| Core
Clinical Genetics Resources |
| The development of knowledge in genetic medicine is exceptionally
rapid. Health practitioners in all specialties increasingly require
ready access to regularly updated, authoritative information to
facilitate predictive testing, screening and diagnosis of inherited
diseases. Disease specific information is also needed to optimize
the care of patients who have or who are at risk of developing genetic
disorders.
We have identified the following five databases and books as resources
most likely to address the needs of the clinician. Only regularly
updated, online materials are included. All are either free or are
licensed for Mount Sinai users.
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GeneTests
GeneTests provides current, authoritative information
on genetic testing and its use in diagnosis, management, and genetic
counseling. It was developed for physicians and other clinicians
to address needs that arise in both general practice and genetic
medicine specialties.
Information and Resources
- GeneReviews
Over 350 expert-authored, peer reviewed, disease specific
reviews focused on the application of molecular genetic testing
in patient diagnosis, management, and genetic counseling. GeneReviews
also provide links to related patient resources, genomic databases,
and MEDLINE citations. Topics are updated at least every two years.
Note: GeneReviews was previously known as GeneClinics.
- Laboratory Directory
The GeneTests Laboratory Directory lists U.S. and international
laboratories offering in-house molecular genetic testing, specialized
cytogenetic testing, and biochemical testing for inherited disorders.
Listings are divided into Clinical Laboratories and Research Laboratories.
The directory also provides links (when available) to related
GeneReviews, registries, consumer health resources, laboratory
Web sites, and OMIM. Updated at least yearly.
- Clinic Directory
The Clinic Directory lists U.S. and international clinics
providing genetic evaluation and genetic counseling. It includes
services provided (adult genetics, cancer genetic counseling/risk
assessment, pediatric genetics, preimplantation genetic diagnosis,
prenatal diagnosis, and/or telemedicine). It also provides contact
information for appointments, links to clinic Web sites (if available)
and information about clinic staff certifications and credentials.
- Educational Materials
An illustrated glossary and three educational modules
review the terminology of genetic testing and the appropriate
use of genetic counseling and testing.
Search Tips
- Search GeneReviews
Click the GeneReviews tab at the top of the GeneTests
home page. Enter a disease name or select another search option
(e.g., gene, protein name, OMIM number). The
ability to browse by clinical disease feature or title is especially
useful.
- Locate a Laboratory
Click the Laboratory Directory tab at the top
of the GeneTests home page. Enter a disease name or select another
search option (e.g., gene, OMIM number, services, location, laboratory
name). It is also possible to browse by disease feature or services.
- Locate a Clinic
Click the Clinic Directory tab at the
top of the GeneTests home page. Select a State and service, or
link to an International Clinic Directory or to Directories of
Genetics Professionals.
GeneTests is funded by the National Library of Medicine, and the
National Human Genome Research Institute of the National Institutes
of Health (NIH) It was developed at and is sponsored by the University
of Washington, Seattle, Washington.
GeneTests is freely available on the Web at http://www.genetests.org |
OMIM:
Online Mendelian Inheritance in Man
Online Mendelian Inheritance in Man (OMIM) is
a catalog of inherited, or heritable, human genetic diseases, traits,
and disorders. OMIM provides summaries of genetic disorders, and
it can be searched by clinical symptoms, making it a valuable reference
and diagnostic aid for clinicians. It is updated daily.
Information and Resources
The amount of information included in each OMIM entry varies depending
on how much is known about a particular gene or condition. Information
and services in OMIM records that are useful to the clinician include:
- Over 4600 clinical synopses of what is known about a particular
gene, trait, or disorder
- Descriptions of genetic conditions and how they are inherited
- Links to GeneTests
- The functions of genes and the proteins they encode
- Copious reference material, including links to literature citations
in MEDLINE
- Links to related OMIM entries
Note that most conditions that are due to a chromosomal aberration,
such as monosomy or trisomy, do not have entries in OMIM.
OMIM is also considered to be a phenotypic companion to the human
genome project. It is tightly integrated with other databases at
the National Center for Biotechnology Information (NCBI), such as
gene sequence databases. These features are particularly useful
to genetics researchers and advanced students in science and medicine.
Search Tips:
OMIM offers several search options; generally, clinicians will prefer
to search for information about specific genes, traits, or disorders
using the default Search page.
- Basic OMIM Search:
Enter a disease name, the disease features to be considered in
a diagnosis, a chromosome number, or a gene symbol into the search
box at the top of OMIM's Search page and click GO.
Then click the 6 digit MIM
number to see the clinical synopsis, when available.
- Many diseases are known by several synonyms; OMIM
will automatically map search terms to cover multiple ways
of referring to the same anomaly.
- It is not usually necessary to use the word "AND"
to connect search words.
- Limit to Clinical Synopsis
A clinical synopsis is not available for every disease-related
OMIM record. To retrieve OMIM records that have a clinical synopsis:
- Click the LIMITS tab under the search box
at the top of the OMIM Search page
- Under the 'Only Records with' header, check
the box for Clinical Synopsis. Then click
the Go button at the top of the Limits page.
Note: Each OMIM entry is given a unique six-digit
number. The MIM number (also known as the OMIM
number) is a standard used by many researchers and organizations
to identify genes and genetic conditions. The first digit indicates
the mode of inheritance of the gene involved. See OMIM FAQ's to
learn more about the OMIM
numbering system.
OMIM is based upon the print text Mendelian Inheritance in
Man: McKusick, V.A. Mendelian Inheritance in Man.
12th ed., Baltimore: Johns Hopkins University Press, 1998.
OMIM is provided free on the Web by NCBI, the National Center
for Biotechnology Information, at http://www.ncbi.nlm.nih.gov/omim.
Mount Sinai users should access OMIM from the Levy Library Databases
page. Accessing OMIM through the Library allows you to connect directly
from OMIM to many of the Library's licensed online resources. |
OMMBID:
The Metabolic and Molecular Bases of Inherited Disease
OMMBID is a comprehensive treatise on genetic
disorders and information from the field of genetics. It is updated
at least quarterly.
Information and Resources
- This text focuses on molecular and metabolic anomalies and
the resulting pathophysiology of genetic diseases
- Information on diagnosis, testing and screening, genetic counseling,
clinical management and gene therapy is available for many disorders
- Includes chromosomal anomalies as well as inherited genetic
disorders
- Extensive coverage of cancer genetics
- Multimedia tools include full color figures and 3D representations
- Chapters may be printed in PDF format
- Links to OMIM, PubMed and GeneReviews
are available from the text
- OMMBID Supplements, available only online, are original articles
that summarize discoveries in medical genetics that impact the
practice of clinical medicine or advance the understanding of
human malformation.
Search Tips
- OMMBID uses the Google search engine. Clinicians will
probably prefer to search by disease or disorder rather browse
the book by chapter.
- Link from the search results to open a section of a chapter.
Then click View Contents in a Separate Window (available
in the left sidebar). A menu will open, providing links to diagnosis
and management, if available.
The Online Metabolic & Molecular Basis of Inherited Disease
is based on the four volume print text: The Metabolic &
Molecular Bases of Inherited Disease, 2001, 8th edition, edited
by Charles R. Scriver et. al. and published in New York by McGraw-Hill.
OMMBID is a licensed resource. Mount Sinai users may access it
through the Levy Library Databases
or E-Books pages. |
PubMed
Clinical Queries: Medical Genetics Searches
Medical Genetics Searches in PubMed's Clinical
Queries service allows you to quickly search MEDLINE with built-in
filters to find the latest journals articles on various clinical
topics in genetics.
Information and Resources: Clinicians may find
filters for clinical topics such as Differential Diagnosis,
Genetic Counseling, and Genetic Testing
especially helpful.
Search Tips
- Link to Clinical Queries from PubMed's left sidebar under "PubMed
Services". Then scroll down or click the link to Medical
Genetics Searches.
- Leave the Categories check boxes filled in to retrieve information
on all study categories. Or, click in the boxes to narrow to one
or more search categories.
- Enter your search terms into the Medical Genetics search box
and click Go.
The filters for Medical Genetics Searches were developed in conjunction
with the staff of GeneReviews at at GeneTests,
University of Washington, Seattle.
PubMed is freely available at http://www.pubmed.gov.
Mount Sinai users should access PubMed from the from the the Levy
Library Databases
page. Accessing PubMed through the Library allows you to connect
directly from PubMed to many of the Library's licensed online articles. |
Genetics
Home Reference
Genetics Home Reference is the National Library
of Medicine's Web site for consumer information about genetic conditions
and the genes or chromosomes responsible for those conditions. Genetics
Home Reference offers a user-friendly search interface and straightforward
summaries of genetic disorders. It is excellent resource for patient
education and counseling. Links from summaries to related entries
in professional resources such as OMIM, GeneReviews,
PubMed
and Clinical Trials.gov
may also make Genetics Home Reference useful to clinicians. Content
is reviewed by experts and updated at least annually.
Information and Resources
- More than 175 Condition Summaries explain the condition's genetic
cause and pattern of inheritance. Condition Summaries link directly
to related Gene Summaries or Chromosome Summaries and to more
detailed information about the condition.
- Over 275 Gene Summaries provide the official name and symbol
of a gene, its chromosomal location, and an explanation of its
normal function and how mutations in the gene cause particular
genetic conditions.
- Chromosome Summaries are available for each of the 23 pairs
of human chromosomes. They provide an estimate of the amount of
DNA and the number of genes for each chromosome.
- Help Me Understand Genetics Handbook is an illustrated,
basic explanation of how genes work and how mutations cause disorders.
It also includes current information about genetic testing, gene
therapy, and the Human Genome Project.
Search Tips
- Enter keywords into the search box and click Go.
Genetics Home Reference automatically searches for synonyms for
search terms. Boolean searching is also available.
- It is also possible to browse a directory of genetic conditions,
genes and chromosomes.
Genetics Home Reference is freely available on the Web at http://ghr.nlm.nih.gov. |
| Please read the library's statement concerning licensing
restrictions.
Have a Question? Please contact us at ext. 47204
or send an email to: Ask
a Librarian
Last updated September, 2006
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