Finding accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult task for almost everyone. We hope these tips will help you perform searches more easily.
As Internet users quickly discover, an enormous amount of health information is available online. The material provided is for informational or educational purposes only and is not intended as a substitute for professional medical care, advice, diagnosis, or treatment. This material does not represent an endorsement of any specific tests and products by the National Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot guarantee the accuracy, completeness, timeliness, or usefulness of the opinions, advice, services, or other information provided. Moreover, we strongly recommend that you seek the advice of your health care provider with any questions regarding your medical care.
Scientific and Medical Literature
Information on just about any disease can be obtained from the published scientific literature. Medical and scientific journals publish articles written for scientists and health professionals. In a process called "peer-review," other professionals review these articles before they are published.
Several types of articles can be found in scientific literature:
- Review articles:
These articles present what is known to date about a disease. Such articles may focus on the cause, diagnosis, treatment or other aspects of a disease.
- Basic science or laboratory research:
These articles present original "basic science" or "laboratory" research.
- Case reports:
These articles describe and discuss the clinical aspects of an individual with a disease. Such articles may also present unusual or unexpected cases.
- Articles discussing treatment:
These articles discuss the effects in humans of various treatments that have been tested or used in a specific disease. Articles that discuss treatment may be about many different types of studies that are conducted in humans. Some of the more common studies include clinical trials, case-control studies, cohort studies and case reports.
Treatment articles in published scientific literature report human studies with negative outcomes as well as those with positive outcomes. In other words, some articles report studies where a treatment was deemed to have beneficial effects, while others report studies where a treatment was not deemed to have beneficial effects and/or may have been associated with side effects, some of which could be severe.
Some studies report on the safety of a particular treatment, and do not directly address whether the treatment was actually deemed to have had a beneficial effect. The treatment discussed may be already in use, or it may be experimental and not widely available (or not available at all).
Interpreting the results of studies and weighing the evidence can be a very complex task. Because of this complexity, and because of the technical nature of these articles, we strongly recommend that you discuss with your physician any articles that interest you.
Internet Credibility Help from Genetic Alliance
The Access To Credible Genetics (ATCG) Resource Network has developed the Quality Assessment Toolbox to help create and evaluate educational materials. Families and health professionals can use the tool to judge the quality of currently available educational materials and to assist in the creation of new quality educational materials about genetic conditions.
- Genetic Testing Registry
A central location for voluntary submission of genetic test information by health care providers.
A service of the National Library of Medicine (NLM) and the National Institutes of Health (NIH), MedlinePlus offers high-quality information on more than 600 diseases and conditions. MEDLINEplus describes itself as "a goldmine of good health information from the world's largest medical library."
- Evaluating Health Information
To help people find reliable and scientifically accurate health information, MEDLINEplus has posted a series of documents and links called Evaluating Health Information, which provides news, information from NIH, information on research and specific conditions and links to organizations and directories.
- MEDLINEplus Guide to Healthy Web Surfing
To help users evaluate the potential quality and accuracy of online health information, MEDLINEplus has developed Healthy Web Surfing. Addressing issues such as the source and currency of the information can help us make better use of online resources.
Online Medical Dictionaries and Encyclopedias
Complex medical terminology can be difficult to understand. The Web provides some excellent resources to aid in our understanding of these terms and medical jargon.
- NHGRI Talking Glossary of Genetic Terms
The NHGRI Talking Glossary of Genetic Terms is meant to help everyone understand the terms and concepts used in genetic research. In addition to definitions, specialists in the field of genetics share their descriptions of terms, and many terms include images, animation and links to related terms.
- MEDLINEplus: Medical Encyclopedia
The A.D.A.M. (Animated Dissection of Anatomy for Medicine) illustrated health encyclopedia, a part of MEDLINEplus, contains more than 4,000 articles on conditions, treatments, and much more.
PubMed is NIH's searchable database of published scientific and medical literature. PubMed contains citations from 4,600 journals from the United States and 70 other countries. More than 12 million citations are available in MEDLINE, one component of PubMed.
Information for locating an article, its title, authors and when it was published is listed in PubMed search results. Using the condition name as your search term should locate articles that may be of interest to you. To narrow your search, click on the "Limits" box below the search box and specify the criteria you would like to use to locate articles that may be more relevant to your questions. For example, using the limits of only review articles (on the pull-down menu under "Publication Types"), only items with the condition name in the title, only items with abstracts, only items in English and only human studies, you should locate abstracts of specific interest.
PubMed searches provide citations on journal articles. Citations may include links to article summaries, or links to full articles (through "LinkOut"; see below). For copies of full articles, you can contact a medical/university library, contact your local library for interlibrary loan, or order them online.
- National Network of Libraries of Medicine (NNLM)
Designed to help you find health information from libraries in your area.
Provides access to full-text articles at journal Web sites and other related Web resources.
- PubMed Tutorial
How to use PubMed.
NIH and the Food and Drug Administration (FDA) developed ClinicalTrials.gov to provide patients, family members and members of the public with current information about clinical research studies and clinical trials that are enrolling individuals.
From the home page, you can enter terms such as condition names, study locations (cities or states), and descriptive terms for patients (such as adult or adolescent). After performing a search, there is a list of search results. Click on a study to review the study's "eligibility" criteria to determine if you or someone else would qualify. To learn more about the study, refer to the study's contact information.
Be sure to check ClinicalTrials.gov often for updates to study information.
Other Publication Search Engine Resources
BioMedSearch is a free biomedical search site that includes all of the National Institutes of Health (NIH) PubMed documents, plus many more (often in full text). It also has account features such as portfolios to save documents, the ability to share documents (and comment on them) between users and keyword-based alerts.
Other NIH Resources
Both websites also provide general information about clinical trials:
Frequently Asked Questions About Clinical Research (NHGRI)
Get Involved in Research [rarediseases.info.nih.gov]
The National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR) Web sites provide helpful information on genetic and/or rare diseases research, genetic/rare conditions, patient support groups and much more.
- The Genetics Home Reference
Genetics Home Reference is the National Library of Medicine's website for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
Other Sources of Information
Apart from the information listed above, several organizations are dedicated to helping individuals with genetic and rare diseases and provide an array of information.
- The Genetic Alliance
As a broad-based coalition, the Genetic Alliance builds partnerships to promote healthy lives for all those living with genetic conditions. The Genetic Alliance's Web site offers information on genetic conditions and issues related to genetic conditions.
- The National Organization for Rare Disorders (NORD)
NORD is a federation of not-for-profit voluntary health organizations serving people with rare disorders. You can search their site or obtain a printed report for a specific disorder by ordering it through NORD's Web site, by calling, or by writing to NORD.
- ORPHANET (English Version)
ORPHANET is a French multilingual database dedicated to information on rare diseases and orphan drugs for patients and their families, health professionals and researchers, support groups, and industry.