Tag: GeneReviews

Using NCBI resources to research, detect, and treat genetic phenotypes

Using NCBI resources to research, detect, and treat genetic phenotypes

Clinical Genetics Information at Your Fingertips

NCBI offers a portfolio of medical genetics resources to help you research, diagnose, and treat diseases and conditions. You can easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. We also encourage you to join our community of thousands of submitters and share your germline and/or somatic data to advance discovery and optimize clinical care. 

How and why should you use our resources? Consider the example below. 

Your patient is a 40-year-old mother of two presenting with changes in bathroom habits, bleeding, and belly pain. She has a medical history of colonic polyps. Her family history reveals that her maternal grandmother, mother and uncle had several forms of cancers including colon, breast, and endometrium. 

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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.

MedGen: Your search engine for human medical genetics

MedGen is a free, comprehensive resource for one-stop access to essential information on phenotypic health topics related to medical genetics as collected from established high-quality sources. It integrates terminology from multiple primary ontologies (or nomenclatures) to facilitate standardization and more accurate results from search queries.

Some things you can do in MedGen:

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May 2 webinar: Using NCBI’s MedGen in Clinical Practice

May 2 webinar: Using NCBI’s MedGen in Clinical Practice

Join us next Wednesday, May 2, 2018, 12:00 PM – 12:30 PM EDT for a webinar on MedGen, NCBI’s portal to clinical genetics. We’ll show you how to find information in MedGen on genetic phenotypes, clinical features of disorders, and more. You’ll also learn how to retrieve actionable information such as practice guidelines for a condition and get a list of available genetic tests in GTR, and how to easily access resources like GeneReviews, OMIM and ClinicalTrials.gov, the Genetic and Rare Diseases Information Center, and Medline Plus.

After registering, you will receive a confirmation email with information about attending the webinar. A few days after the live presentation, you can view the recording on the NCBI YouTube channel. You can learn about future webinars on the Webinars and Courses page.