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Downstream clinical services resulting from cancer genetic counseling

Poster presented at the 2021 National Society of Genetic Counselors Annual Conference

Authors: Colleen Caleshu, Callan Russell, Gina Koebke, Lindsay McNeely, Ashley V. Daley, Jill Davies, Kiley Johnson, Mark Sylvester

Background: Cancer genetic counseling often leads to additional care, including increased cancer surveillance and risk-reducing surgeries. These services can be a source of revenue for hospitals, which can help cover the cost of a cancer genetics program. However, the additional services resulting from cancer genetic counseling have not been quantified.

Aim: We sought to quantify the services a health system can expect because of guideline-based assessments and recommendations made by cancer genetic counselors (GC). We focused on services occurring in the year following a genetics evaluation.

Methods: We performed a retrospective chart review of consecutive post-test oncology cases from our telehealth genetic counseling practice. We assessed what additional care was recommended due to the genetics evaluation, beyond care the patient was already getting. We combined these data with published data on adherence.

Results: Most (404/460 (87.8%)) cases were female and the mean age was 51.2. Half (232/460 (50.4%)) had a personal history of cancer. 130/460 (28.3%) had positive genetic test results, including 29/460 (6.3%) BRCA1/2, 34/460 (7.4%) CHEK2 or ATM, 9/460 (2.0%) PALB2, 16/460 (3.5%) Lynch, and 42/460 (9.1%) other genes. Additional care, prompted by the genetics evaluation, was indicated for 202/460 (43.9%) patients. The additional care stemmed from a positive genetic test in 111/202 (55.0%) cases, an elevated lifetime breast cancer risk (Tyrer-Cuzick v8.0b) in 73/202 (36.1%), and a family history of other cancer in 14/202 (6.9%). Published adherence rates, averaged across studies, included 60.3% for mammograms, 24.5% for breast MRI, 26.8% for mastectomy, 41.8%for oophorectomy, 72.6% for colonoscopy, 63.1% for endometrial biopsy, 31.3% for hysterectomy, and 75% for upper endoscopy. Factoring in adherence rates, downstream services for these patients occurring in the year after the genetics evaluation were estimated to include 25.9 breast MRIs, 50.1 mammograms, 8.6 mastectomies, 12.1oophorectomies, 47.9 colonoscopies, 3.1 hysterectomies, 6.3 endometrial biopsies, and 5.3 upper endoscopies.

Conclusions: Cancer genetic counseling leads to considerable downstream services including both risk-reducing surgeries and increased cancer screening. Future studies should estimate revenue associated with these downstream services and also account for the additional services that are likely to co-occur with the specific screening procedures and surgeries recommended in national guidelines, such as clinic visits, biopsies, and hospital stays.

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