Evaluation of impact of pre-test counselling on uptake of germline testing and assessment on barriers to genetic testing in women with endometrial cancer and her first-degree relatives

Women with endometrial cancer who satisfy the inclusion and exclusion criteria will be recruited after the written consent is obtained. The retrospective cohort will be recruited by screening the data of endometrial cancer patients enrolled at gynaecology and hereditary cancer clinics from January 2020 to June 2025. The women with endometrial cancer having deficient mis-match repair (dMMR on immunohistochemistry (IHC) and women with pMMR who are satisfying NCCN Version 4.2024 and/or PREMM 5 algorithm will be contacted telephonically and invited for genetic counselling. The prospective cohort will be included from July 2025, and endometrial cancer patients with dMMR positivity and women with pMMR who are satisfying NCCN Version 4.2024 and/or PREMM 5 algorithm will be enrolled in the study after the consent. The study objectives will be explained in detail at the time of genetic counselling, and after obtaining written consent, they will be included in the study. A detailed history will be taken, including demographic details, presenting complaints, menstrual history, obstetric history, and other gynaecological history, and details of any significant medical, surgical, or family history or personal and family history of malignancy. Each participant will be given an appointment for their Genetic counselling session after consent. The study researcher will do the genetic counselling session, and the patient may be alone or accompanied by an attendant during the session. The genetic counselling session is described briefly below. After the conclusion of the genetic counselling session, participants’ Stress, Anxiety, and Depression (DASS-21) scores will be evaluated. Additionally, a questionnaire will be administered to document their reasons for accepting or declining genetic testing. The DASS-21 score will be reassessed three months after the counselling session, and satisfaction with decision score (SWD) will be calculated three months after the s session. Those women undergoing germline testing will undergo detailed post-test counselling, which will include implications of having positive/negative/inconclusive test on their future prognosis, treatment and the effect it has on their families. The patients with favorable pathogenic germline mutations will be explained in detail about the increased risk of malignancies in their first-degree relatives (FDRs) and will be requested to be informed about the need for genetic counselling and testing. The women who refuse to undergo testing will be evaluated for barriers through a questionnaire. The proportion of first-degree relatives who accept genetic counselling will be documented in the study proforma. Those who consent to counselling will also be given the scheduled appointment for a genetic counselling session, and the study researchers will also counsel them. Subsequently, post-genetic counselling regarding the necessity for germline testing will be explained, and the testing uptake will be recorded. The barriers to germline testing will be assessed for FDRs by the questionnaire.