Veronica F. Quinn

Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial

Purpose:Increasingly, women newly diagnosed with breast cancer are being offered treatment-focused genetic testing (TFGT). As the demand for TFGT increases, streamlined methods of genetic education are needed.Methods:In this noninferiority trial, women aged <50 years with either a strong family history (FH+) or other features suggestive of a germ-line mutation (FH−) were randomized before definitive breast cancer surgery to receive TFGT education either as brief written materials (intervention group (IG)) or during a genetic counseling session at a familial cancer clinic (usual-care group (UCG)). Women completed self-report questionnaires at four time points over 12 months.Results:A total of 135 women were included in the analysis, all of whom opted for TFGT. Decisional conflict about TFGT choice (primary outcome) was not inferior in the IG compared with the UCG (noninferiority margin of −10; mean difference = 2.45; 95% confidence interval −2.87–7.76; P = 0.36). Costs per woman counseled in the IG were significantly lower (AUD

Acceptability of, and Information Needs Regarding, Next-Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study

89) compared with the UCG (AUD

When knowledge of a heritable gene mutation comes out of the blue: Treatment-focused genetic testing in women newly diagnosed with breast cancer

173; t(115) = 6.02; P < 0.001).Conclusion:A streamlined model of educating women newly diagnosed with breast cancer about TFGT seems to be a cost-effective way of delivering education while ensuring that women feel informed and supported in their decision making, thus freeing resources for other women to access TFGT.Genet Med 19 4, 448–456.

Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

Next generation sequencing (NGS) for patients at risk of hereditary cancer syndromes can also identify non-cancer related mutations, as well as variants of unknown significance. This study aimed to determine what benefits and shortcomings patients perceive in relation to NGS, as well as their interest and information preferences in regards to such testing. Eligible patients had previously received inconclusive results from clinical mutation testing for cancer susceptibility. Semi-structured telephone interviews were subjected to qualitative analysis guided by the approach developed by Miles and Huberman. The majority of the 19 participants reported they would be interested in panel/genomic testing. Advantages identified included that it would enable better preparation and allow implementation of individualized preventative strategies, with few disadvantages mentioned. Almost all participants said they would want all results, not just those related to their previous diagnosis. Participants felt that a face-to-face discussion supplemented by an information booklet would be the best way to convey information and achieve informed consent. All participants wanted their information stored and reviewed in accordance with new developments. Although the findings indicate strong interest among these individuals, it seems that the consent process, and the interpretation and communication of results will be areas that will require revision to meet the needs of patients.

Family history-taking practices and genetic confidence in primary and tertiary care providers for childhood cancer survivors

Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient’s age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.

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

This review assessed parents’ attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents’ attitudes toward childhood genetic testing. We searched Medline, Medline In‐Process, EMBASE, PsycINFO, Social Work Abstracts and CINAHL. We screened 945 abstracts and identified 21 studies representing the views of 3934 parents. Parents reported largely positive attitudes toward childhood genetic testing across different genetic tests with varying medical utility. Parents perceived a range of advantages and disadvantages of childhood genetic testing. Childhood genetic testing was viewed by most as beneficial. Parents’ education level, genetic status, sex and sociodemographic status were associated with reported attitudes. This yielded some conflicting findings, indicating the need for further research. Genetic counseling remains essential to support this population in making well‐informed decisions. Targeted interventions tailored to specific families with different sociodemographic characteristics may be useful. Further research on the long‐term impact of childhood genetic testing on families is warranted.

Protocol for the avatar acceptability study: a multiperspective cross-sectional study evaluating the acceptability of using patient-derived xenografts to guide personalised cancer care in Australia and New Zealand

There is growing impetus for increased genetic screening in childhood cancer survivors. Family history‐taking is a critical first step in determining survivors’ suitability. However, the family history‐taking practices of providers of pediatric oncology survivorship care and the confidence of these providers to discuss cancer risks to relatives are unknown.

Distance-delivered physical activity interventions for childhood cancer survivors: A systematic review and meta-analysis

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.

Family Communication, Risk Perception and Cancer Knowledge of Young Adults from BRCA1/2 Families: a Systematic Review

Introduction Patient-derived xenografts (PDXs) have the potential to transform personalised cancer care, however, little is known about the acceptability of using PDXs to guide treatment decision-making. Given that patient and community preferences can influence satisfaction with care as well as the success of new technologies, we will evaluate the acceptability of PDXs in individuals affected by cancer and community comparisons. Methods and analysis This comparative cross-sectional study will recruit 323 individuals affected by cancer (cancer survivors (of childhood or adult cancer) and parents of childhood cancer survivors) and 323 community comparisons (adults and parents). We will collect data via structured interviews and questionnaires. To determine the acceptability of PDXs, we will assess five domains: willingness to use PDXs when/if diagnosed with cancer, perceived advantages and disadvantages of PDXs, maximum acceptable out-of-pocket costs per patient, maximum acceptable turnaround time to receive results and maximum acceptable number of mice sacrificed per patient. The primary endpoint will be participants’ decisional balance ratio (calculated as participants’ advantages ratings divided by perceived disadvantages ratings). Ethics and dissemination The study protocol has been approved by the South Eastern Sydney Local Health District Human Research Ethics Committee (HREC:12/173) and UNSW Sydney (HC15773). The results will be disseminated in peer-reviewed journals and at scientific conferences. A lay summary will be published on the Behavioural Sciences Unit website.

Preferences Regarding Targeted Education and Risk Assessment in People with a Family History of Major Depressive Disorder

This review aimed to determine the feasibility of distance-delivered physical activity (PA) interventions in childhood cancer survivors (CCS), and assess the effect on PA levels, and physical, physiological and psychological outcomes. We searched electronic databases until May 2016, including studies following intensive treatment. Meta-analyses were conducted on randomized controlled trials. We calculated the effect of interventions on PA levels and physical, physiological and psychological health outcomes. Thirteen studies (n=270 participants) were included in the systematic review and four (n=102 participants) in the meta-analysis. Most studies used telephone to deliver interventions with contact (1/day-1/month), duration (2 weeks-1year) and timing (maintenance therapy->20years following intensive treatment) varying between interventions. Interventions yielded a mean recruitment rate=64%, retention rate=85% and adherence rate=88%. Interventions did not increase PA levels (p=0.092), but had a positive effect on physical function (p=0.008) and psychological outcomes (p=0.006). Distance-delivered PA interventions are feasible in CCS. Despite not increasing PA levels, participation may improve physical and psychological health; however, larger randomized controlled trials are warranted.