The broad long-term objective of this proposal is to maintain and enhance GeneTests (formerly Helix) (www.genetests.org) as a comprehensive genetic testing and counseling resource accessible to a broad range of users.
The specific aims of this proposal are: (1) to maintain and enhance the GeneTests Test Database that supports the disease-specific Laboratory Directory listings, provides the genotype (gene, locus, product) information for, and provides aggregate data on genetic test availability and use; (2) to maintain and enhance the GeneTests directories (Laboratory Directory and Clinic Directory) used to locate U.S. and international laboratories providing research and clinical testing for rare genetic disorders and U.S. clinics providing genetic counseling services; 3) to maintain the GeneTests educational and teaching materials that make the information contained in the Test Database and Directories more understandable to a broad audience (e.g., non-geneticist healthcare providers, the public, the media, insurers, policymakers, the biotechnology industry); (4) to maintain and enhance the GeneTests technical constituencies; and (6) to investigate ways for GeneTests to become self-sustaining. The health-relatedness of this project is: (1) to facilitate integration of genetic testing and genetic counseling into medical practice by making information on testing and counseling for inherited disorders accessible to healthcare providers, healthcare policymakers, and the public; and (2) to support genomic research by providing high visibility for and easy access to laboratory genetic research studies. The project design is to use an experienced content and informatics team to enhance the database structure, software tools, content and display: (1) to meet user needs for information on disease-specific genomic research, genetic tests ,and regulations/legislation governing test use and laboratory standards; and (2) to promote linking to and data exchange among diverse genomic and healthcare databases.
| Durant, Kathleen T; McCray, Alexa T; Safran, Charles (2012) Identifying gender-preferred communication styles within online cancer communities: a retrospective, longitudinal analysis. PLoS One 7:e49169 |
| Pagon, Roberta A; Tarczy-Hornoch, Peter; Baskin, Patricia K et al. (2002) GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat 19:501-9 |
| Tarczy-Hornoch, P; Covington, M L; Edwards, J et al. (1998) Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics community. Proc AMIA Symp :341-5 |
