When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling.

Clinical Snapshot

Key Findings

• P Value: p = 0.017

• Effect Size: 40.0% (48/120) completion in telephone-contacted patients vs. 22.0% (13/59) in non-contacted patients; absolute risk difference of approximately 18 percentage points; approximate relative risk 1.82

• Primary Outcome: Genetic testing completion rate at 3-month follow-up among patients who had not scheduled testing after telemedicine cancer risk assessment

• Nnt Or Sensitivity: Number needed to contact (NNC) to achieve one additional testing completion: approximately 6 patients (1/0.18 ≈ 5.6); 67.0% contact success rate among the target population; 81.7% of contacted patients confirmed ongoing interest in testing

• Confidence Interval: Not reported

Clinical Application

The GENE CALL telephone reminder model is low-cost, low-technology, and feasible within existing genetic counselling programme infrastructure. It requires dedicated staff time for outreach calls but does not require new technology or significant capital investment. The intervention is scalable and could be integrated into existing patient navigation workflows. Standardisation of the call protocol would be essential before broader implementation. Australian hereditary cancer genetics services, including state-based Familial Cancer Centres (FCCs) and private genetic counselling providers, have substantially expanded telemedicine delivery following COVID-19 and in response to geographic access barriers in rural and remote areas. The gap between counselling and testing completion is likely to be at least as pronounced in Australia given longer distances to specimen collection sites. Genetic testing for hereditary cancer syndromes (e.g., BRCA1/2, Lynch syndrome) is partially subsidised under the Medicare Benefits Schedule (MBS), though access criteria and out-of-pocket costs vary. The TGA does not regulate genetic counselling services directly, but NPAAC and RCPA standards govern laboratory testing. RACGP guidelines on familial cancer risk assessment support proactive follow-up of at-risk patients. A structured telephone navigation programme analogous to GENE CALL would align with RACGP and Cancer Australia recommendations for improving equity of access to genetic services, particularly for Aboriginal and Torres Strait Islander communities and patients in regional areas. Prospective evaluation within the Australian healthcare context, including MBS-funded telehealth item numbers, would be warranted before widespread adoption. Adult patients who have undergone telemedicine-based hereditary cancer genetic counselling, expressed interest in genetic testing, but have not proceeded to specimen collection — particularly relevant in high-volume cancer genetics programmes with significant virtual service delivery

Abstract

Telemedicine has broadened access to genetic counseling while maintaining high levels of patient satisfaction. However, emerging evidence suggests lower completion rates of genetic testing following virtual visits compared with in-person encounters. This study evaluated genetic testing completion rates among patients who underwent cancer risk assessment via telemedicine and assessed the effect of a structured follow-up telephone reminder on genetic testing completion. We conducted a retrospective review of a quality improvement initiative - Genetic Engagement via Navigation and Encouragement (GENE CALL) - designed to address incomplete genetic testing following telemedicine counseling. The study included all patients who underwent virtual cancer risk assessment between September 2023 and July 2024 at a single urban academic cancer genetics program. Patients who expressed interest in genetic testing but had not scheduled specimen collection were contacted by telephone as a reminder. During the call, patients were asked about ongoing interest in testing and barriers to scheduling; they were also offered assistance completing specimen collection. Among 647 patients evaluated via telemedicine, 469 (72.5%) expressed interest in genetic testing. Of these, 290 (61.8%) had scheduled or completed testing, while 179 (38.2%) had not. Among those who had not scheduled testing, 120 (67.0%) were successfully reached by telephone, and 98 (81.7%) confirmed ongoing interest in completing testing. At 3-month follow-up, 48 (40.0%) of the 120 contacted patients had completed testing, compared with 13 (22.0%) of 59 patients who were not reached (p = 0.017). Telephone follow-up is an effective strategy to improve genetic testing completion after virtual counseling.

References

1. 1.Murray, I. R., Ahsan, M. D., Mitchell, L., Gioia, S., Primiano, M., Ozarowski, A. L., Karimaghaie, T., Lopez, S., Sharaf, R. N., & Frey, M. K. (2026). When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling. Familial Cancer. Advance online publication. PubMed ID: 42348011.