"Why and how did this happen?": development and evaluation of an information resource for parents of children with CHD.

BACKGROUND: The causes of CHD are complex and often unknown, leading parents to ask how and why this has happened. Genetic counselling has been shown to benefit these parents by providing information and support; however, most parents currently do not receive this service. This study aimed to develop a brochure to determine whether an information resource could improve parents' knowledge about CHD causation and inheritance and increase psychosocial functioning. METHODS: In development, the resource was assessed against several readability scales and piloted. Parents of children attending preadmission clinic for surgery were included. Assessments occurred pre- and post-receiving the information resource using a purpose-designed knowledge measure and validated psychological measures. RESULTS: Participant's (n = 52) knowledge scores increased significantly from the pre-questionnaire ( ${\overline x}\, = \,5/10$ , sd = 2.086) to post-questionnaire ( $\overline x\, = \,7.88/10$ , sd = 2.094, p < 0.001), with all aware that CHD can be caused by genetic factors after reading the brochure. Perceived personal control also increased from pre- ( $\overline x\, = \,11.856/18$ , sd = 4.339) to post-brochure ( $\overline x\, = \,14.644/18$ , sd = 3.733, p < 0.001), and many reported reduced feelings of guilt. No negative emotional response to the brochure was reported. The information provided was considered relevant (88%), reassuring (86%), and 88% would recommend the brochure to other parents. However, some wanted more emotional support and assistance in what to tell their child. CONCLUSIONS: Use of the information resource significantly enhanced parents' knowledge of CHD causation and increased their psychosocial functioning. It is a valuable resource in the absence of genetic counselling; however, it should not replace formal genetic counselling when required.

Major study commencing into genetic discrimination in Australia.

This article describes a nationwide empirical study that will be undertaken during the next three years into the newly emerging phenomenon of genetic discrimination. In particular, the study aims to investigate the nature and extent of genetic discrimination in Australia across three key perspectives: consumers, third parties and the legal system. Further, the study aims to examine the social and legal implications of genetic discrimination, with a view to making recommendations for use in the Australian legal and policy context. It is anticipated that the data produced from this multifaceted investigation will assist in identifying areas where legal or other reforms are required. It will contribute significant baseline data for facilitating ongoing assessment of the nature and extent of the problem, as well as for longitudinal evaluation of the impact and effectiveness of any reforms which may be introduced in the future to address the issue.

Working in partnership with support services in the era of the "new genetics".

Patient care in the "new genetics" era encompasses not only the diagnosis of a genetic condition or risk, but also managing the psychosocial, familial and ethical sequelae. Partnerships between the medical professional and expert clinical genetics services, support groups, registries and genetics education services provide a framework for this management. More than 750 Australian support groups assist individuals and families with genetic conditions through contact with peers, information and education resources for patients and professionals, practical advice about coping and advocacy.

Australian empirical study into genetic discrimination.

This paper outlines a major empirical study that is being undertaken by an interdisciplinary team into genetic discrimination in Australia. The 3-year study will examine the nature and extent of this newly emerging phenomenon across the perspectives of consumers, third parties, and the legal system and will analyze its social and legal dimensions. Although the project is confined to Australia, it is expected that the outcomes will have significance for the wider research community as this is the most substantial study of its kind to be undertaken to date into genetic discrimination.

Investigating genetic discrimination in Australia: opportunities and challenges in the early stages.

Genetic discrimination, defined as the differential treatment of individuals or their relatives on the basis of actual or presumed genetic differences, is an emerging issue of interest in academic, clinical, social and legal contexts. While its potential significance has been discussed widely, verified empirical data are scarce. Genetic discrimination is a complex phenomenon to describe and investigate, as evidenced by the recent Australian Law Reform Commission inquiry in Australia. The authors research project, which commenced in 2002, aims to document the multiple perspectives and experiences regarding genetic discrimination in Australia and inform future policy development and law reform. Data are being collected from consumers, employers, insurers and the legal system. Attempted verification of alleged accounts of genetic discrimination will be a novel feature of the research. This paper overviews the early stages of the research, including conceptual challenges and their methodological implications.