7/27/2019 Management Tool
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Results Interpretation & Application ToolkitManagement
Published October 2013 NCHPEGAll rights reserved
Management of individuals with genetic syndromes often includes
screening and treatment for the multi -systemic features
associated with the specific syndrome, developmental and
educational assessment, and screening for at -risk relatives. The
purposeof this tool is to help you identify resources that can aid
in the development of a comprehensive management plan for your
patient
and his or her family for a variety of genetic syndromes.
National Guidelines Clearinghouse
guideline.gov/
The National Guidelines Clearinghouse is a publicly available
resource that provides access to evidence-based clinical
practice
guidelines. Use the Clearinghouse to search for guidelines about
management of a specific syndrome.
GeneFacts
www.genefacts.org
GeneFacts are fact sheets designed to be used at the point of
care in clinic. Each condition-specific fact sheet includes
guidance on
risk assessment, diagnosis, testing, and management, with links
for evidence-based and professional society guidelines.
Unique
www.rarechromo.org
Unique is a family support group for rare chromosomal
conditions. They provide information to families, health
professionals, and
the public about many different chromosomal conditions. Click
onProfessionals and Disorder Leafletsto access
condition-specific
information.
GeneReviews
www.ncbi.nlm.nih.gov/books/NBK1116
GeneReviews are expert-authored, peer-reviewed, current disease
descriptions that apply genetic testing to the diagnosis,
management, and genetic counseling of patients and families with
specific inherited conditions.
Genetics education materials for school success: GEMSS
www.gemssforschools.org
The aim of GEMSS is to assure all children with genetic health
conditions succeed in school-life. This resource includes
information
about medical/dietary needs, education supports, behavior and
sensory supports, physical activity, school absences, and
emergency
planning for certain genetic conditions.
OMIM: Online Mendelian Inheritance in Man
omim.org/
OMIM is a frequently-updated online catalog of genetic syndromes
and gene associations. The full-text, referenced overviews
contain information on all known genetic syndromes. Use the
links on the right hand side of the page to find related
resources.
Management of Genetic Syndromes
S. B. Cassidy, & J. E. Allanson (Eds.). (2010).Management of
genetic syndromes (3rd
edition). Hoboken, N.J.: John Wiley & Sons, Inc.
National Institutes of Health Clinical Trials
Databasewww.clinicaltrials.gov
http://guideline.gov/http://www.genefacts.org/http://www.genefacts.org/http://www.rarechromo.org/http://www.rarechromo.org/http://www.rarechromo.org/forum/DisordersLeaflets.asphttp://www.rarechromo.org/forum/DisordersLeaflets.asphttp://www.rarechromo.org/forum/DisordersLeaflets.asphttp://www.ncbi.nlm.nih.gov/books/NBK1116http://www.ncbi.nlm.nih.gov/books/NBK1116http://www.gemssforschools.org/http://www.gemssforschools.org/http://omim.org/http://omim.org/http://www.clinicaltrials.gov/http://www.clinicaltrials.gov/http://www.clinicaltrials.gov/http://omim.org/http://www.gemssforschools.org/http://www.ncbi.nlm.nih.gov/books/NBK1116http://www.rarechromo.org/forum/DisordersLeaflets.asphttp://www.rarechromo.org/http://www.genefacts.org/http://guideline.gov/
