who met HBOC criteria
  • 10 (40 percent) were from patients who met Lynch syndrome criteria

HBOC is associated with germline mutations that can also have GI implications, and this study showed nearly 95 percent of these mutations had GI-related cancer risks. 

This is critical to the management of our patients and demonstrated the importance of a broader hereditary cancer risk testing criteria.

In all, 29 deleterious mutations were found during this one-year study. Though the average patient age of mutation identification was 53 years old, 11 of the 29 patients were under the age of 50. 

In addition to identifying more high-risk patients at an early age, we are able to suggest improved quality of care through a more individualized screening plan. By catching high-risk cancer patients early, treatment options are favorable and lives will be saved.

By using NCCN guidelines for both HBOC and Lynch syndrome, the process was able to identify 2.5 times the number of patients with an increased risk of a hereditary cancer syndrome than would have been detected if we had used GI criteria only for assessment. 

This, in turn, allows each provider to better manage cancer risk in their population.*

Horizontal Rule

*GI Practice Double Yield of GI Cancer-Related Mutations by Looking Beyond GI Cancer. Gastroenterology & Endoscopy News. June 7, 2019. 

This publication is informational and for educational purposes for practitioners only. The views and opinions expressed herein are those of the authors and do not necessarily represent the views of Optum Care. The views and opinions expressed may change without notice. 

Icon Picker V2

Stay connected on the latest insights.