the role of national library of medicine® web sites in newborn screening … · expanded newborn...

THE ROLE OF NATIONAL LIBRARY OFMEDICINE® WEB SITES IN NEWBORN

SCREENING EDUCATION

Cathy Fomous1 and Naomi Miller2*1Aspens Systems Corporation, Rockville, Maryland

2National Library of Medicine, National Institutes of Health, Bethesda, Maryland

Expanded newborn screening programs and subsequent detectionof rare genetic disorders challenge parents and their medical providers tolearn about the treatment and management of these disorders. Many peo-ple seek medical information on the Internet but may encounter requestsfor registration or fees, or find that resources are out of date, difficult tounderstand, or buried in advertisements. The U.S. National Library of Med-icine (NLM), a component of the National Institutes of Health, providesweb-based resources that address the challenges of newborn screeningeducation. These resources include MedlinePlus®, Genetics Home Refer-ence™, ClinicalTrials.gov, and PubMed®. NLM websites are not commercial,do not require registration or fees, and provide varied levels of informationfor a continuum of audiences from low-literacy consumers to health pro-fessionals. Using phenylketonuria as an example, this study describes theinformation that parents and their medical providers can find through NLMresources. NLM has embraced the digital age and provides the public withreliable, accurate, and up-to-date educational materials.

Published 2006 Wiley-Liss, Inc.†

MRDD Research Reviews 2006;12:305–312.

Key Words: newborn screening; consumer health education; rare dis-eases; MedlinePlus; National Library of Medicine; Genetics Home Reference

Newborn screening programs in the United States beganin the 1960s with a single test for phenylketonuria(PKU). In small increments, states expanded testing for

additional disorders. By 1999, most states screened for fewerthan 8 genetic disorders [National Newborn Screening andGenetics Resource Center, 1999]. The introduction of tandemmass spectrometry for newborn screening in the 1990s, how-ever, allowed detection of 30 or more metabolic disorders froma single specimen [Chace et al., 2003]. This technological ad-vance, coupled with recommendations for expanded newbornscreening [Newborn Screening Task Force, 2000; Health Re-sources and Services Administration, 2005], accelerated the in-crease in the number of disorders that are included in statenewborn screening programs. By 2005, half the states screenedfor 25 or more disorders [Therrell, 2005].

The challenge of educating healthcare providers and par-ents has intensified with expanded testing. Many of the disordersincluded in expanded screening programs are rare and may notbe well understood by medical professionals who provide treat-ment and educate parents [Newborn Screening. . . , 2005]. TheU.S. National Library of Medicine (NLM), a component of the

National Institutes of Health (NIH), provides resources thataddress the challenges of newborn screening education.

THE U.S. NATIONAL LIBRARY OF MEDICINE—ABRIEF OVERVIEW

For more than 170 years, NLM has served the medical,research, and library communities. NLM’s audience began toexpand in 1997, when access to the biomedical literature data-base MEDLINE® was made freely available on the Web. Asa consequence of free access, this resource—once used almostexclusively by medical librarians, scientists, and health profes-sionals—was discovered by the public [Lacroix and Mehnert,2002].

About 80% of U.S. Internet users have searched the Webfor health information [Fox, 2005], including information aboutgenetic disorders [Guttmacher, 2001; Taylor et al., 2001]. Con-sumers, however, assert that web sites with genetic informationare often hard to understand and difficult to navigate [Bernhardtet al., 2002; Mitchell et al., 2003]. Patient education web sitesthat are user-friendly and provide lay-language materials oftenfocus on a narrow range of disorders or charge a fee for thesematerials. With the growing public use of the Internet, NLMrecognized that consumers wanted a broad spectrum of healthinformation in easy-to-understand language. Beginning in 1998,NLM introduced new resources designed to help the generalpublic and professionals find a wide range of health informationthat is accurate and up to date.

NLM WEB-BASED RESOURCES FOR NEWBORNSCREENING EDUCATION

NLM has several web-based resources that provide infor-mation about newborn screening and rare disorders detectedthrough screening efforts. These resources include MedlinePlus,interactive health tutorials, Genetics Home Reference (GHR),ClinicalTrails.gov, and PubMed. They provide wide ranging

*Correspondence to: Naomi Miller, M.L.S., Public Services Division, National Library ofMedicine, 8600 Rockville Pike, Bethesda, MD 20894. E-mail: [email protected] 21 September 2006; Accepted 25 September 2006Published online in Wiley InterScience (www.interscience.wiley.com).DOI: 10.1002/mrdd.20125

MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIESRESEARCH REVIEWS 12: 305–312 (2006)

Published 2006 Wiley-Liss, Inc. †This article is a US Government workand, as such, is in the public domain in the United States of America.

levels of information for a continuum ofaudiences from low-literacy consumersto health professionals.

MedlinePlusIntroduced in 1998, MedlinePlus

(http://medlineplus.gov/) is NLM’s

consumer health web portal [Miller et al.,2000]. MedlinePlus brings together au-thoritative information from NLM,NIH, and other government agenciesand health related organizations. Medline-Plus also has extensive information aboutdrugs, an illustrated medical encyclope-dia, interactive patient tutorials, and thelatest health news.

Health Topic pages are the core ofMedlinePlus. These topic pages providehighly selective collections of links toWeb documents, not comprehensive listsof everything on the Web. They pointconsumers to the best Web resources andminimize redundant listings. As of Au-gust 2006, 738 health topics were avail-able on MedlinePlus. Many of these top-ics are also available in Spanish.MedlinePlus updates the Health Topicpages daily with press announcementsfrom government organizations and withnews stories from Reuters and Health-Day.

Table 1. MedlinePlus Quality Guidelines for Selecting OnlineResources

Quality, authority and accuracy of contentSites must provide the names of their advisory board members or be published by a government

agency. MedlinePlus staff checks Board members’ names in MEDLINE and other databases toascertain whether they have published on the subjects covered by the web site. If the medicalauthority of the site is not evident, the MedlinePlus team contacts the site’s Webmaster re-questing for information or clarification.

Purpose of siteThe site’s primary purpose must be to provide health information, not to sell a product or ser-

vice. Intrusive or content-linked advertisements disqualify pages from inclusion.Most of the content must be free and not require registration.MaintenanceThe site must be consistently available, without broken links, and provide a Webmaster address.

Pages must display dates.Quality, nonredundant contentBecause MedlinePlus is selective, not comprehensive, links on Health Topic should have mini-

mal redundancy. Each linked document provides unique information to the consumer usingthat Health Topic page. Some links bring users a clear summary of an entire disease or condi-tion, while others bring unique features, such as different reading levels, clear diagrams, illus-trations, or interactive programs.

Fig. 1. Images A–C illustrate how to find the MedlinePlus health topic for phenylketonuria. [Color figure can be viewed in the online issue, which isavailable at www.interscience.wiley.com.]

306 MRDD RESEARCH REVIEWS DOI 10.1002/mrdd ● NATIONAL LIBRARY OF MEDICINE WEB SITES ● FOMOUS AND MILLER

The experienced biomedical li-brarians who create and maintain HealthTopic pages organize them into catego-ries such as overview, diagnosis, treat-ment, and prevention. They also includethe source of online resources and iden-tify easy-to read-materials and other spe-cial features such as pictures, diagrams,and flowcharts. The Health Topic pagesfunction like a table of contents to chap-ters in an Internet book. This arrange-ment helps consumers easily scan thepages and provides them with a refugefrom the overwhelming amounts orvarying quality of Internet health infor-mation.

NLM uses established guidelines(Table 1) to identify and select high-quality information produced by other

NIH Institutes, government organiza-tions, and nongovernmental health infor-mation providers. MedlinePlus publishesthese guidelines (http://www.nlm.nih.gov/medlineplus/criteria.html) so thatorganizations can evaluate themselvesagainst the quality standards. Theseguidelines assure users that the informa-tion they find on Health Topic pages isreliable and up to date. MedlinePlus doesnot use cookies and does not request anypersonal information.

Licensed content supplements theHealth Topic pages in areas where au-thoritative Web content is not avail-able. MedlinePlus licenses drug infor-mation, herbal and dietary supplementinformation, an illustrated medicalencyclopedia, health news, a medical

dictionary, and low-literacy interactivehealth tutorials.

Interactive Health TutorialsIn partnership with the Patient Ed-

ucation Institute, NLM provides userswith interactive health tutorials (http://www.nlm.nih.gov/medlineplus/tutorial.html) for nearly 200 topics. Using Flashtechnology, audio narration, and ani-mated graphics, each tutorial explains aprocedure or condition in easy-to-readlanguage. A printed summary is availablefor each tutorial. The tutorials also in-clude quizzes to reinforce major points ofthe presentation. All tutorials are avail-able in both English and Spanish and areone of MedlinePlus’s most popular fea-tures. They are an invaluable informationsource for patients, including those withlow vision or low-literacy skills.

ClinicalTrials.govIn 2000, NIH launched the Clini-

calTrials.gov database (http://clinical-trials.gov/) to provide consumers withaccess to medical research studies that

seek to evaluate the safety and effective-ness of new drugs, medical procedures,or other means of treating, diagnosing,or preventing diseases. The database ismaintained by NLM’s Lister Hill Na-tional Center for Biomedical Communi-cations [McCray and Ide, 2000]. For awide range of diseases and conditions,ClinicalTrials.gov offers up-to-date in-formation for locating federally and pri-vately supported clinical trials in theUnited States and more than 120 coun-tries. In 2005, more than a dozen majormedical journals began requiring registryin ClinicalTrails.gov prior to publicationof clinical studies, and the number ofjournals requiring registry is expected togrow. As of August 2006, the Clinical-Trials.gov database contained about31,700 clinical studies.

For each study in the database,ClinicalTrials.gov provides a title, de-scription, and design of the study; re-quirements for participation; locationswhere the study is available; and contactinformation. In addition, ClinicalTrials.gov indicates whether the study is ac-

Fig. 2. The health topic page links to other NLM resources, such as Interactive tutorials, Clinicaltrails.gov, and PubMed. The left hand side of the topic page serves as a table of contents forphenylalanine-specific resources and related topics. [Color figure can be viewed in the online issue,which is available at www.interscience.wiley.com.]

NLM has several web-based resources thatprovide information

about newborn screeningand rare disordersdetected through

screening efforts. Theseresources include

MedlinePlus, interactivehealth tutorials, Genetics

Home Reference,ClinicalTrails.gov, and

PubMed.

307MRDD RESEARCH REVIEWS DOI 10.1002/mrdd ● NATIONAL LIBRARY OF MEDICINE WEB SITES ● FOMOUS AND MILLER

tively recruiting patients, not yet recruit-ing, no longer recruiting, or the study iscompleted. Learning aids are also avail-able and include a glossary of terms usedin clinical trials and a series of frequentlyasked questions that provide introductoryinformation about clinical trials.

Genetics Home ReferenceLaunched in 2003, Genetics Home

Reference (GHR) is an NLM web site(http://ghr.nlm.nih.gov) that providesconsumer information about geneticconditions and the related genes andchromosomes [Mitchell et al., 2004]. Us-ing a question-and-answer format, GHRprovides short summaries of genetic dis-orders and the genetic variations respon-sible for these disorders. The site’s con-tent is continually monitored to ensurethat it is accurate and up to date. As ofAugust 2006, summaries were availablefor 205 conditions, 328 genes, and all thehuman chromosomes. GHR provides in-formation for the 29 conditions included

in the core screening panel recom-mended in the draft report by the HealthResources and Services Administration[2005].

GHR’s materials are developedwith the recognition that GHR usersmay have a limited science background.The summaries are written on a high-school level in lay-friendly language.Each condition summary provides a con-cise description of the disorder and anexplanation of its incidence or preva-lence, inheritance pattern, and geneticetiology. Summaries of related genes ex-plain the gene’s normal functions and theeffect of mutations and polymorphismson these functions. Chromosome sum-maries describe the basic characteristics ofeach chromosome, and some summariesinclude a discussion of related chromo-somal disorders.

Each type of summary links to awide spectrum of online resources to ac-commodate the varied needs of GHRusers. The criteria used in selecting these

online resources (http://ghr.nlm.nih.gov/ghr/page/Disclaimers) are similar tothe MedlinePlus quality guidelines.GHR also offer learning aids such as glos-sary and an illustrated tutorial called theHelp Me Understand Genetics Hand-book.

PubMedPubMed (http://pubmed.gov) is

powerful but easy-to-use search systemfor MEDLINE. MEDLINE is theNLM’s premier bibliographic databasecovering the fields of medicine, nursing,dentistry, veterinary medicine, the healthcare system, and the preclinical sciences.MEDLINE contains bibliographic cita-tions and author abstracts from more than4,800 biomedical journals published inthe United States and 70 other countries.The database contains more than 16million citations dating back to the mid1950s. Coverage is worldwide, but mostrecords are from English-languagesources or have English abstracts. Free,

Fig. 3. The interactive health tutorial provides a multimedia presentation on several facets of phenylketonuria (reproduced with permission from thePatient Education Institute (x-plain.com)). [Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.]


full-text articles are available from manyjournals through PubMed Central®, adigital archive of life sciences journal lit-erature.

PubMed’s LinkOut® feature pro-vides access to a wide variety of relevantweb-accessible resources, including full-text publications, biological databases,consumer health information, and re-search tools. Currently, citations frommore than 4,600 journals are linked tothe full text on publishers’ web sites. Us-ers may have to register, or there may bea fee or subscription required to accessthe full text. PubMed is an indispensabletool for users who want to read the latestresearch from professional medical jour-nals.

PKU—A CASE STUDY IN USINGNLM RESOURCES

PKU, a genetic disorder includedin all newborn screening programs, willserve as an example to illustrate the edu-cational features of NLM resources. TheNLM web sites described earlier arecrosslinked to one another. In this casestudy, a search will begin on the Medline-Plus web site and will illustrate connec-tions to the other NLM resources and theauthoritative information available to pa-tients and health professionals.

Beginning with the MedlinePlushomepage (http://medlineplus.gov), theuser chooses “Health Topics,” then theletter “P,” and the topic title for PKU orphenylketonuria, as diagrammed in Fig-ure 1. Once on the topic page for phe-nylketonuria, the user can scan the con-tents of the page from the box in the leftmargin (Fig. 2). Each topic page is like atable of contents that allows the user togo quickly to a specific area of interestsuch as “Nutrition.” Additionally, theleft margin provides a tailored PubMedsearch of MEDLINE as well as links torelated health topics that may be of in-terest to the user. For example, the linkfor Newborn Screening takes the user toa Health Topic page that covers the gen-eral aspects of newborn screening andprovides resources describing disordersthat are detected through screening pro-grams.

The PKU Health Topic page alsointegrates links to other NLM productsand the relevant NIH organization. Onthe right-hand side of the topic page,there are links to an interactive tutorial,GHR, and the National Institute forChild Health and Human Develop-ment—the primary NIH organizationfor PKU research. Clicking on the link tothe interactive tutorial provides userswith a multimedia presentation (Fig. 3)

that explains the concepts of proteins andamino acids (particularly phenylalanine),PKU symptoms, the genetic cause of thisdisorder, PKU testing, treatment, andmaternal PKU.

If the user prefers to scroll throughthe Health Topic page, the first listingsare for NIH publications and overviewsof PKU from organizations such as theMarch of Dimes, followed by links toinformation on nutrition and related is-sues such as a babysitter’s guide to PKUand facts about aspartame. Scrolling fur-ther down the page, users find links toClinicalTrials.gov, genetic resources,support organizations, and laws and pol-icies related to PKU. The link to Clini-calTrials.gov (also available from the left

margin) provides the user with a list ofPKU trials (Fig. 4) that are recruiting ornot yet recruiting. Checking the box la-beled “Include trials that are no longerrecruiting patients” shows all trials forPKU, including trials no longer recruit-ing or completed. Clicking on a link toany of these trials will bring the user to aninformation page about the study. Clini-calTrials.gov information pages includelinks to MedlinePlus and GHR.

Selecting the link to GHR willbring the user to the GHR conditionsummary for PKU (Fig. 5). From thissummary, users learn that PKU increasesblood levels of phenylalanine, an aminoacid that is obtained through the diet, andthe disorder is detected in one in

Fig. 4. A search of the ClinicalTrials database reveals several studies related to phenylketonuria.The information page for these trials provides links to MedlinePlus and Genetics Home Reference.[Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.]


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10,000–15,000 newborns. The summarydescribes signs and symptoms and ex-plains the concept of autosomal recessiveinheritance. Users can also read a brief ex-planation of how mutations in the PAHgene cause PKU. The condition summaryincludes links to glossary terms and sectionsof the Handbook to help users with unfa-miliar terminology or concepts. The leftmargin of the page offers links to the relatedgene and additional resources from NIH,NLM, and other organizations. These re-sources range in complexity from lay-leveloverviews to the genetics database On-line Mendelian Inheritance of Man[Hamosh et al., 2005].

From the GHR summary, select-ing the link to PubMed brings the user toa tailored search of PubMed/MEDLINE(Fig. 6). The search will find dozens ofarticles from the primary biomedical lit-erature that report findings on treatment,management, screening, and PAH muta-tions. If an article is of particular interest,users can choose the “Related Articles”link to retrieve a precalculated set ofPubMed citations that are closely relatedto the selected article. Users can also clickon “Links,” then LinkOut for a list ofsources for a full text of the article as wellas related resources such as the Medline-Plus Health Topic page for PKU.

This case study highlights the net-work of NLM resources that providesvaluable information for parents andhealth providers.

SUMMARYExpanded newborn screening and

subsequent detection of rare genetic dis-orders challenges medical providers andparents to understand the consequences

of these disorders. In 1998, NLM beganto introduce web-based educational re-sources that are designed for the generalpublic and are also suitable for healthcareprofessionals. These resources includeMedlinePlus, GHR, ClinicalTrials.gov,and PubMed. These NLM web sites ad-dress dozens of disorders detectedthrough newborn screening and provideusers with a continuum of medical infor-mation ranging from easy-to-understandinformation about genetic etiology, in-heritance, and incidence to available clin-ical trials and relevant biomedical litera-ture. NLM web sites also direct users toadditional online resources that meetquality standards. These governmentweb sites are freely accessible and offerinformation that is reliable, accurate, andup to date. f

ACKNOWLEDGMENTSThe authors thank Jane Fun for her

valuable assistance in preparing the im-ages for this study.

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