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Genetic Medicine Resources: Starting Points for Clinicians
Key Genetic Medicine Resources
o Summaries of medical genetics information compiled from GeneReviews, OMIM, ClinVar, Genetic Testing Registry, and PubMed.
o Search for a gene, genetic disorder, or clinical feature.
o Links to practice guidelines.
o Point-of-care information for inherited conditions - diagnosis, management, and genetic counseling information.
o Peer-reviewed chapters typically focus on a single gene or phenotype/disorder.
OMIM (Online Mendelian Inheritance in Man)
o Overviews of Mendelian disorders and genes associated with disease.
o Search for symptoms/physical features to find clinical synopses.
o Variants found in patient samples
o Assertions regarding variants' clinical significance.
Genetic Competencies & Educational Resources for Clinicians
Genetic Competency Guidelines & Educational Materials
o Genetic competencies for physicians, nurses, physician assistants, pharmacists, and genetic counselors.
Universal Genomics Instructor Handbook and Toolkit
o Materials for educators implementing introductory training in genomic medicine for physicians.
Genetics and Genomics for Health Professionals (NHGRI)
o Genetics and genomics information related to patient management, curricular resources, and ethical, legal and social issues.
The New Genetics (National Institute of General Medical Sciences)
o Overview of the role of genes in health and disease, the basics of DNA and RNA, and new directions in genetic research.
CDC Public Health Genomics Knowledge Base
o Curated database of scientific literature, guidelines, and commentaries that address the translation of genomic discoveries into improved health care and disease prevention.
Clinicians Toolbox - Implementing Genomics in Practice
o Clinical decision support & integration of genetic information in EHRs.
o Genetic testing & reimbursement.
Medical Genetics Literature in PubMed
Two ways to efficiently identify PubMed references relating to medical genetics:
- Use the Medical Genetics clinical filter which can be found under "Clinical Queries"
- Locate a MeSH term that describes the topic you're interested in, and then add the "genetics" subheading. For example: "Cardiomyopathy, Hypertrophic/genetics"[Mesh]
Clinical Genomics (2015) by
Provides an overview of the next-generation sequencing (NGS) technologies that are used in clinical diagnostic laboratories. Also focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting.
Genetic Variants in Test Results
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