None-uptake of genetic counselling for patients with suspected Lynch Syndrome identified by reflex testing: Half due to none-referral and a half due to none uptake after referral

Zohar Levi1,2, Hila Bruck3, Inbal Barnes Kedar1, Atalia Tuval2, Maya Ahroni1, Alex Vilkin1, Rachel Gingold1,2, Yaron Niv2, Iris Dotan1,2, Yael Goldberg1,2

1Rabin Medical Center, Petach-Tikva, Israel. 2Tel Aviv University, Tel-Aviv, Israel. 3Hadassha School of Medicine, Jerusalem, Israel


Objective: Reflex tumour testing to identify Lynch Syndrome (LS) has been adopted by leading medical centres worldwide. The hallmark of reflex testing is that subjects with mismatch repair (MMR) deficient proteins or microsatellite instability (MSI) should undergo further genetic counselling (GC). The primary end-point was the rate of none-uptake of GC and reasons for none-referral.

Methods: A comprehensive chart review of colorectal cancer (CRC) patients that participated in the reflex tumor testing program in 2015-2016 at Rabin Medical Center, a tertiary academic referral center. Subjects with loss of MMR proteins, with the exclusion of BRAF V600E mutant or a known carrier, were defined as subjects that with suspected LS.

 Results: Out of 558 patients, 70 (12.5%) had a loss of one or more of the MMR proteins, and finally, 57 (10.2%) subjects were defined as suspected LS. None-uptake observed in 19/57 (33.3%) patients with suspected LS; in 10 cases ( 52.6%) due to none-referral by a physician and in 9 cases /19 (47.4%) due to none-uptake after referral. Surgeons were the least likely to refer (69.6%), followed by oncologists (30.4%) and gastroenterologists (13.6), p<0.001.

Conclusions: None-uptake of GC was evident in the third of the patients – half due to none-referral and a half due to none-uptake after referral. Referral practice by surgeons was extremely low. Our findings suggest that physician education (mostly the surgeons and oncologists) and easing access to GC, possibly by program curator of each subject with suspected LS identified by reflex testing is warranted.