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Abstract
Grant Number: 5P41LM006001-05 Project Title: HELIX--GENETIC TESTING RESOURCE
PI Information: Name Title PAGON, ROBERTA A. bpagon@u.washington.edu PROFESSOR Abstract: The broad long-term objective of this proposal is to expand helix (healthlinks.washington.edu/helix/) from a directory of laboratories providing clinical and research genetic testing into a comprehensive genetic testing and counseling information resource accessible to a broad range of users. The specific aims of this proposal are: (1) to enhance the existing Helix genetic testing resource to meet the needs of broadening target audience including all healthcare providers, researchers, healthcare policy makers, and the public; (2) to expand the scope of Helix by including a directory of Clinical Genetics Service Centers, supplemental information on genetic counseling, and listing for centers conducting clinical genetic research studies; (3) to integrate the database structures of Helix and its complementary resource, Genline, into a core data model with Helix-specific and Genline-specific extensions; (4) to interface/integrate Helix with other electronic information resources; and (5) to evaluate ways for Helix 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 policy maker, and the public; (2) to support genomic research by providing high visibility for and easy access to laboratory and clinical genetic research studies. The project design is: (1) to enhance the Helix database structure using object-oriented data models; (2) to increase the Helix content; and (3) to utilize standardized genomic nomenclature and medical terminology (UMLS), to permit Helix to relate to both genomic databases and medical knowledge bases.
Public Health Relevance:
This Public Health Relevance is not available.Thesaurus Terms:
biomedical resource, biotechnology, genetic counseling, genetic screening, information system
computer system design /evaluation, genetic disorder diagnosis, health care model, health care policy, health science research support, molecular genetics
human data
Institution: CHILDREN'S HOSPITAL AND REG MEDICAL CTR 4800 SAND POINT WAY NE SEATTLE, WA 98105 Fiscal Year: 2000 Department: Project Start: 01-FEB-1996 Project End: 31-JAN-2002 ICD: NATIONAL LIBRARY OF MEDICINE IRG: BLR