Version 2.5.2.0

Abstract

Grant Number:	2P41LM006001-07
Project Title:	Gene Test: Genetic Testing Resource

PI Information:	Name	Email	Title
	PAGON, ROBERTA A.	bpagon@u.washington.edu	PROFESSOR

Abstract: DESCRIPTION: (PROVIDED BY APPLICANT) 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.

Public Health Relevance:
This Public Health Relevance is not available.

Thesaurus Terms:
biomedical resource, biotechnology, genetic counseling, genetic registry /resource /referral center, genetic screening, information system
computer system design /evaluation, genetic disorder diagnosis, health care model, health care policy, health science research support, informatics, molecular genetics
human data

Institution:	CHILDREN'S HOSPITAL AND REG MEDICAL CTR
	4800 SAND POINT WAY NE
	SEATTLE, WA 98105
Fiscal Year:	2002
Department:
Project Start:	01-FEB-1996
Project End:	31-JAN-2005
ICD:	NATIONAL LIBRARY OF MEDICINE
IRG:	BLR

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