Resources in Genetics for EHDI Professionals

Resources for Professional Information in Genetics

Intermediate Management Guidelines for Newborn Screening, American College of Medical Genetics ACT Sheets and Confirmatory Algorithms

http://www.ncbi.nlm.nih.gov/books/NBK55832/

ACTion (ACT) sheets describe the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive for endocrine, hematological, genetic and metabolic diseases. An algorithm presents an overview of the basic steps involved in determining the final diagnosis in the infant. The ACT sheets and algorithms are designed primarily as educational resources for physicians to help them provide quality medical services. The algorithms were developed by a work group that included experts in the various specialties and conditions involved in newborn screening. ACT sheet and algorithm for hearing loss (under Genetic Disorders):  http://www.ncbi.nlm.nih.gov/books/NBK55827/

Gene Tests/Gene Clinics, University of Washington

http://www.geneclinics.org/

This resource provides up-to-date information on a wide variety of genetic conditions. This site has reviews of genetic conditions written by genetics professionals (Gene Reviews) and also has lists of laboratories which can perform clinical or research genetic testing for specific conditions. There is also information about where you can refer clients for genetic evaluation and counseling.

Hereditary Hearing Loss Homepage, University of Antwerp and University of Iowa
http://hereditaryhearingloss.org
The Hereditary Hearing loss Homepage aims to give an up-to-date overview of the genetics of hereditary hearing impairment for researchers and clinicians working in the field. This site lists data and links for all known gene localizations and identifications for nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent forms are covered.

Connexin-Deafness Homepage, Centre for Genomic Regulation
http://davinci.crg.es/deafness/
The Connexin-Deafness Homepage is targeted to clinicians and researchers. It includes mutation and polymorphism databases for the known connexin genes and provides a mechanism for researchers to submit newly identified connexin mutations to the databases.

Online Mendelian Inheritance in Man (OMIM), Johns Hopkins University and National Center for Biotechnology Information
http://www.ncbi.nlm.nih.gov/Omim
This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information and references. It also contains copious links to MEDLINE and sequence records in the Entrez system, and links to additional related resources at NCBI and elsewhere.

Resources for Parent and Consumer Information in Genetics:

Genetics Home Reference, U.S. National Library of Medicine

http://ghr.nlm.nih.gov/

Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health, but is also useful for health care professionals. Entries on specific genetic conditions are written and reviewed by genetics professionals. Links to other accurate and reliable sources of information are provided, as well as links to information about treatment and support groups.

Harvard Medical School Center for Hereditary Deafness

http://hearing.harvard.edu/

This web site provides a variety of deafness-related materials for both consumers and professionals. Two parent-friendly pamphlets on genetic deafness are available online and can be ordered in print. A deafness gene mutation database is available, but has been updated only to 2002.

 

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