Resources for Professional Education in Genetics

Distance Learning in Genetics for EHDI Professionals, Gallaudet University

                   http://depts.gallaudet.edu/genetics/EHDI.Welcome.htm

The first introductory-level course “PST 756 Genetics and hearing loss for EHDI Professionals” will take place April 23 – June 29, 2007.  This 10 week online course, designed specifically for EHDI professionals, provides an introduction to cell biology, modes of inheritance, pedigree analysis, genetic epidemiology of hearing loss, DNA structure and function, syndromic and non-syndromic forms of hearing loss and genetic counseling.  Online discussions will also focus on strategies for infusing genetics into EHDI programs at the state and local levels and meeting the needs of parents for genetic services and information.  ASHA CEUs are available.

Newborn Screening in Connecticut, Web-based Training for Pediatricians, Family Practitioners, Advanced Practice Nurses, and Physician Assistants, University of Connecticut Health Center

                        http://www.genetrain.org

This web-based training includes seven individual sessions, each less than 30 minutes, covering a wide range of newborn screening.  Individuals sessions include information on congenital hypothyroidism, hemoglobinopathies, cystic fibrosis, EHDI and genetic testing for infants with hearing loss.  Free CMEs are provided for each session completed.

Genetics in the Practice of Speech-Language Pathology and Audiology, National Coalition for Health Professional Education in Genetics (NCHPEG)

                        http://shla.nchpeg.org/

This web-based genetics education program is targeted to speech-language pathologists, audiologists, students, faculty and professionals and is designed to provide practical examples of how genetics is clinically relevant for patients and families and how it may change speech-language and audiology practice. ASHA and AAA CEUs are available.

Genetic Aspects of Hearing Loss, American Speech-Language-Hearing Association

                        http://www.asha.org/    

This short audio self-study course provides a review of the epidemiology of hearing loss, genetic evaluation and approach to diagnosis.  The most common syndromic causes are reviewed, including associated medical issues.  ASHA CEUs are available.

Resources for Professional Information in Genetics

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

                        http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm

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: http://www.acmg.net/resources/policies/ACT/Act_Sheet-Hearing-Loss_4-17-06.pdf http://www.acmg.net/resources/policies/ACT/Visio-hearing-loss(4-17-06).pdf

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.  Examples of Gene Reviews of genetic hearing loss:

            http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=EJ4Gy2VAan2GT&gry=&fcn=y&fw=d1eQ&filename=/profiles/deafness-overview/index.html

            http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=EJ4Gy2VAan2GT&gry=&fcn=y&fw=Rbu7&filename=/profiles/mt-deafness/index.html

Hereditary Hearing Loss Homepage, University of Antwerp and University of Iowa
                        http://webhost.ua.ac.be/hhh/ 
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.  Examples of information on genetic forms of hearing loss:

            http://ghr.nlm.nih.gov/condition=jervellandlangenielsensyndrome

            http://ghr.nlm.nih.gov/condition=waardenburgsyndrome

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.

Boys Town National Research Hospital, Information on Hearing Loss – Genetics and Deafness

                        http://www.boystownhospital.org/Hearing/info/genetics/index.asp

The Boys Town web site includes consumer-friendly information on basic concepts in genetics, genetic syndromes and individual perspectives of genetic hearing loss.  The Boys Town site also provides a wide range of general information about hearing loss.