You may know . . .
- We offer expert-authored, peer-reviewed chapters on more than 750 genetic disorders.
- Our standardized format enables busy clinicians to readily find the information they need.
- Molecular genetic testing strategies are presented in the context of clinical care and genetic counseling implications.
- Tables link specific molecular genetic information to entries in OMIM (Online Mendelian Inheritance in Man), ClinVar, and genomic databases.
- Resource lists connect families to information and support.
- Links to actionable information for clinicians to find available Clinical Trials and genetic tests in the NIH’s Genetic Testing Registry (GTR).
- Chapters are continually updated to reflect changes in clinically relevant information, such as test availability and treatment protocols.
But do you also know . . .
- You can volunteer to create a GeneReviews® chapter in your area of expertise. Start by reading the information for prospective authors.
- Our Educational Materials, designed for health care professionals of varying experience with clinical genetics, augment our glossary to clarify genetics concepts.
- For genetics professionals, we summarize the latest information on:
- Imprinting errors and uniparental disomy (UPD) not detectable by sequence analysis
- Disorders caused by nucleotide repeat expansions/contractions
- Disorders with highly homologous gene family members or pseudogenes
- Founder variant tables compile, for the first time in one place, data to inform testing recommendations and clinical decision making for disorders more common in Finnish, Ashkenazi Jewish, Inuit, Yup’ik, Cree/Ojibway, and Navajo
- A succinct, one-stop information page on direct-to-consumer genetic testing gives medical professionals information they need in order to advise patients who have pursued testing on their own.
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