Current Research Projects

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About 5% of all colorectal and breast cancers involve a family history consistent with hereditary non-polyposis colorectal cancer (HNPCC) or hereditary breast cancer. Testing of the genes involved provides carriers with the possibility of improving survival through and increased focus on screening and preventative measures. Non-carriers may return to screening levels appropriate for individuals in the general population. The information to be conveyed about the risks and benefits of genetic testing is particularly complex. High quality patient-education materials are needed urgently as adjuncts to practitioners' counselling to assist individuals to understand the
benefits and risks of genetic testing. This study will provide much needed evidence regarding the efficacy of decision aids, an innovative type of intervention, in facilitating informed choices about genetic testing.

This project involved developing 2 decision aids to assist individuals considering genetic testing for hereditary breast/ovarian cancer and hereditary non-polyposis colorectal cancer (HNPCC). Developed decision aids were developed in consultation with a decision aid development committee, consisting of 19 experts in relevant fields, including clinical geneticists, genetic counsellors, oncologists, psychologists with expertise in genetics and oncology, an expert in adult education and a consumer representative. We then conducted 3 randomised controlled trials of the short and longer-term effectiveness of the decision aids (recruiting 360 individuals with a strong family history of cancer to participate in the trials). The first trial showed that women who received the breast/ovarian cancer decision aid had significantly higher knowledge levels about genetic testing, and felt more informed in their decision-making, than women who received standard care, which included receiving a brief educational pamphlet. While data collection is on-going for the later 2 trials, the preliminary results of these trials appear positive as well. When it became clear during the project that there was increasing concern in the clinical genetics field as to the most appropriate term to use when describing a cancer-related mutation to patients, we also conducted a large, online survey of 253 individuals in the general community and 20 clinicians working in cancer genetics, in order to compare the language preferences of the general community, clinicians in the field and individuals with a strong family history of cancer. We also used the online survey to conduct Australian validation studies of two psychological assessment tools that have not been used in Australia before: the Zimbardo Time Perspective Inventory and the Threatening Medical Situations Inventory. This is valuable work that will improve the research community’s understanding of the assessment of psychological characteristics in individuals living in Australia.

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Men at increased risk for prostate cancer on the basis of family history are confronted with difficult decisions regarding the management of that risk. The information that needs to be conveyed is complex, and men often have difficulty accurately weighing up the costs and benefits of alternative options that have uncertain outcomes. As genetic testing is not yet clinically available for this group, men at increased risk must make decisions about their risk management under conditions of uncertainty. There is widespread agreement, however, that men’s decisions about whether or not to have PSA screening should be informed decisions, made within the context of knowledge about management of prostate cancer, should it be detected. The HPC-DA study has three aims: (i) to undertake a multidisciplinary systematic review of the literature on the psycho-social and risk-related issues faced unaffected men with a strong family history of prostate cancer; (ii) to develop and pilot-test a decision aid for men with a strong family history of prostate cancer to inform them about their risk management options; and (iii) to compare in a randomised trial the efficacy of the decision aid to that of a comparison pamphlet amongst men at increased risk of developing prostate cancer on the basis of family history. It is anticipated that a decision aid will lead to better understanding of management issues, educated involvement in decision-making and increased consumer satisfaction.

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Psychosocial Aspects of Familial Melanoma

Nadine Kasparian, Bettina Meiser, in collaboration with Graham Mann (Westmead Institute for Cancer Research, Sydney), and Phyllis Butow and Judy Simpson (University of Sydney)

Mutations in two genes, CDKN2A and (rarely) CDK4, have been shown to cause inherited melanoma susceptibility with high penetrance. In Australia, the anticipated demand for genetic testing for melanoma risk and its impact on health services may be considerable, as our previous research suggests. However decisions about predictive genetic testing for melanoma risk are likely to be complex. The potential benefits of genetic testing for carriers include the possibility of improving survival through an increased focus on early detection strategies or, in some cases, preventive practices. However, genetic risk information also has the potential to cause psychological distress, to lead to over-biopsying of suspicious lesions, and to reduce motivation for preventive behaviour by non-carriers. At present, our multidisciplinary team are examining the psychosocial impacts of genetic testing for melanoma risk in a sample of Australians at high-risk due to family history. Specifically, we aim to: (i) assess the demographic and psychological predictors of uptake of genetic testing for melanoma risk; (ii) examine the short- and long-term impact of genetic testing on psychological functioning and health behaviours; (iii) specify the time points at which negative psychological outcomes are most likely; and (iv) identify individuals most at risk of developing negative outcomes. We hope that our findings will help to identify priority areas for patient education and provide the basis for the planning of support services.

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Countries participating in this large international study include the UK, France, Spain, Sweden, Italy, The Netherlands, Israel, Slovenia, Poland, Latvia, and the USA. Our primary aim is to gather information to develop a web page tool which will allow members of the general public and members of melanoma families to: (a) estimate their personal risk of melanoma; (b) understand which of their habitual behaviours are most likely to increase their risk of melanoma; and (c) understand how to moderate those behaviours appropriate to their level of risk. This study consists of an on-line (web-based) questionnaire, conducted in two separate samples. The first sample (Group 1) will consist of individuals with a family history of melanoma who are already fully consented into an existing genetic epidemiology of melanoma study. The second sample (Group 2) will consist of participants from the general public. Systematic recruitment of large numbers of individuals at either average- or increased-risk of developing melanoma, on an international scale, provides a unique opportunity to address the research questions with sufficient power and in a timely manner. In view of limited health resources, efficient and effective targeting of melanoma prevention and detection strategies is a vital task.

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Psychological well-being and coping amongst young adults with MEN2A and their families

Nadine Kasparian, Bettina Meiser, Kathy Tucker, and Alison Rutstein

Multiple endocrine neoplasia type 2A (MEN2A) is a rare inherited disease characterised by the development of tumours in one or more of the endocrine, thyroid, adrenal, and parathyroid glands. Individuals with MEN2A have a high risk of developing medullary thyroid carcinoma at a young age, thus genetic testing followed by surgery to remove the thyroid gland is recommended for children who carry a predisposing gene mutation. However, little is known about the psychological impact of MEN2A on young people and their families. Funded in 2007 by an Early Career Researcher Award (UNSW), the aims of this research project are three-fold: (1) to develop and pilot a questionnaire designed to assess psychological issues specific to young people with MEN2A and their families; (2) to describe the impact of MEN2A on a number of life domains, including physical, psychological, and family functioning; and (3) to identify psychological and non-psychological correlates of distress among Australian young people with this complex hereditary disease, and their families.

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The psychosocial impact of Familial Adenomatous Polyposis (FAP) on young adults

Lesley Andrews, Shab Mireskandari, Jaime Jessen, Belinda Thewes, Bettina Meiser, in collaboration with Finlay Macrae (Royal Melbourne Hospital) and Michael Solomon (Royal Prince Alfred Hospital).

This two–phase project aims to survey young adults (aged 18-35 years) with either a clinical or genetic diagnosis of FAP, or are at risk of FAP, in order to: a) explore the psychosocial impact of FAP and its treatment amongst this age group; b) identify their unmet information and support needs; c) survey their experience (if any) of perceived genetic discrimination; and d) survey their attitudes towards the genetic testing of minors. In the first phase of the study, we undertook in-depth interviews to explore the range of views and needs.  In the second phase of the project, we are currently using a quantitative methodology to measure the extent to which views and needs are endorsed.  It is the aim of this phase to recruit approximately 200 members of Hereditary Bowel Cancer Registries in NSW, Victoria, Queensland and SA.

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Exploring the characteristics of post-cancer fatigue syndromes in women treated for early stage breast cancer

Barbara Bennett, David Goldstein, in collaboration with Andrew Lloyd, University of New South Wales (Funded by a Dissertation Award (DISS 01-353) from Susan G. Komen Foundation (USA)

Though sophisticated diagnostic and treatment methods have reduced mortality from breast cancer, previously unrecognized chronic morbidity, potentially linked to therapy remains an important concern. Up to 78% of women may experience debilitating fatigue, often persisting for many months. Several questionnaires currently available measure only fatigue symptoms. However, fatigue may be the presenting symptom of psychological distress, particularly relevant given that 47% of patients experience depression post-treatment. Tools to assess fatigue should therefore identify major psychological distress in addition to measuring fatigue. This study aims to identify i) experiences of fatigue symptoms in breast cancer therapy survivors, ii) putative unique features of treatment-related fatigue, which may distinguish it from fatigue in other medical conditions, and iii) features distinguishing between prolonged fatigue and depression in women survivors of breast cancer. The findings will potentially lead to the enhancement of existing theories of fatigue aetiology in breast cancer survivors, thus improving diagnostic and treatment options. Data analyses are underway.

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Evaluation of interventions for post cancer fatigue

Barbara Bennett, David Goldstein, in collaboration with Andrew Lloyd, University of New South Wales (Funded by a Dissertation Award (DISS 01-353) from Susan G. Komen Foundation (USA)

Fatigue and psychological distress are commonly experienced by patients treated for cancer. Currently there is no clear understanding of the biological basis of post-cancer fatigue (PCF) and no effective prevention or treatment strategy. Depression may be associated with fatigue but this is not a universal finding.

The project is a pilot program to evaluate an integrated and comprehensive assessment and rehabilitation management program for patients who have received potentially curative treatment for cancer. Initially targeted at women treated for breast cancer it will be extended to other groups (i.e. those treated for colorectal cancer and Hodgkin’s disease). The study aims to evaluate the efficacy of cognitive-behavioural therapy (CBT) as preventative therapy for functional impairment consequent on depression for patients following cancer treatment and to evaluate a psycho-education and graded exercise therapy (GET) program for patients with fatigue after treatment.

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Each year approximately 10,000 women are diagnosed with breast cancer in Australia, making this the most frequently diagnosed cancer in reproductive age women. Approximately 6-7% of these women are under 40 years at the time of their diagnosis.  All patients faced with decisions about treatment for cancer need to weigh up the benefits and side-effects of treatment.  This issue is particularly relevant in considering the effects of treatment on future fertility. The prognosis in terms of survival for young women is often excellent, but permanent ovarian failure and hence infertility as a result of adjuvant chemotherapy is a common consequence. For many young women, this is of enormous importance. Yet, many are not fully informed of the potential adverse reproductive effects of chemotherapy or fail to take in the possible consequences of treatment while making treatment decisions shortly after the diagnosis of breast cancer.  Information needs are one of the greatest areas of unmet psychosocial need for cancer patients. Both in Australia and overseas, there is currently a dearth of comprehensive educational materials about fertility-related issues, and no decision aids (information tools specifically designed to assist with decision-making) are available.

Our objective is to conduct a comprehensive nation-wide prospective study to compare the efficacy of a fertility-related decision aid to usual care amongst young women with a diagnosis of early breast cancer. Specifically, this study aims to: (i) assess knowledge about fertility-related issues; (ii) examine psychological and decision-related outcomes; (iii) and observe reported patterns of care to determine the extent to which current national guidelines on the management and support of young women with breast cancer are being implemented.  It is anticipated that the decision aid will lead to better understanding of fertility-related issues, educated involvement in decision-making and increased consumer satisfaction.  Finally, it is possible that the tool may lead to subsequent reductions in distress levels, and it will be possible to test these hypotheses as part of the proposed study. As a side benefit of this study, we will be able to assess the relationship between current oncological practice and guidelines concerning communication of information about fertility to young women with breast cancer. This may assist the implementation of these guidelines by informing appropriate strategies to encourage uptake.

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OVER (Olive oil Vaginal Exercise and Replens) come - an intervention study to improve sexual function in women with breast cancer

Kelly Mok, Michael Friedlander, Shab Mireskandari, Bettina Meiser, Michelle Peate in collaboration with Sherin Jarvis (Royal Hospital for Women, Sydney) and Ilona Juraskova (University of Sydney)

The OVERcome study is investigating the efficacy of an intervention which combines pelvic floor exercises with the use of a vaginal moisturiser and vaginal lubricant, to improve symptoms of vaginal dryness and pain during sex.  This study is conducted at the Prince of Wales Hospital and the Royal Hospital for Women, Randwick.

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Prevalence of Sexual Dysfunction and Quality of Life in Women with Breast Cancer receiving Aromatase Inhibitors: A Multicentre Prospective Study

Kelly Mok and Michael Friedlander in collaboration with Ilona Juraskova (University of Sydney)

There is now increasing use of hormonal treatment with aromatase inhibitors in the adjuvant setting for women with breast cancer. There is scant information regarding the effects of these agents on a woman's sexual function. Studies have however, raised the possibility of worse vaginal dryness when compared with Tamoxifen which may in turn affect overall sexual functioning and quality of life. This prospective study will be undertaken at multiple oncology centres in Australia to address this concern.

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Beliefs about genetics, kinship, inheritance and cancer in the Arabic-Australian community

Mona Saleh, Bettina Meiser in collaboration with Kristine Barlow-Stewart (Centre of Genetics Education).

This project builds on previous research in the Chinese-Australian community to explore and assess how cultural background shapes an individual’s belief about genetics, kinship, inheritance and cancer. This will lead to a better understanding of how these beliefs shape the cultural construction of hereditary cancer and attitudes towards genetic counselling and testing for hereditary cancer susceptibility.

There will be 4 groups of approximately 15 individuals each studied as well as approximately 40 professionals working in general genetics and hereditary cancer clinics in Australia.

Group 1: This group will consist of approximately 15 individuals of an Arabic-Australian descent (i.e. they or a member of their immediate family speaks Arabic or has a country of birth or ancestry from an Arabic speaking country). These individuals will have previously attended a hereditary cancer clinic in NSW from which they will be recruited.

Group 2: This group will consist of approximately 15 individuals of an Anglo/Celtic-Australian descent (i.e. they, their parents and all grandparents have an Anglo/Celtic country of birth). These individuals will have previously attended a hereditary cancer clinic in NSW from which they will be recruited.

Group 3: This group will consist of approximately 15 individuals of an Arabic-Australian descent (i.e. they or a member of their immediate family speaks Arabic or has a country of birth or ancestry from an Arabic speaking country). These individuals will not have previously attended a hereditary cancer clinic in NSW and will be recruited from community groups.

Group 4: This group will consist of approximately 15 individuals of an Anglo/Celtic-Australian descent (i.e. they, their parents and all grandparents have an Anglo/Celtic country of birth). These individuals will not have previously attended a hereditary cancer clinic in NSW and will be recruited from community groups.

Professionals: Attitudes and experiences with culturally and linguistically diverse patients and families will be explored through moderated group discussions with professional working in both general genetics services and hereditary cancer genetic services.

This research will significantly add to the knowledge of clinicians and other service providers by allowing the challenges faced by genetics professionals to be documented. In addition to this, a comparison of the ethnographic data from the Arabic-Australians and the Anglo/Celtic-Australians will uncover any common ground or significant differences in the way information about hereditary cancer is processed by these culturally distinct groups. This will lead to better patient directed services and a more thoughtful approach to providing genetic services to Australian people.

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Demand for genetic services in hereditary breast/ovarian cancers has grown rapidly over the past years. Alongside this is a need for more equitable health care to rural and outreach patients, who often have very limited access to specialist services.  With technological advancements, Telehealth, or videoconferencing, has now reached a stage where it can be seen as a viable alternative to face-to-face consultations, and is being rapidly adopted.  While telehealth has been used for many years in psychiatry and psychology, there has been little research about its impact and acceptability in medical genetics, less so specifically in cancer genetic counselling.  This study aims to assess the practical feasibility, efficacy and satisfaction with telehealth, and to identify the strengths and weaknesses and its impact on the counselling process. To achieve the objectives of this study, a multi-method evaluation will be undertaken involving 1) semi-structured interviews to explore patients and practitioners experience with telehealth, 2) a prospective study comparing the efficacy of telehealth versus face-to-face genetic counselling with regard to patient outcomes, including risk perception, retention of knowledge, impact on anxiety and depression, and satisfaction with service delivery; and 3) interaction analysis of recorded telehealth consultations, using a coding system based on a previous study examining breast cancer genetic counselling. The study will add to the current research by providing both qualitative and quantitative data on the efficacy of telegenetics. It will be the first study to assess the impact of telegenetics on communication patterns and the doctor-patient interaction, with the view to inform training programs for geneticists and genetic counsellors.