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This paper is intended to stimulate debate amongst stakeholders in the international research community on the topic of returning individual genetic research results to study participants. Pharmacogenetics and disease genetics studies are becoming increasingly prevalent, leading to a growing body of information on genetic associations for drug responsiveness and disease susceptibility with the potential to improve health care. Much of these data are presently characterized as exploratory (non-validated or hypothesis-generating). There is, however, a trend for research participants to be permitted access to their personal data if they so choose. Researchers, sponsors, patient advocacy groups, ethics committees and regulatory authorities are consequently confronting the issue of whether, and how, study participants might receive their individual results. Noted international ethico-legal guidelines and public policy positions in Europe and the United States are reviewed for background. The authors offer 'Points-to-Consider' regarding returning research results in the context of drug development trials based on their knowledge and experience. These considerations include: the clinical relevance of data, laboratory qualifications, informed consent procedures, confidentiality of medical information and the competency of persons providing results to participants. The discussion is framed as a benefit-to-risk assessment to balance the potential positive versus negative consequences to participants, while maintaining the integrity and feasibility of conducting genetic research studies.

The relationship between race and the use of BRCA1/2 counseling among women with a family history of breast or ovarian cancer is investigated. Results revealed large racial disparities where among women with a family history of breast or ovarian cancer, women who underwent BRCA1/2 counseling (cases) were significantly less likely to be American than women who did not undergo BRCA1/2 counseling.

Byline: Emily Simonoff (1) Keywords: Autism; fragile X; pervasive developmental disorder; genetic counseling; recurrence risk Abstract: With increasing awareness of the importance of genetic influences on autism, there is now a demand from families with an affected member for advice regarding their risk of having an autistic child. Research evidence currently available makes it possible to give families empirical recurrence risks. It is desirable that this information is imparted by those with joint expertise in the diagnosis and treatment of autism and in the genetics of complex modes of inheritance. A protocol for genetic counseling is described, along with the key elements that influence the recurrence risks given to individual couples. There is a need to give information regarding recurrence risks not only for autism but also for the broader phenotype. In addition, couples may have other issues they wish to discuss, which may influence their reproductive decisions. Author Affiliation: (1) Section of Child and Adolescent Psychiatry, Guy's, King's and St. Thomas' Medical School, nGuy's Hospital, St. Thomas Street, London, SE1 9RT, United Kingdom Article History: Registration Date: 29/09/2004