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Published on: August 20, 2019
Internet resources in medical genetics
Darrel J Waggoner1, Roberta A Pagon
1The University of Chicago, Chicago, Illinois, USA.
Current Protocols in Human Genetics
|July 8, 2009
Summary
This guide reviews essential web resources for genetic testing information. It covers molecular diagnostics, inherited diseases, and newborn screening for clinicians and consumers.
Area of Science:
- Genetics
- Bioinformatics
- Clinical Medicine
Background:
- Clinicians require accessible, reliable web resources for genetic testing.
- Information on molecular basis of inherited diseases is crucial for patient care.
- Consumers and professional societies also need curated genetic information.
Purpose of the Study:
- To provide an overview of commonly used web-based information resources.
- To support clinicians in applying genetic testing in patient care.
- To assist consumers and professional societies in accessing genetic information.
Main Methods:
- Literature review of web-based genetic information resources.
- Categorization of resources based on user needs (clinicians, consumers, societies).
- Evaluation of resource utility for molecular testing, metabolic diseases, and newborn screening.
Main Results:
- Identified key web resources for genetic testing information.
- Highlighted resources for understanding inherited diseases and metabolic disorders.
- Included resources for newborn screening and genetic advocacy.
Conclusions:
- Web-based resources are vital for disseminating genetic information.
- Effective use of these resources can improve patient care and genetic literacy.
- A curated list aids professionals and the public in navigating genetic information.
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