What helps Lynch Syndrome to cope with consequences of genetic diagnosis of LS. Results of a semi-structured interview

Atalia Tuval1, Inbal Barnes Kedar2, Maya Aharoni3, Iris Dotan3,4, Yael Goldberg2, Zohar Levi3,4

1Occupational Health Department, School of Public Health, Sackler School of Medicine, Tel Aviv University, , Tel Aviv, Israel. 2Genetic Department, Rabin Medical Center, Petach Tikva, Israel. 3Division of Gastroenterology, Rabin Medical Center, Petach Tikva, Israel. 4Tel Aviv University, Tel Aviv, Israel

Abstract

Objective: Bearing a genetic diagnosis of Lynch Syndrome (LS) is associated with anxiety, fear of cancer, and reduced optimism. LS patients are also required to schedule multiple medical examinations and refer their first degree relatives to genetic testing. We aimed to evaluate which factors our LS patients identify as most supportive. 

Methods: We performed a thematic analysis of semi-structured face-to-face interviews with LS subjects. The interviews were undertaken by a trained organizational consultant and were audio recorded and transcribed.

Results: 21 patients were included (age 50 years ±11.2, 55% women, 55% cancer survivors). The most helping resources were a supportive family and supportive and well-informed primary care physician.  At the family arena, supportive siblings were described as preferable because it is clean of the guilt or burden that overshadows the relationships with parents or children, and lacks the distance and authoritarian contacts with the medical staff and other formal caregivers. Participants described physicians who didn’t know what LS is, avoided from sending to regular medical examinations that are part of the LS surveillance protocol, carriers felt that they have to be their case managers and to take a proactive approach towards their genetic mutation consequences instead of their physician.

Conclusions: Supportive family (especially siblings) and supportive and informed family physicians are the most critical factors that help patients to cope with consequences of genetic diagnosis of LS. Our findings suggest that supporting the family as a unit as well as training of primary care physicians might be beneficial.

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