Results Interpretation & Application Toolkit: Management
Results Interpretation & Application Toolkit: Management
Results Interpretation & Application Toolkit: Management
Management
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 purpose of 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.
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 on Professionals and Disorder Leaflets to 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.