How well do you know GeneReviews®?


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.

Check our What’s New page for weekly new and updated postings.

The new BLAST results are now the default view


As you may know,  we have been offering a new BLAST results (Figure 1) as a test page since April.  In response to your positive reception and after incorporating many improvements that you suggested, we made the new results the default today,  August 1, 2019.

You will still be able to access to the traditional results for a several months. This will provide you additional time if you need it to adjust your workflows or teaching materials to the new display.

Thank you for the feedback on the new results.  We made several improvements to address issues or concerns that you pointed out.  You also told us about 17 additional features you would like us to add. We are working on incorporating these into the page and welcome additional suggestions.  Please let us know what you think.

blast_resultsFigure 1. The new BLAST results with filters directly on the page and a more concise tabbed output that includes the taxonomy report.  The link at the upper right (circled) retrieves the traditional BLAST results.