Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history

Bettina Meiser*, Veronica F. Quinn, Gillian Mitchell, Kathy Tucker, Kaaren J. Watts, Belinda Rahman, Michelle Peate, Christobel Saunders, Elizabeth Geelhoed, Margaret Gleeson, Kristine Barlow-Stewart, Michael Field, Marion Harris, Yoland C. Antill, Rachel Susman, Michael T. Bowen, Llew Mills, Judy Kirk

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


In patients with early breast cancer, personal and tumour characteristics other than family history are increasingly used to prompt genetic testing to guide women's cancer management (treatment-focused genetic testing, 'TFGT'). Women without a known strong family history of breast and/or ovarian may be more vulnerable to psychological sequelae arising from TFGT. We compared the impact of TFGT in women with (FH+) and without (FH-) a strong family history on psychological adjustment and surgical decisions. Women aged <50 years with high-risk features were offered TFGT before definitive breast cancer surgery and completed self-report questionnaires at four time points over 12 months. All 128 women opted for TFGT. TFGT identified 18 carriers of a disease-causing variant (50.0% FH+) and 110 non-carriers (59.1% FH+). There were no differences based on family history in bilateral mastectomy (BM) uptake, p =.190, or uptake of risk-reducing bilateral salpingo-oophorectomy (RRBSO), p =.093. FH- women had lower decreases in anxiety a year after diagnosis, p =.011, and regret regarding their decision whether to undergo BM, p =.022, or RRBSO, p =.016 than FH + women. FH- carriers reported significantly higher regret regarding their TFGT choice (p =.024) and test-related distress (p =.012) than FH + carriers, but this regret/distress could not be attributed to a concern regarding a possible worse prognosis. These findings indicate that FH- women may require additional counselling to facilitate informed decisions. Carriers without a family history may require additional follow-up counselling to facilitate psychological adjustment to their positive variant results, extra support in making surgical decisions, and counselling about how best to communicate results to family members.

Original languageEnglish
Pages (from-to)972-983
Number of pages12
JournalEuropean Journal of Human Genetics
Issue number7
Publication statusPublished - 30 Mar 2018
Externally publishedYes


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