Center for Genetics Education

Sydney, Australia

Center for Genetics Education

Sydney, Australia
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Smit A.K.,University of Sydney | Espinoza D.,University of Sydney | Newson A.J.,University of Sydney | Morton R.L.,University of Sydney | And 14 more authors.
Cancer Epidemiology Biomarkers and Prevention | Year: 2017

Background: Communication of personalized melanoma genomic risk information may improve melanoma prevention behaviors. Methods: We evaluated the feasibility and acceptability of communicating personalized genomic risk of melanoma to the public and its preliminary impact on behaviors and psychosocial outcomes. One hundred eighteen people aged 22 to 69 years provided a saliva sample and were randomized to the control (nonpersonalized educational materials) or intervention (personalized booklet presentingmelanomagenomic risk as absolute andrelative risks and a risk category based on variants in 21 genes, telephonebased genetic counseling, and nonpersonalized educational materials). Intention-to-treat analyses overall and by-risk category were conducted using ANCOVA adjusted for baseline values. Results: Consent to participate was 41%, 99% were successfully genotyped, and 92% completed 3-month follow-up. Intervention participants reported high satisfaction with the personalized booklet (mean = 8.6, SD = 1.6; on a 0-10 scale) and genetic counseling (mean = 8.1, SD = 2.2). No significant behavioral effects at 3-month follow-up were identified between intervention and control groups overall: objectivelymeasured standard erythemal doses per day [-16%; 95% confidence interval (CI), -43% to 24%] and sun protection index (0.05; 95% CI, -0.07 to 0.18). There was increasedconfidence identifying melanomaat 3months (0.40;95% CI, 0.10-0.69). Stratified by risk category, effect sizes for intentional tanning and some individual sun protection items appeared stronger for the average-risk group. There were no appreciable group differences in skin cancer-related worry or psychologic distress. Conclusions: Our results demonstrate feasibility and acceptability of providing personalized genomic risk of melanoma to the public. Impact: Genomic risk information has potential as a melanoma prevention strategy. © 2016 American Association for Cancer Research.


Lobb E.A.,Calvary Health Care Sydney | Lobb E.A.,Edith Cowan University | Barlow-Stewart K.,Center for Genetics Education | Suthers G.,University of Adelaide | Hallowell N.,University of Edinburgh
Clinical Genetics | Year: 2010

There is accumulating evidence that women with breast cancer due to a familial BRCA1 or BRCA2 mutation benefit from specific surgical and chemotherapeutic treatment strategies. However, the rapid identification of such patients during the acute phase of treatment raises a number of issues. This study investigated Australian opinion leaders' views on the issues arising from such 'treatment-focused' genetic testing. Semi-structured interviews with 34 opinion leaders working in cancer genetics were undertaken. Interviewees acknowledged the introduction of treatment-focused DNA testing has the potential to positively transform the management of breast cancer patients, but were concerned that certain ethical and logistical issues have yet to be addressed. These include decision-making and consent, the familial nature of genetic information, and the management of genetics services within familial cancer clinics in the public hospital system in Australia. Service providers will need to have policies and strategies for managing the increased demand. It will also be necessary to include genetic counseling services within familial cancer clinics in the care pathway for newly diagnosed patients prior to any DNA testing to determine adjuvant treatment; such services may be more cost-effective than expecting surgeons and medical oncologists to fulfill this role. © 2009 John Wiley & Sons A/S.


Watts K.J.,Prince of Wales Hospital | Watts K.J.,University of New South Wales | Meiser B.,Prince of Wales Hospital | Meiser B.,University of New South Wales | And 65 more authors.
BMC Cancer | Year: 2012

Background: Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women's treatment choices - treatment-focused genetic testing 'TFGT' - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service.Design/methods: In this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years) are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a) an educational pamphlet about genetic testing (intervention) or (b) a genetic counseling appointment at a family cancer center (standard care). Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome);uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision making; and decision regret. A process-oriented retrospective online survey will examine health professionals' attitudes toward TFGT; a health economic analysis will determine the cost effectiveness of the intervention.Discussion: This trial will provide crucial information about the impact, efficiency and cost effectiveness of an educational pamphlet designed to inform younger women newly diagnosed with breast cancer about genetic testing. Issues regarding implementation of the trial are discussed.Trial registration: The study is registered with the Australian and New Zealand Clinical Trials Group (Registration no: ACTRN12610000502033). © 2012 Watts et al.; licensee BioMed Central Ltd.


Burcher S.,University of Sydney | Meiser B.,University of New South Wales | Mitchell G.,Familial Cancer Center | Mitchell G.,University of Melbourne | And 8 more authors.
Personalized Medicine | Year: 2013

Aim: This study explored the attitudes of oncology health professionals towards treatment-focused genetic testing (TFGT) for women newly diagnosed with breast cancer. Materials & methods: Members of several relevant medical organizations in Australia and New Zealand were invited via email to participate in an online survey. Results: A total of 149 respondents, including 40 surgeons, 46 oncologists and 63 breast care nurses, completed the online questionnaire. The majority of respondents believed that TFGT was useful for patient care (87.3%) and valuable for the treatment and management of breast cancer (90.6%). In multivariable analyses, breast care nurses were significantly more likely to agree that TFGT was useful for patient care and the treatment and management of breast cancer compared with oncologists and surgeons (= 0.30; 95% CI: 0.01-0.60; p = 0.045). Participants also agreed that TFGT has an impact on treatment decision-making (96.0%), uptake of bilateral mastectomy (98.7%) and uptake of risk-reducing salpingo-oophorectomy (98.0%) in women newly diagnosed with breast cancer. A slight preference towards surgeons (49.7%) as the best health professional to make the initial offer of TFGT was observed and the majority of respondents suggested the best time to offer TFGT was shortly after diagnosis, when the treatment plan is discussed. Conclusion: The findings suggest health professionals have positive attitudes towards TFGT. Future training programs focusing on teamwork models and guidelines specifying health professionals roles in regards to TFGT and follow-up management may be of benefit. © 2013 Future Medicine Ltd.


Karatas J.C.,University of Sydney | Barlow-Stewart K.,Center for Genetics Education | Meiser B.,University of New South Wales | Meiser B.,Prince of Wales Hospital | And 5 more authors.
Human Reproduction | Year: 2010

Background Women often enter preimplantation genetic diagnosis (PGD) treatment following traumatic reproductive and genetic histories, the detrimental psychological effects of which are known to be long lasting in some cases. In addition, attempting IVF with PGD requires an in-depth understanding of the aspects of the technology. The level of information that is required and retained by women entering treatment is important for clinicians to understand. To date, neither of these issues has been explored empirically. To address this, we assessed mood and information-seeking behavior in a sample of women entering PGD. Methods Fifty women entering PGD treatment completed self-administered questionnaires that assessed anxiety, depression, knowledge of technical aspects of PGD, expectancy of establishing a pregnancy and unmet information needs. Result SAnxiety and depression rates were similar to normal population data. State anxiety was associated with degree of financial worry [β = 0.36, t = 2.60, P = 0.01, 95% confidence interval (CI): 0.03-0.23], and living in an inner metropolitan area (β = 0.30, P = 0.03, 95 CI: 0.32-10.81). Unmet information needs were positively associated with women's education (β = 0.97, P = 0.01, 95% CI: 0.22-1.73). Lastly, expectancy of establishing a pregnancy was above that of what clinicians provide as realistic PGD pregnancy chances and, unexpectedly, was also associated with degree of financial worry (β = 0.36, P = 0.01, 95% CI: 0.07-0.56). Conclusions Women entering PGD are emotionally well adjusted although the financial costs associated with PGD are associated with increases in anxiety. The study is limited by its small sample size and the fact that partners were not assessed. © The Author 2010.


Karatas J.C.,University of Sydney | Barlow-Stewart K.,Center for Genetics Education | Barlow-Stewart K.,University of Sydney | Meiser B.,University of New South Wales | And 5 more authors.
Human Reproduction | Year: 2011

Background PGD has been described in previous cross-sectional and retrospective studies as a stressful experience. No prospective studies of the psychological impact of PGD are currently available. Methods Using a prospective study design, validated measures exploring anxiety and depression were used to assess women using PGD prior to treatment, following embryo transfer, following the pregnancy test result and at 24 weeks of pregnancy. Maternal-fetal attachment was also assessed during pregnancy. Results The prospective design revealed the cyclical pathway through PGD for many women, often comprising repeated cycles of ovarian stimulations and IVF and frozen embryo transfers. As predicted, there were significant fluctuations in womens anxiety scores, with increases observed following embryo transfer and pregnancy testing. Womens anxiety scores returned to baseline levels during pregnancy as assessed at 24 weeks gestation. Depression scores did not significantly fluctuate during PGD. Maternal-fetal attachment scores in this sample did not differ from the normative Australian data. Conclusions For some women, the PGD pathway is convoluted and requires multiple IVF cycles and embryo transfers to achieve pregnancy. A subset of women experience significant emotional burden during PGD treatment, and it is these women who require closer attention and support. In this sample, emotional adjustment in pregnancy following PGD appears to be sound. © 2010 The Author.


Rahman B.,Prince of Wales Hospital | Rahman B.,University of New South Wales | Meiser B.,Prince of Wales Hospital | Meiser B.,University of New South Wales | And 9 more authors.
Genetic Testing and Molecular Biomarkers | Year: 2012

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. © 2012 Mary Ann Liebert, Inc.


Meiser B.,Prince of Wales Hospital | Meiser B.,University of New South Wales | Gleeson M.,Prince of Wales Hospital | Kasparian N.,University of New South Wales | And 7 more authors.
Gynecologic Oncology | Year: 2012

Objective: There is growing evidence that the BRCA mutation status of women newly diagnosed with ovarian cancer may be used to make treatment recommendations in the future. This qualitative study aimed to assess women's attitudes and experiences toward treatment-focused genetic testing (TFGT). Methods: Women (N = 22) with ovarian cancer who had either (i) advanced disease and had previously had TFGT (n = 12) or (ii) had a recent ovarian cancer diagnosis and were asked about their hypothetical views of TFGT (n = 10), were interviewed in-depth. Results: This study demonstrates that patients diagnosed with ovarian cancer found the concept of TFGT acceptable with the primary motivation for genetic testing being to increase their treatment options. Women reported that there was no decision to make about TFGT, and the advantages of TFGT were perceived to outweigh the disadvantages. Many women described elements of resilience and active coping, in the context of hypothetical and actual TFGT. Conclusions: Resilience and active coping strategies are important factors that warrant investigation as potential moderators of psychological distress in future prospective studies exploring the optimal way of offering BRCA genetic testing to women newly diagnosed with ovarian cancer, and to assess the impact of TFGT upon patients' survival, psychological distress, and quality of life. © 2011 Elsevier Inc. All rights reserved.


Saleh M.,Royal North Shore Hospital | Saleh M.,University of New South Wales | Saleh M.,Center for Genetics Education | Barlow-Stewart K.,Royal North Shore Hospital | And 5 more authors.
Journal of Genetic Counseling | Year: 2011

This paper examines the culturally determined attitudes and beliefs about kinship, causation of hereditary cancer and other illnesses and the importance of family history amongst Arabic-Australians. Ethnographic interviews were conducted initially with individuals who had attended a family cancer clinic and subsequently with community members. Our aim was to either verify or challenge the reported findings from the clinic sample. Interviews with 38 participants provided cultural descriptions of hereditary illnesses, including cancer, and their causes. While respondents recognized family history as an important factor that reflects on one's likelihood of successful child-bearing, models of kinship described were not in line with Western concepts. Important issues emerged which need to be recognized as potential barriers to access to genetics services and challenges in this community. These include a lack of awareness of inherited cancer and the impact of consanguinity on the understanding of kinship in this community. © 2011 National Society of Genetic Counselors, Inc.


Dunlop K.,Royal North Shore Hospital | Dunlop K.,Center for Genetics Education | Barlow-Stewart K.,Royal North Shore Hospital
Public Health Genomics | Year: 2010

Background: Evidence that family health history (FHH) informs recommendations for appropriate early detection strategies used for the prevention of many health conditions underscores the importance of optimizing a patient's knowledge of his/her personal FHH. For some conditions, FHH also underpins identifying those at potentially high risk for whom genetic testing may be possible and suitable to further inform the advice. The Family Health History Campaign 'Start the Conversation' was conducted in New South Wales (Australia) in August 2006 as a small state-wide media campaign with the aim of encouraging individuals to discuss and gather their FHH information about several conditions and report it to their doctor. Campaign development included consultations with consumers and primary care practitioners (general practitioners - GPs), development of campaign resources, and establishment of partnerships. Methods: Evaluation methodologies included community poll surveys pre- and post-campaign, a GP mail survey, and website usage analysis. Results: While only 112/403 of the polled community reported hearing about the campaign in the media, 48% of those men and women were encouraged to start the conversation with their families. Limited findings from the GP survey respondents suggested they were engaged, made aware of the potential lack of patient knowledge about FHH and generated referral for several high-risk patients. Conclusion: Campaigns that use the media to encourage the community to take action and also engage the GPs can create a supportive environment that has the potential to increase the accuracy with reporting of FHH to maximize benefit for early detection and prevention. © 2009 S. Karger AG, Basel.

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