Genetic Disorder Information on the Web
Information furnished by resources described in this
guide should not be used as a substitute for consultation with a physician.
Questions or concerns regarding a medical condition should be discussed
with a professional, such as a physician, genetic counselor, or medical
This guide to genetic
disorder resources includes portals that direct users to medical information
produced and maintained by third-party sources. Even though some Web sites
institute review and selection policies to regulate the quality of their
links, users must be able to judge the legitimacy of material they encounter
on the Web. See the Evaluation
Guide for some tips and links to resources for evaluating Web sites.
Types of resources
described in this guide:
of Genetic Disorders
to Medical Information
Groups and Organizations
Genetic Health Professionals
Tests and Testing Laboratories
See the Sample
Profiles to access case studies that serve as examples of the kinds
of information you can find using the resources described in this guide.
To learn more about
the genes and proteins related to a particular genetic disorder, see Gene
and Protein Database Guide.
Overviews of Genetic Disorders
resources provide genetic disorder information that can answer some of
the following questions:
- What is the
disorder and how do you get it?
- How common
is the disorder?
- Does this disorder
affect certain populations more than others?
- What are the
symptoms and how is it diagnosed?
- How is the
Developed by the University of Washington and Children's Health System
in Seattle, this database is a collection of expert-authored, up-to-date
information relating genetic testing to the diagnosis, management, and
counseling of individuals and families with inherited disorders. For
authoritative information about genetic disorders consult the GeneReviews
database. In addition to GeneReviews, this Web site also features
directories of genetics laboratories and clinics and online educational
materials, such as an illustrated genetics glossary. This resource is
funded by the National Institutes of Health, the Health Resources and
Services Administration, and the US Department of Energy.
GeneTests no longer requires registration for general users of its Web
resources. To search for genetic disorder information, click on GeneReviews
from the GeneTests home page, then click on the Proceed
to GeneReviews search
link on the left to access the GeneReviews search page. At
the search page there are several different options
for searching this database of genetic disease information.
Provided: The summary for each disease in the GeneReviews
database is written and reviewed by physicians, so the language is similar
to that of a medical text. The intended audience appears to be healthcare
professionals and those with some understanding of the genetic mechanisms
of disease. In addition to disease characteristics, diagnosis and testing,
therapies, and counseling, each entry presents concise summaries of
the genetic science behind the disease. Summaries contain the mode of
inheritance, the gene involved and its locus, normal and abnormal gene
products, and links to genomic databases. Suggested readings, links
to selected disease organizations, and a list of cited literature also
This resource is a collection of information on selected genetic diseases
provided by the National Center for Biotechnology Information (NCBI).
About 80 different genetic disorders are featured, and most result from
a mutation in a single gene.
Navigate this site by clicking on chromosome numbers across the top
of the main page or on types of genetic disorders listed on the left.
Clicking on the chromosome number will display a map of four chromosomes
at once, with the names of selected genetic disorders associated with
the chromosome. Click on the disorder name to find its entry. A complete
of all genetic disorders featured at this resource also is provided.
Provided: Each entry contains a brief overview of the specific disorder
and links directly to related OMIM, PubMed, and LocusLink database records.
A Genome View link lets users see where the gene can be found within
the human genome. Links to news and other information from reliable
sources also are provided.
Genes, Your Health
This Web site is a multimedia guide that describes causes, inheritance,
symptoms, diagnoses, treatments, and other features for selected genetic
disorders. This site is funded by the Josiah Macy, Jr. Foundation and
was created by the Dolan DNA Learning Center Cold Spring Harbor Laboratory
in New York.
No search feature is provided for this Web site. Simply select a disorder
from the home page.
Provided: Although this Web site only features a few genetic disorders,
each disorder profile is a rich source of information with illustrations,
animations, video and audio clips that describe the disorder, the science
behind it, and what it is like to live with the disorder.
medical Web sites provide overviews of a wide variety of medical conditions,
and may include overviews for some of the more common genetic disorders.
The mission of MayoClinic.com is to provide tools and up-to-date information
that the public can use to better manage their health. Besides providing
overviews of diseases and conditions, some of the other features of
this Web site include: a searchable database of more that 8,000 prescription
and over-the-counter drugs; information and tools for healthy living;
and an archive of questions that have been answered by Mayo
Clinic health specialists. Options to subscribe to a weekly newsletter,
or to register with MayoClinic.com to create a personalized "My
Health Interests" page also are available.
To find overviews of a particular disorder, search by keyword in the
search box near the upper right corner of the home page or browse the
A-Z index of conditions
Provided: Each entry for a disease or condition may cover some of
the following topics: signs and symptoms, causes, risk factors, when
to seek medical advice, screening and diagnosis, complications, treatment,
prevention, self-care, and coping skills.
Merck Manual of Diagnosis and Therapy
pharmaceutical company Merck
makes the contents of its seventeenth edition of The Merck Manual
of Diagnosis and Therapy (also known as The Merck Manual)
freely available from its Web site. A printed version of this text is
available for purchase. This manual is published in fourteen languages,
and is one of the world's most widely used medical references for diseases,
diagnosis, prevention, and treatment. It covers thousands of topics
organized in a hierarchical structure of 23 sections and 308 chapters.
Before beginning, be sure to read through the Navigation
Help. Users can browse Web site using the Table
of Contents or search by disorder keyword using the search box available
at the top of each page. Since there is no section on genetic disorders,
entries for hereditary conditions are dispersed throughout the 23 sections
of the text. For example, the entry for cystic fibrosis is found under
Chapter 19: Pediatrics, and hemochromatosis is found under "Iron
Overload" in Chapter 11: Hematology and Oncology. The quickest
way to see if this manual covers a particular genetic disorder is to
use the search option.
Provided: A chapter for a particular condition will be broken down
into sections such as: incidence and etiology; pathology and pathophysiology;
symptoms, signs, and complications; diagnosis and laboratory findings;
prognosis; treatment. Chapter
286: General Principles of Medical Genetics is a good introduction
to some important genetics concepts. The Merck Manual of Diagnosis
and Therapy is a reference for health care professionals, so some
of the medical terminology may be too specialized for lay audiences.
Merck Manual of Medical Information--Home Edition
While the The Merck Manual of Diagnosis and Therapy is targeted
to health care professionals, The Merck Manual of Medical Information--Home
Edition (2000) provides similar information on disease diagnosis
and treatment using language that is more appropriate for general audiences.
A printed version of this text is available for purchase. The manual
is broken down into 24 sections of 287 chapters. The first few sections
of the second edition
published in April 2003 are also available online.
The Merck Manual of Medical Information--Home Edition is available
in two different versions online: text and interactive. While both versions
include the complete content from the printed version of the manual,
the interactive version is enhanced with photos, animations, video clips
and term pronunciations. Users can browse the text version using the
of Contents or search
by disorder keyword. A link to the interactive version opens a new window
from the home page. The interactive version has its own navigation,
help features (check out the Quick Start Guide
and A Guide for Users before you begin), search
interface, and subject index.
Provided: While the coverage of genetic disorders is limited, a
chapter for a particular condition may include the following sections:
symptoms, diagnosis, prognosis, treatment. Links to additional resources
and audio clips that demonstrate term pronunciations are available from
the interactive version. Chapter
2: Genetics introduces some basic genetic concepts. The interactive
version of Chapter 2 includes illustrations, photos, animations.
WebMD Health is one of the leading providers of reliable consumer healthcare
information on the Web. Some of the many features of WebMD Health include:
a NewsCenter for accessing the latest health news headlines; resources
for looking up symptoms, disorders, drugs & herbs, and doctors;
family genetics information; clinical trials resources; and online tools
for assessing and managing your health. By registering with WebMD Health,
users can customize the WebMD home page, ask medical experts questions,
access chat rooms, or post and reply to WebMD Health discussion boards.
To find overviews of a particular disorder, browse the disease and condition
or search by disorder keyword using the Search box at the top of each
Provided: Each entry for a disease or condition may include some
of the following sections: cause, symptoms, what happens, what increases
your risk, when to call a doctor, exams and tests, treatment, prevention,
home treatment, surgery, other places to get help, references, and credits.
Entries for less common disorders may be provided by the National
Organization of Rare Disorders.
Genetic Health Professionals
to Medical Information
engines, directories, and reviewed collections of links that serve as
portals to government publications, organizations, support groups, and
other resources on the Web.
A good starting point for up-to-date, quality material on diseases and
health conditions, MEDLINEplus serves as a gateway to information provided
by the National Library of Medicine (NLM), the national Institutes of
Health (NIH), and other government and nonprofit health organizations.
Locate specific disorders by typing keywords into the search box on
the main page or by selecting the Health Topics link and browsing the
alphabetical listing of topics. If you cannot find an entry for a particular
genetic disorder, try searching the medical
encyclopedia or go to the Health Topics entry for Genetic
Disorders; this entry includes links to fact sheets and other online
publications about various genetic conditions. To learn more about using
MEDLINEplus take the tour
or read the Frequently
Provided: Health Topics entries link to government and nonprofit
online resources that describe disease characteristics, who is affected,
diagnostics, testing, screening, therapies, and treatments. Users are
guided to online news articles and other resources.
Developed by the U.S. Department of Health and Human Services, this
site serves as a gateway to online health resources that have been reviewed
and chosen according to the healthfinder selection
policy. Healthfinder focuses on resources made available to the
public by government agencies, nonprofit organizations, and universities.
Users can search this database of health-related information by
browsing alphabetical lists of topics
or by using the search box located on each page. A directory
of organizations also is included. A Spanish
version of the site is available. For more about using healthfinder,
see the Search
Tips page and other resources from the Help
Provided: Selected links in the healthfinder library come from a
wide range of medical resources such as databases, clearing houses,
Web sites, online publications, support groups, and trustworthy nonprofit
organizations. Each link retrieved in the search shows a healthfinder
summary. Each summary includes the URL and a brief description of an
organization or online document.
Health on the Net Foundation
The nonprofit Health on the Net Foundation based in Geneva, Switzerland,
provides two types of search services—MedHunt and HONselect. MedHunt
is a full-text search engine similar to Alta Vista or Lycos that retrieves
only health or medical Web sites. HONselect
is a search integrator that lets users retrieve selected material on
particular health topics. This foundation also developed the HON
Code of Conduct, a system of eight ethical principles, to serve
as a guide for those who publish medical content on the Web. Use of
this code of conduct is voluntary, and compliance is self-regulated.
For tips on searching MedHunt see the Help
file for this resource. In HONselect, users can explore a hierarchy
of MeSH terms (official National Library of Medicine (NLM) Medical
Subject Headings), select a subject from one of four general categories,
or query the database by typing a phrase, word, or part of a word into
the search box. For more about using HONselect, see the Help
Provided: MedHunt query results are retrieved from a catalog of
Web pages created by a robot called MARVIN that regularly seeks out
health-related Web sites. MedHunt results are links collected by an
automatic system and have not undergone a manual review or selection
process. Each HONselect search result may include some of the following
types of information: Mesh terms and descriptions, links to Web resources,
links to journal article citations in MEDLINE, health news, and medical
Ask NOAH About: Genetic Disorders
This section of NOAH:
New York Online Access to Health is a work in progress collection
of resources relating to genetic diseases. But genetic disease is just
one of many Health
Topics featured at the NOAH Web site. NOAH was created in 1994 by
a group of New York City library organizations as a resource for guiding
consumers to high quality health information available in both English
and Spanish. The site is managed by a librarian and several volunteer
page editors. The guidelines that NOAH uses to select sites is available
the links: How NOAH selects material.
Simply browse the listing to locate a particular genetic condition.
Provided: The amount of information available for each disease may
addition to providing information on specific conditions, NOAH also
includes links to resources on genetics basics, genetic testing and
counseling, gene therapy, pharmacogenomics, and living with genetic
Open Directory Project: Genetic Disorders
This Web site, part of the Open Directory Project, is just one of many
different categories that contain links annotated and updated by a community
of volunteer editors. This category focuses only on genetic disorders.
Simply browse the listing to locate a particular genetic disorder.
Provided: A collection of annotated links specific to each disorder
is provided. A brief description of each disorder can be accessed by
clicking on Description
in the upper right corner of this Web page.
Support Groups and Organizations
DIRLINE (Directory of Resources Online) is a database of health information
organizations maintained by the National Library of Medicine. The database
contains more than 10,000 records pertaining to health and biomedicine.
Besides covering a variety of diseases and health conditions, the database
also includes information on topics such as maternal and child health,
health services research and technology assessment. For more information
see the DIRLINE
The simple search interface can be queried by disorder keywords, including
Subject Headings (MeSH), or by organization name or acronym. All
records are indexed using MeSH terminology. Besides keyword searching,
users also can browse the index to find records grouped by common subject
Provided: Each record is highly structured and includes organization
name and contact information, Internet address, and a brief abstract.
Genetic Alliance is a national coalition of consumers, professionals,
and genetic support groups that work together to address the common
concerns of children, adults, and families living with or at risk for
genetic conditions. The Alliance works to support individuals affected
by genetic disorders, educate the public, and promote consumer-informed
With the Online
Directory of Genetic Resources, search by condition name, organization
name, or service offered to find support groups. An option for browsing
the entire directory also is available. Each search will retrieve a
list of links to organization profiles. Disease
InfoSearch is a new Genetic Alliance resource designed to help general
audiences find quality information about specific genetic conditions.
More than 60 conditions are featured in Disease InfoSearch. For
questions, comments, or referrals for disorders not listed in the database,
call the toll-free Helpline at 1-800-336-GENE between 9am and 6pm EST.
Provided: The Online Directory of Genetic Resources provides profiles
of organizations related to each search. Each profile includes contact
information and descriptions of services and materials available from
the organization. In addition to providing profiles for support groups
and associations for each condition, Disease InfoSearch also links to
related resources from Genetic Alliance and other public databases.
Organization for Rare Disorders
The National Organization for Rare Disorders (NORD) is supported by
more than 140 voluntary health organizations serving people with rare
disorders and disabilities. (NORD defines a rare or "orphan"disease
as one that affects fewer than 200,000 people in the United States).
NORD maintains the Rare Disease Database comprising more than 1100 disorders,
an Organizational Database, and an Orphan Drug Designation Database.
To find information about a particular disease, browse the alphabetical
of Rare Diseases or search the Rare
Disease Database by keyword. To find support groups and other associations,
search the Organizational
Database by disease or organization name. To learn more about new
and experimental drugs, search the Orphan
Drug Designation Database.
Provided: Each organization record provides the name and contact
information, Web address (if available), and mission and services. Each
entry in the Rare Disease Database features synonyms for disease name,
brief abstract describing the disease, and links to support groups.
Disease report abstracts are provided for free, but the full-text version
of these reports, which are written by medical writers and reviewed
by physicians, must be purchased from NORD. Each orphan drug entry includes
the drug name, the trade name, and a brief description of the drug's
role in disease treatment.
Support Groups and Organizations Arranged Alphabetically by Disease
of Online Genetic Support Groups - Maintained by the Mountain States
and Rare Conditions Support Groups Site - Maintained by the Genetics
Education Center at the University of Kansas Medical Center.
Support Groups for Chromosomal Disorders
Chromosome Deletion Outreach (CDO), an international nonprofit organization,
works to educate and support people affected by disorders arising from
chromosome abnormalities such as duplication or deletion. The site provides
support and explains how the loss, gain, or rearrangement of genetic
material that occurs with many chromosomal disorders can affect a person's
health and development.
No search feature is provided for this Web site.
Provided: The CDO Web site features family stories, FAQs, Ask the
Doctor section, CDO Library that lists articles by disorder type (copies
of articles can be requested), research projects on select disorders,
and listing of chromosome abnormalities registered with CDO. To learn
more about some of the different types of chromosome abnormalities,
Introduction to Chromosomes.
Unique is a support group based in the United Kingdom that focuses on
rare chromosome disorders. Membership is free for affected families.
No search feature is provided for this Web site.
Provided: The site includes contacts for Unique, describes the group's
goals and services, and lists chromosome disorders registered with Unique.
Visitors can download the PDF file "The Little Yellow Book," which provides
a basic understanding of chromosomes and rare chromosome disorders.
Genetic Health Professionals
Developed by health-related agencies of the US federal government, the
Combined Health Information Database (CHID) is a bibliographic database
of health and education resources. The database is updated four times
a year. Although CHID plans to add new health topics, it currently covers
only a limited number that are listed on the Database
Users can query the database by disorder name using the simple or detailed
search interface. Boolean operators, phrase searching, and wildcard
search features are supported. See the Help
page for more on searching.
Provided: Please note that this is not a full-text database. Each
record describes a document using the following types of fields: title,
author, format, audience code, availability, sponsor, abstract, and
descriptors. Some resources described in the records may be available
in full-text online, but many may need to be ordered or accessed through
Developed by the National Center for Biotechnology Information (NCBI)
at the National Library of Medicine, PubMed is an information-retrieval
system that offers free access to the MEDLINE database of citations
to biomedical literature. PubMed is part of the NCBI Entrez system,
which can access other bioscience databases that store sequence, structure,
and mapping data. The MEDLINE database comprises more than 12 million
records from thousands of life science journals dating back to 1966.
As part of the Entrez search-and-retrieval system, PubMed provides a
variety of services and features for optimizing a search strategy or
manipulating search results. Some of these are Boolean operators; phrase
searching; truncation; Search Fields and Qualifiers; as well as the
Limit, Preview/Index, and History options. The Boolean operators AND,
OR, and NOT must be entered in uppercase. Due to the detailed nature
of this search-and-retrieval system, new users should take the PubMed
Tutorial or review the PubMed
Help, or FAQs
before beginning a search.
Provided: Cited articles primarily are from scholarly, peer-reviewed
journals and intended for biomedical researchers, so they may include
highly scientific and technical jargon. Users can view search results
in a variety of formats. Many citations contain abstracts and links
to full-text articles at the Web sites of participating publishers.
In addition, some records will link to other biological databases maintained
by NCBI. If the full-text version of an article is not available online,
PubMed users can order the article through NLM's Loansome Doc document-ordering
system (registration and service fee usually required) or try searching
journal collections at their closest university or medical library.
Genetic Health Professionals
Locating Genetic Health Professionals
If you have been
diagnosed with a genetic disease or have been recommended for genetic
testing, your doctor should refer you to a genetic counselor or medical
geneticist. With specialized backgrounds in medical genetics and counseling,
genetic counselors work with medical personnel (usually M.D. Medical Geneticists)
to give information, answer questions, and offer support to persons and
families who have genetic disorders, are undergoing gene testing, or may
be at risk for inheriting genetic disorders. They conduct one-on-one counseling
in helping people understand the disease, its implications for their lives
and the lives of family members, and their testing and treatment options.
For more about what genetic counselors do, see the Human Genome Management
Information System (HGMIS) Genetic
Counseling page or What
is a Genetics Consultation? provided by GeneTests.
Resources for Locating Genetic Counselors By Area
Society of Genetic Counselors: Use ResourceLink
or browse the FAQs
about Genetic Counseling for the Consumer.
Board of Genetic Counseling: Search the Membership
Directory, a combined listing of members of the American Society
of Human Genetics, Genetics Society of America, American College of
Medical Genetics, American Board of Medical Genetics, and American Board
of Genetic Counseling. For a list of all members in a particular city
or state, enter the location without entering any names.
Association of Genetic Counselors: Read or download a list
Acrobat Reader to view) of Genetic Centres across Canada.
are M.D.'s, Ph.D.'s, or M.D.-Ph.D.'s with specialized training in the
diagnosis of genetic disorders. To find a medical geneticist in your
region, contact the American
College of Medical Genetics (ACMG) or search the Membership
Directory. For a list of all members in a particular city or state,
enter the location without entering any names.
Genetic Health Professionals
Tests and Testing Laboratories
PLEASE NOTE: Genetic
testing is a complex medical technique that is not without its risks and
limitations. The possibility of laboratory errors, difficulties associated
with interpreting test results, lack of treatment options for certain
genetic disorders, and the absence of federal regulation related to handling
personal genetic data all are factors that may outweigh the benefits associated
with taking a particular genetic test. Please see our sections on Gene
Testing and Genetics
Privacy and Legislation.
GeneTests provides reliable, up-to-date genetic counseling and testing
information for consumers and healthcare professionals. In addition
to providing disorder information through GeneReviews (see description
above), the GeneTests Web site also features a Laboratory
Directory and a US
Clinic Directory. Educational materials are also available. Laboratory
and clinic directories are not comprehensive, and inclusion in them
The Laboratory Directory is searchable by disease name, official gene
symbol, gene locus, disease feature, OMIM number, laboratory services,
director name, laboratory name, and location. An advanced search option
also is available. Search the US Clinic Directory by selecting a state,
service, and specialty from the lists provided. An International Clinic
Directory is also available.
Provided: Before searching directories, browse the Educational
Materials for a general introduction to genetic testing, consultation,
and considerations when ordering a genetic test. The Laboratory Directory
is a database of laboratories all over the world, with an emphasis on
those in North America. For searches that return disorder names, click
on the Testing link to access laboratory
information. Each laboratory entry provides contact information, testing
methodology, diseases tested, Web site (if available), and information
on ordering and using tests.
The Clinic Directories
provide contact information for clinics that focus on the genetics and
prenatal diagnosis of inherited disorders. Each genetics clinic entry
includes the clinic name, contact information, Web site (if available),
specialties, and diseases for which the clinic provides services.
European Directory of DNA Diagnostic Laboratories
The European Directory of DNA Diagnostic Laboratories (EDDNAL) is a
directory database of European laboratories that conduct DNA-based diagnostic
tests. It shows contact names and addresses and details services on
more than 500 genetic diseases.
From the home page, select Search
at the top of the page to search for laboratories by disease name, disease
OMIM number, laboratory contact person, laboratory, or country.
Provided: Each entry includes the laboratory name, address, and
contacts. Some laboratory entries also include links to the laboratory
Web site, a link to a list of disorders tested at the laboratory, and
a link to a list of publications and research interests.
Genetic Health Professionals
Clinical Trials Resources
Clinical trials are research studies that test new medical treatments
on human subjects. Volunteering for these studies is an important personal
decision. Before beginning your search, learn more about what clinical
trials are, what questions to ask, and what to expect from the
ClincalTrials.gov Resource Information or the National Cancer Institute's
in a Trial: Questions to Consider."
ClinicalTrials.gov was developed by the National Library of Medicine
at the National Institutes of Health (NIH) in collaboration with other
NIH institutes and the Food and Drug Administration. The site provides
information on clinical trials sponsored by federal agencies such as
NIH as well worldwide trials sponsored by the pharmaceutical industry.
Most clinical trials in the database are located in the US and Canada.
Visitors can search for clinical trials by typing terms into the basic
search box on the main page or using the Focused
Search, which offers more options for refining a search strategy.
Listings of clinical trials organized by condition or sponsor also are
Provided: Each entry for a particular clinical trial describes the
study's purpose, eligibility requirements for participants, location,
contacts, and links.
In addition to furnishing information about clinical trials to patients
and healthcare or research professionals, CenterWatch publishes newsletters,
books, and directories and conducts custom research for patients and
professionals. Through the Web site, CenterWatch presents one set of
resources targeted to patients and the general public and another to
Listings link on the home page leads to a screen where users can
browse listings of conditions or query the database of clinical trials.
Keyword searches support wildcards, phrase searching, and Boolean operators
(AND, OR, and NOT). To search for clinical trials available worldwide
World. See the CenterWatch
QuickSearch Help page for more about searching the database.
Provided: Each clinical-trial entry contains a brief summary and
contacts. Many entries have a Web-based form for requesting information
about the study. The Email
Notification Service automatically sends an e-mail when CenterWatch
adds a new trial of interest. Other features targeted to patients include
introductory material about clinical trials, searchable drug directories,
links to additional resources, and an online book store.
Genetic Health Professionals