Acceptance of Genetic Counseling and Testing in a Hospital‐Based Series of Patients with Gynecological Cancer

Abstract

Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients with hereditary cancers are missed by following this strategy. We determined acceptance and mutation detection rate of offering genetic counseling and testing to unselected EC and OC patients. Therefore, in 2007, EC and OC patients were invited for genetic counseling and testing. Patients were asked for their reasons to accept or decline. Nineteen out of fifty-two EC patients (36 %) and twenty-two out of thirty-five OC patients (63 %) accepted genetic counseling, mainly to receive risk assessment for themselves and relatives. Counseling was declined mainly because patients did not want more tests or had no relatives for whom it was relevant. Eighteen out of nineteen EC patients (95 %) and twenty out of twenty-two OC patients (91 %) underwent genetic testing. One EC patient carried an MSH6 mutation (mutation detection rate: 6 %). BRCA1/2 mutations were found in two out of twenty OC patients (10 %). Eleven patients (29 %) received surveillance recommendations for themselves and their relatives. Finally, family history recorded by the gynecologist was compared to that taken by the clinical geneticist. Gynecologists reported family history in ten out of forty-one participants (24 %). In conclusion, genetic counseling and testing are acceptable to patients with OC and/or EC. The 10 % BRCA1/2 mutation detection rate and underreporting of family history by gynecologists warrant referral for genetic counseling for all OC patients, followed by BRCA1/2 testing if indicated. We recommend that microsatellite instability and immunohistochemical analysis be performed in all EC patients, followed by genetic counseling if appropriate. These strategies will lead to better cancer prevention in gynecological cancer patients and their relatives.

Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for lynch syndrome

“…Previous studies assessing other hereditary cancer syndromes have suggested under-referral for Lynch syndrome genetic counseling versus BRCA1/2 genetic testing in patients with gynecologic cancer (20). Additionally, the uptake of genetic counseling has been shown to be lower in patients with EC versus those with ovarian cancer (21). While there are significant differences between Lynch syndrome and hereditary breast and ovarian cancer syndrome, these studies do suggest that gender may impact genetic counseling referral rates through differences in the syndrome itself or the organ primarily affected by the syndrome.…”

Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review

“…Discussion of genetics referral or genetic testing with a health care provider was significantly associated with GC uptake in two studies (22,41). An extended period between cancer treatment and referral led to lower GC uptake in one study (24); however there was no significant association in two other studies (40,47). Breast cancer patients who indicated their referral was poorly timed in relation to their cancer treatment were significantly less likely to attend GC in one study (42), though referral timing was not associated with uptake in another study (16).…”

“…Tumour stage, histological subtype, tumour detection method, node status and histopathology were inconsistently measured and, for the most part, not associated with GC uptake (16,19,23,40,42,47). The exceptions to this were: significantly higher uptake among women with a smaller tumour size in one study (23); and significantly higher uptake among women with serous ovarian cancer or stage III/IV cancer compared with other histological subtypes or stage I/II cancer in another (16).…”

Implementation and outcomes of telephone disclosure of clinical BRCA1/2 test results

“…negative for a known clinically significant mutation in the family) and 2 received a Variant of Uncertain Significance. This distribution of test results is reflective of results in clinical populations undergoing BRCA1/2 testing [16,17,39,40]. …”