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Purpose: Women with breast cancer, who are found to be BRCA1/2 mutation carriers, have a high risk of ovarian cancer and metachronous breast cancer. Treatment-focused genetic testing (TFGT), offered around the time of diagnosis, allows genetic test results to inform surgical treatment decisions. However, concern has been raised that offering TFGT at this time may overly increase psychological burden. This study aimed to qualitatively explore women's attitudes and experiences of TFGT., Methods: Women who had been diagnosed with breast cancer at age 50 years or less undertook a semi-structured telephone interview (n = 26). The sample included women who had been offered TFGT, based on family history and/or other risk criteria (n = 14), and women who had been diagnosed within the past 6-12 months and had not been offered TFGT (n = 12). Interviews explored women's attitudes towards TFGT, perceived benefits and disadvantages, implications of TFGT and impact on surgical decision making. Interviews were transcribed verbatim and thematically analysed., Results: Women expressed positive attitudes towards TFGT and felt it was highly relevant to their surgical decision making. They did not feel that an offer of TFGT shortly after, or at the time of diagnosis, added undue psychological burden. The majority of women interviewed felt that TFGT should be incorporated into standard clinical care., Conclusions: TFGT is viewed favourably by women newly diagnosed with breast cancer. Future randomized controlled trials are needed to examine the long-term impact of TFGT. We conclude that an offer of TFGT is not perceived as 'too much, too soon' by relevant patients.

Alzheimer disease (AD) is a genetically heterogenous disorder; in rare cases autosomal dominantly inherited mutations typically cause early-onset familial AD (EOAD), whereas the risk for late-onset AD (LOAD) is generally modulated by genetic variants with relatively low penetrance but high prevalence, with variants in apolipoprotein E (APOE) being a firmly established risk factor. This article presents an overview of the current literature on the psychological and behavioral impact of genetic testing for AD. The few studies available for presymptomatic testing for EOAD showed that only a very small proportion of individuals had poor psychological outcomes as a result. Initial interest in testing for EOAD decreases significantly after identification of a specific mutation in a kindred, suggesting that interest and potential for knowledge may not translate into actual testing uptake. The majority of individuals from both the general population and those with a family history of AD had positive attitudes towards, and were interested in, susceptibility testing for APOE. Motivations for genetic testing included to provide information for future planning and to learn about one's own and one's children's risks of developing AD. Although susceptibility testing for APOE genotype is not currently recommended due to the lack of clinical utility, this review demonstrates that there is interest in testing and no obvious adverse psychological effects to those who have been tested.

Purpose/objectives: To identify young women's information preferences regarding treatment-focused genetic testing (TFGT) and to develop and evaluate a novel educational resource., Research Approach: Qualitative interview study and pilot testing of a novel resource., Setting: Two familial cancer services and one outpatient oncology clinic in Sydney and Melbourne, Australia., Participants: 26 women with breast cancer aged 50 years and younger who either previously had TFGT (n = 14) or had a diagnosis of breast cancer within the previous 6-12 months., Methodologic Approach: Participants were asked about their views of TFGT in semistructured interviews. A brief pamphlet on TFGT then was developed and pilot tested with 17 of the 26 women., Main Research Variables: Women's attitudes and preferences with regard to timing, mode of delivery, and amount and format of information regarding TFGT were explored., Findings: Most women wanted to be informed about TFGT at or around the time of their cancer diagnosis via a face-to-face consultation. No clear preference existed for which type of healthcare professional should provide information on TFGT. Brief written information about TFGT was viewed as important supporting material. The educational resource developed was well received., Conclusions: The potential for more widespread TFGT in the future indicates a need for patient educational materials that enable women to make informed choices about TFGT. This pilot study has provided timely initial evidence on the efficacy of a brief written resource in preparing women for decision making about TFGT., Interpretation: The resource developed in this study will assist oncology nurses to make important genetic risk information available to women newly diagnosed with breast cancer at a stressful time.