As Internet users quickly discover, an enormous amount of health information is available online. 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.
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:
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.
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.
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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.
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.
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.
Online Mendelian Inheritance in Man (OMIM)
OMIM is an electronic catalog of human genes and genetic disorders. The Web site was developed by the National Center for Biotechnology Information (NCBI), and contains text and reference information. Although the language is technical, OMIM is considered to be a very comprehensive source of information. Based on the complex information found in OMIM, you may benefit from discussing its contents with a medical professional. As with PubMed, you can search OMIM using terms and setting search limits.
Both Web sites also provide general information about clinical trials:
Frequently Asked Questions About Clinical Research (NHGRI)
Get Involved in Research [rarediseases.info.nih.gov]
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 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.
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Last Updated: September 1, 2015