Leveraging a Longitudinal Genomics Platform to Recontact Patients Eligible for Hereditary Cancer Genetic Testing

Introduction

Genetic testing (GT) for hereditary cancer risk is increasingly accessible due to reduced testing costs, improved insurance coverage, expanded guidelines for testing, and greater public awareness. However, many patients still miss the GT opportunity due to lack of follow-up from providers and/or barriers (e.g., cost, time) present at the time eligibility for testing was determined.

At a large, public GT company, only about 40% of patients found eligible via an online questionnaire actually complete testing. In the remaining 60%, little to no follow-up occurs. To increase GT uptake in a scalable and patient-centered way, the GT company partnered with a genetics software platform to pilot a digital recontact workflow.

Methods

Select clinics utilizing the GT company offered their patients an online risk assessment tool in the waiting room. This tool captures personal health and family cancer history to determine eligibility for GT. Between May 2024 and January 2025, eligible patients from 15 clinics were either consented or prompted to contact the GT company's patient education team if they had additional questions.

For the initial recontact, eligible patients who did not complete GT were sent the digital educational outreach via SMS or email 3 months following the start of the pilot program. Thereafter, eligible patients received the digital outreach 2–3 weeks post online tool completion. Patients received up to 3 reminders. Following completion of an education module reviewing testing options, patients could either initiate testing or document their decision to decline. Patients who declined were asked reasons for declining.

Results

A total of 3,599 GT-eligible patients who had not completed GT were sent a link via SMS or email, 2,692/3,599 (75%) opened the link, and 1,758/2,692 (65%) completed the digital experience. 1,014/2,692 (58%) indicated interest in testing, 762/1,014 (75%) had orders placed and 460/762 (60%) submitted a sample by the end of the pilot. Overall, 12.7% (460/3,599) of patients sent a link subsequently completed GT, an increase of approximately 30% compared to the proportion of patients who typically complete GT.

Among the individuals completing GT was a 27-year-old female negative for germline pathogenic mutations who had an elevated combined polygenic and Tyrer-Cuzick lifetime risk estimate of 31%, prompting baseline imaging that detected a stage 1 breast cancer.

Among the 744 (42%) patients who declined GT after receiving the digital reminder, cost (119, 16%) and “not ready yet” (208, 28%) were the most commonly cited reasons, with “too busy” (12%), “won't impact my care” (7%), “I don't want to know” (5%), “privacy” (5%), “still have questions” (3%), “I do enough cancer screening” (2%), and “other” (17%) following.

Conclusion

Digital recontact is an effective and scalable approach to increase GT uptake among eligible patients. Given the success of this pilot, the digital recontact workflow is being implemented in several additional clinics. Iterative improvements to the digital outreach and workflow are underway to improve appropriate GT uptake on initial outreach, reducing the need for multiple recontact attempts.