Exploring existing and deliberated community perspectives of newborn screening: informing the development of state and national policy standards in newborn screening and the use of dried blood spots

OBJECTIVE: Since the 1960s newborn screening (NBS) for several rare and serious disorders has been in place across Australia. Testing of a simple blood spot now enables the early detection of over 30 conditions. Policies across Australian states have diverged in some aspects of NBS, especially in the retention and further use of dried blood spots collected as part of the screening and attempts are underway to bring some further national consistency. Whilst this has initiated debate amongst health professionals and policy makers there is limited empirical evidence of wider community attitudes to such issues. METHODS: This research has explored the range and depth of views held by the wider community in New South Wales through moderated small group discussions. It has also assessed the range and depth of responses where the groups are reconvened after being given further information. RESULTS: The findings suggest that there is limited community awareness of the public health importance of NBS and especially that resulting biological samples are stored. Members of the wider community presented with opportunities to consider current procedures and policies appear reassured and to have high levels of trust. However there are clearly some groups who have concerns with the storage of dried blood spot specimens and perceive that these may be abused. POLICY IMPLICATIONS AND CONCLUSION: The findings will inform health professionals and policy makers as to the perceived benefits and future challenges NBS raises for the wider community. The findings have implications for improving current communications about NBS, maintaining public confidence and the development of state and national initiatives in genetic health

Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda

Many women newly diagnosed with breast cancer and with a strong family history of breast cancer are referred to a family cancer service for genetic counselling and for consideration of genetic testing for germline mutations in cancer predisposition genes following completion of their cancer treatment. However, there is growing evidence that mutation status may influence treatment recommendations, and that there may be benefits in having 'treatment-focused genetic counselling and testing' available shortly after cancer diagnosis. This article reviews the literature that could inform the development of treatment-focused genetic counselling and testing, including: the rationale for genetic testing to aid with treatment decisions; the potential benefits of using mutation or risk status to tailor management; the criteria that may be used to identify patients most likely to carry germline mutations; and the evidence regarding women's decision-making regarding treatment-focused genetic counselling and testing and the associated psychological impact

My time; your time; the time of living with myeloma

Abstract of a poster presentation presented at the Joint Meeting of the COSA 39th Annual Scientific Meeting and IPOS 14th World Congress of Psycho-Oncology, 13-15 November 2012, Brisbane Convention and Exhibition Centre

How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer

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

Consumer experiences and predictive genetic testing

This paper presents an overview of predictive genetic testing in Australia and reviews key literature regarding the complexity of the decision to undertake predictive genetic testing, including concerns about post-test genetic discrimination. Particular attention is given to predictive testing involving inherited neuro- degenerative conditions and familial cancers. Previous research undertaken by the author4 including selected findings from the Consumer Study within the Australian Genetic Discrimination Project (GDP) 5 are presented and discussed

The use of legal remedies in Australia for pursuing allegations of genetic discrimination : findings of an empirical study

Differential treatment on the basis of genetic status (genetic discrimination), has become an issue of international concern. The Genetic Discrimination Project (GDP) is an Australia-wide study which has empirically examined the non-medical/health advantages and disadvantages for individuals who have gained specific information about their genetic status (typically through genetic testing). A major component of this project has been the Legal System Study which investigated and documented all cases involving allegations of genetic discrimination coming before anti-discrimination tribunals and other relevant bodies in Australia. Another major component of the project, the Consumer Study, investigated allegations of genetic discrimination from consumers of genetic tests. While the study identified a relatively small number of cases where allegations of genetic discrimination have been pursued under Australian anti-discrimination legislation, a key finding was the notable lack of uptake of legal remedies by those who may have experienced such discrimination. This paper explores possible factors contributing to this lack of uptake and makes recommendations to facilitate access to legal remedies by those who may have been subject to unlawful genetic discrimination