Educational and Research-based Websites for Cystic Fibrosis

Introduction

Cystic fibrosis (CF) is the most common lethal autosomal recessive illness in the white population, although it is also seen in African Americans, Hispanics and, less commonly, in Asian Americans.  It has an estimated carrier rate of approximately 1:30 in the US.  There are approximately 30,000 patients with this illness in the US and 70,000 worldwide (1).  The underlying genetic cause is a defect in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), a 250 kb protein regulated by cAMP that affects the passage of chloride and sodium ions along with water through the apical cell membrane.  Defects in the CFTR are associated with diminished extracelluar fluid and resultant thickened secretions (2).  While the CFTR protein is located in many different organ systems, in CF, four organ systems are particularly affected: the lungs, gastrointestinal tract, reproductive organs and the sweat glands (3).

CF is associated with recurrent sinopulmonary infections, fat malabsorption with secondary poor growth, impaired fertility and elevated chloride levels in the sweat (2, 3).  Diagnosis is made through clinical suspicion and findings consistent with CF along with an abnormal sweat test and, when available, abnormal gene markers.  There are currently over 1500 known CFTR mutations (2).  Most commercial labs only test for the most common 100 or so mutations, so a negative gene marker does not completely eliminate CF as a diagnostic possibility.

There is no cure for CF. However, more effective therapies are currently available, and what was once a universally lethal illness in young childhood, is now evolving into a chronic illness in young adults (2, 4).  The median lifespan is slowly continuing to improve and is now 37.4 years (1).  Previously the province of pediatric pulmonologists, CF is now becoming a disease more often treated by our adult colleagues.

Last Update: November 2009

Search

The search for the websites reviewed was done via the Google™ search engine.  The term “cystic fibrosis” was entered and 5.02 million sites were obtained (as compared to 2.35 million sites for the 2007 edition of this Best of the Web review and 6.55 million sites for the 2008 edition).  The first 150 were reviewed in detail.  As before, the vast majority of these sites were directed towards the lay public and would be of minimal interest to pulmonologists.  Examples of these sites included CF support groups, general educations sites (i.e., Mayo Clinics, March of Dimes, WebMD), university-based CF Center homepages, drug company websites, clearing houses listing several CF websites, journal articles and mainstream media outlets (i.e., UPI, the New York Times, Newsweek).  Many of these sites have not been updated in several years.  There were only a handful of websites that would be of interest to physicians, either for their own education, or as a trusted site to which they could refer their patients and their families for educational material.  The most detailed and well-annotated of these sites are included in this review.

Best Websites

Cystic Fibrosis Foundation

This is the website for the major research, educational, patient advocacy and fundraising organization for CF care in the United States.

1. Authority: The Cystic Fibrosis Foundation is the preeminent organization on CF in the United States, if not the world. Actively engaged in all aspects of clinical and basic science research, it serves as a coordinator for multicenter clinical research sites and provides a major source of research funding. It represents the most up-to-date source on information regarding CF care and sponsors numerous educational and patient care initiatives while organizing and running the major annual international CF research conference. The Cystic Fibrosis Foundation provides a major source of funding for the training of pediatric pulmonary fellows and is a major fundraising organization that represents a strong advocacy group for patients with CF and their families. The site readily lists the contributors on many of the patient educational materials (i.e., video downloads), although much of the material is unannotated. The President of the foundation is identified but not the Board of Directors. The site offers numerous ways in which the reader can contact the foundation. Rating: 5

2. Currency: The material presented is up to date and many of the webpages have a posting date located at the bottom of each page. The site, however, does not state how frequently the webpages are updated. Rating: 5

3. Accuracy: The material presented is accurate and up to date. Many of the contributors, when identified, are leaders in the field of CF. Rating: 5

4. Navigation & Readability: This website is well organized and easy to navigate. There are many internal links which connect you to other portions of the website. The toolbar has a drop-down style, with a secondary outline running top to bottom on the side of each webpage, further increasing ease of use. However, few external links are present. Rating: 5

5. Utility: There is a wide range of material presented on this website that is useful to both the patient and physician. Downloads are easily available, both as PDF files and videos, and are free to the reader (although more PDF files for patient handouts would be helpful). Registration for use of the site is not required except for the portion of the site that looks at each CF center’s outcome statistics, and that asks for minimal user information. Especially useful is the internal link to the Cystic Fibrosis Services Pharmacy (https://www.cfservicespharmacy.com/), a tool that easily allows patients to obtain their needed medications (registration is also required for this site). Rating: 5

Summary: This is an outstanding site with the most comprehensive and up-to-date information available for most issues regarding CF.

ClinicalTrials.gov

This website represents a clearing house of clinical research studies sponsored by the federal government and private industry.

1. Authority: ClinicalTrials.gov is run by the National Institutes of Health and the National Library of Medicine in collaboration with the Food and Drug Administration. It has been in existence since 2000. The studies listed are sponsored by the National Institutes of Health, other federal agencies, private industry, universities and nonprofit organizations. Studies may be submitted to the website by the principle investigator, a government agency or the study’s sponsor. Currently, several thousand studies are listed, although not all are actively enrolling. There is no listed webmaster or board of directors. The user may contact the site via email (a direct link is provided). Rating: 4

2. Currency: The material is current and there is a verification date posted at the top of each listed study. The website states that it is updated on a regular basis. Studies that have completed enrollment may still be listed. There are no set criteria as to when a study is removed from the listing. Several of the instructional pages reviewed, however, had been updated within the past year. Rating: 4

3. Accuracy: The material presented is accurate though by no means complete. Several well-known studies are not listed and some of the studies that are listed do not have every participating center cited. Rating: 3

4. Navigation & Readability: The website is simple, well organized and extremely easy to navigate. Each study is listed by the disease, condition under investigation, treatment offered, title of the study with a description of the study and its design, eligibility criteria and locations of study sites with contact information. CF studies can be found listed on the website provided or by using the site’s homepage, http://clinicaltrials.gov/, and entering the type of study desired. This method can fine tune the search to specific geographic regions. Rating: 5

5. Utility: This website provides an excellent way for physicians and/or patients to identify studies in which they might wish to participate. Sufficient information is provided to decide on eligibility for enrollment, should there be interest in participating. There are no downloads or PDF files available. Registration for use of the site is not required. Rating: 5

Summary: This is an excellent site for finding clinical research studies in for participation. While this website did not appear in my 2009 search, it warrants inclusion in this Best of the Web review as it remains an important resource for patients with CF, their families and health care providers.

MedlinePlus

This is the website for the National Library of Medicine, a major source of patient and physician-directed medical information.

1. Authority: MedlinePlus draws its content for the National Library of Medicine, the National Institutes of Health and other government agencies. This site catalogues numerous medical illnesses and is essentially a clearing house for other websites, with the links provided. These links sites are mostly to the Cystic Fibrosis Foundation, although other well-respected organizations are included. The Advisory Panel is listed. The reader may contact the site via email (a direct link is provided). Rating: 4

2. Currency: The material presented is up to date, with many of the webpages having a posting date located at the bottom of each page. The site states that webpages are updated on a daily basis, though most of the links reviewed were a few weeks old. Rating: 5

3. Accuracy: The material presented is accurate and up to date. In general, contributors are not listed. Rating: 4

4. Navigation & Readability: This website is well organized and easy to navigate. The topic(s) of interest are easily outlined and found. This site is a collection of external links to other, more authoritative, sites. The CF site may be found through the link provided or through the MedlinePlus homepage (http://www.nlm.nih.gov/medlineplus/ ). Rating: 5

5. Utility: There is a wide range of subjects presented within this website that are useful to both the patient and physician. However, many important topics that should to be addressed and/or linked are not present. Links to PDF files are present and helpful. The MedlinePlus encyclopedia http://www.nlm.nih.gov/medlineplus/ency/article/000107.htm provides some useful illustrations. Registration for use of the site is not required. Rating: 4

Summary: This is a good site with a fairly comprehensive list of links to excellent sites.

Genetics Home Reference

This is the National Library of Medicine’s website for patient-related information on genetic illnesses and the genes and chromosomes affected by these conditions.

1. Authority: This site draws its content from the National Library of Medicine and the Department of Health and Human Services. This site catalogues numerous genetic illnesses in addition to CF. The Advisory Panel is listed. The reader may contact the site via email (a direct link is provided). Rating: 4

2. Currency: The material presented is mostly up to date, with a posting date located at the bottom of each page on most of the websites. The site states that webpages are reviewed regularly and updated every one to two years, however, many of the sites to which there are external links are updated on a more frequent schedule. Rating: 4

3. Accuracy: The material presented is accurate and up to date. In general, contributors are not listed, but the material presented is well referenced. Rating: 4

4. Navigation & Readability: This website is well organized and easy to navigate. The topic(s) of interest are easily found and well outlined. There is a detailed genetically-based description of CF on the webpage along with many links to authoritative external sites. There are also links to subheadings that provide more detail on the topic and more external links to useful sites. The CF site may be found through the link provided or through the Genetics Home Reference homepage at (http://ghr.nlm.nih.gov/). Rating: 5

5. Utility: This site provides a detailed discussion of the genetics of CF, both from a clinical and basic-science perspective. The written description of the genetic basis of CF will be helpful to the lay public, while the more detailed links to scientific sites will prove useful to the clinical and researcher. While no direct downloads or PDF files are present, the numerous links are quite useful, as are the two case histories presented. Registration for use of the site is not required. Rating: 5

Summary: This is an excellent site with a comprehensive list of links to other useful sites.

Online Mendelian Inheritance in Man

This website is a database of genetic diseases prepared for the web by the National Center for Biotechnology Information.

1. Authority: This site draws its content from the National Library of Medicine, the National Institutes of Health, and the National Center for Biotechnology Information. It catalogues numerous genetic illnesses in addition to CF. The website was created by Dr. Victor A. McKusick, a preeminent medical geneticist at Johns Hopkins University and is now under the direction of Dr. Ada Hamosh. The website is authored and edited at the McKusick-Nathans Institute of Genetic Medicine of the Johns Hopkins University School of Medicine. The various contributors and editors of this webpage are listed at the end of the CF section. The reader may contact the site via email (a direct link is provided). Rating: 4

2. Currency: The material presented is up to date, with numerous edits being made since its initial posting in 1986. Rating: 5

3. Accuracy: The material presented is accurate, up to date and well referenced. Rating: 5

4. Navigation & Readability: This website is well organized though somewhat difficult to read. Rating: 3

5. Utility: This site provides an excellent overview to the history of the genetics of CF from mostly a basic science perspective. This limits it usefulness to the clinician but provides a wealth of information to the research geneticist. There are 270 articles abstracted and referenced with links to their PubMed annotation. However, there are no downloads or PDF files available. Registration for use of the site is not required. Rating: 3

Summary: This is an excellent site for the research geneticist. However, it will be of limited use to the clinician and of no use to the lay public.

Cellscience

This is the website for the online journal Cellscience.

1. Authority: Cellscience is an online, peer-reviewed research journal for cellular and molecular science-related research and is directed towards the biomedical scientific community, both on a clinical and basic-science level. Its website contains an international medical directory of websites for several high profile cellular-based diseases, including CF. The journal is peer reviewed and its editorial board members are listed. The website has a web editor who also sits on the journal’s editorial board. The reader may contact the site via email (a direct link is provided). Rating: 4

2. Currency: The material is current, with the CF webpages most recently updated on April 10, 2008 (there have been no further updates since the last Best of the Web review). There is no schedule listed for the frequency of updates. Rating: 4

3. Accuracy: Several of the links are inactive, but the majority connects with active, established websites. Rating: 4

4. Navigation & Readability: The website is well organized and easy to navigate. The CF site may be found through the link provided or through the Cellscience homepage at http://cellscience.com. The CF main webpage is divided into seven key topics (basics, charities, experts, funding, medical, news and research) with an explanation of the content for each section. One then clicks on a given topic and is directed into a well-organized collection of international CF-related links. Rating: 5

5. Utility: This website provides a clearing house for many CF-related websites. The websites listed are not solicited by the Cellscience editorial board, but rather, are submitted by the particular webpage. While anyone can submit a website, the sites are first reviewed by the webmaster and then rated on a 3 star system according to their utility prior to their posting. Because of its linkage with a basic science journal, however, this website is of somewhat limited use: readers of the journal would not use many of the websites posted, and the clinician or general public who would benefit from these links would not be intuitively drawn to this particular website. There are no PDF files or downloads available. Registration for use of the site is not required. Rating: 3

Summary: This is a fair website with a well-organized, comprehensive collection of links. Other websites, however, provide similar links in a more readily accessed format.

The National Heart, Lung, and Blood Institute Diseases and Conditions Index

This Diseases and Conditions Index (DCI) website was created by the National Heart, Lung and Blood Institute (NHLBI) as a source of medical information for patients and the lay public.

1. Authority: The NHLBI is a division of the National Institutes of Health charged with clinical and basic science research in the areas of heart, lung and blood-related diseases. It is active in funding medical and scientific training programs and disseminating medical information to the healthcare field and general public. No specific contributor or site editor is listed. The reader may contact the site via various routes including email (a direct link is provided). Rating: 4

2. Currency: The material was most recently updated in March 2009. There is no schedule for the frequency of updates. Rating: 4

3. Accuracy: The material presented is accurate. No author listing or bibliography is provided. Rating: 3

4. Navigation & Readability: The website is well organized and easy to navigate, with each topic limited to a relatively short page. There is a navigation bar to the side of each page with each section heading listed. The reader can advance page by page or use the navigation bar to advance to the desired section. There is a specific section for external links. The links provided are to reputable sites, but are limited in their breadth. The CF site may be found through the link provided or through the NHLBI-DCI homepage at http://www.nhlbi.nih.gov/health/dci/index.html. Rating: 4

5. Utility: This website is of limited use. It provides a reasonable introduction to CF, but little more. No downloads or PDF files are available and the number of external links are limited. Registration for use of the site is not required. Rating: 2

Summary: This is a website directed towards patients and the lay public. While most aspects of CF are presented, they are of limited depth and detail and most readers will probably want more information. It is a good starting point to learn about CF, but otherwise, not particularly helpful.

Other Important Sites

• eMedicine
  http://www.emedicine.com/ped/topic535.htm

  eMedicine is a private, online, peer reviewed, clinical knowledge base for health professionals providing in-depth reviews of medical topics. The website is well organized and easy to navigate, with each section marked by a page break and a navigation bar at the top of the page and after each section, which allows readers to advance to another section, eliminating the need for extensive scrolling. This website provides an excellent overview on CF. Especially useful is a listing of many of the more commonly prescribed medications used to treat CF along with dosing tables. While this website will be of somewhat limited use to the pediatric pulmonologist who cares for patients with CF, it will prove quite helpful for pulmonologists, general practitioners and trainees who are not as familiar with this illness. The material is current since the site was updated on October 17, 2008. Registration for use of the site is not required.

• Your Genes Your Health
  http://www.ygyh.org/cf/whatisit.htm

  This is a clinical education website sponsored by the Dolan Learning Center of the Cold Spring Harbor Laboratory. Basic introductory information about CF is presented here in a multimedia format. Graphics are excellent and there are many brief video teaching sessions presented by a leader in the field (Clement L. Ren, MD, Director of the Cystic Fibrosis Center at the University of Rochester). While other sites are more comprehensive (such as The National Heart, Lung and Blood Institute Diseases and Conditions Index described above), the manner in which the material is presented will be useful for the lay public with limited reading skills. Registration for use of the site is not required.

• Cystic Fibrosis Research Inc.
  http://www.cfri.org/home.shtml

  This website is sponsored by a nonprofit organization whose mission is to fund CF research, provide educational and personal resources, and promote CF awareness. They provide funding as well as fundraising opportunities for CF-related projects. A comprehensive listing of the research they have sponsored is listed for review as well as newsletters dating back 15 years, which describe active CF research and fundraising activities in progress. The website is current, and was most recently updated in the Summer of 2009. The Board of Directors is listed for review along with contact information. Registration for use of the site is not required.

• CysticFibrosis.com
  http://www.cysticfibrosis.com

  CysticFiborsis.com is a patient support website. It provides multiple support group connections, including web blogs, newsletters, videos (both professional and amateur), photograph exchanges and links to other support sites. While there are many patient-oriented support sites on the internet, this is one of the more professional and comprehensive sites. While this site will not be useful for physicians, it may be helpful for families. There is an extensive listing of active clinical research studies that is well organized and very user friendly. Patients can easily find studies for participation in their region (these studies are sourced from the ClinicalTrials.gov website). Registration is required for several portions of the website.

• European Cystic Fibrosis Society
  http://www.ecfs.eu

  This website is the European equivalent to the scientific portion of the Cystic Fibrosis Foundation’s website. This site does not have a fundraising component and no (direct) patient education material (though links are provided to patient care-related sites). It does, however, have links to scientific sites and journals including The Journal of Cystic Fibrosis. Registration for use of the site is not required.

• Cystic Fibrosis Worldwide
  http://www.cfww.org/

  This website is the European equivalent to the clinical and educational portion of the Cystic Fibrosis Foundation’s website. It has many PDF files for patient care-related material and fundraising information. In addition, there is a chat room available for people, if they are interested. Registration for use of the site is not required, though one must register to post comments in the chat room.

• Port CF
  http://www.portcf.org/

  This is the clinical data entry site and repository for Cystic Fibrosis Centers’ Annual Patient Registry. Access to this site allows the viewer to enter data for a given patient as well as collect data on CF patients from around the US as part of clinical research. Registration is required for access to this site. This site did not appear in my 2009 search but warrants inclusion in this Best of the Web review because it remains an important resource for patients with CF and their families as well as their healthcare providers.

• CF Referral Center for Susceptibility and Sensitivity Studies at Columbia University
  http://synergy.columbia.edu/

  Columbia University’s “Synergy Lab” provides antibiotic synergy studies on multiresistant Pseudomonas species to help identify optimal in vitro antibiotic combinations to help treat these infected patients. Instructions and downloads for sending samples to the laboratory are available. Registration is required for access to this site. This site did not appear in my 2009 search but warrants inclusion in this Best of the Web review as it remains an important resource for those caring for patients with CF who are colonized with multiresistant Pseudomonnas species (an increasingly common problem in CF).

• Cystic Fibrosis Mutation Database
  http://www.genet.sickkids.on.ca/cftr/app

  This website is a repository of all known mutations of the CFTR protein. I had previously listed this website under the Best Web Sites section, however, as this site has not been updated since March 2, 2007, it is no longer current enough to warrant a higher listing or appear in the top 150 sites that were reviewed for this Best of the Web update. None the less, it remains an important website for CF researchers. This website provides a central repository of sequencing information on the CFTR protein. Forms are available online to submit newly identified sequences. There are links to several other CF-related websites, most of which are scientific in focus. This is an excellent site for obtaining information about CFTR DNA and RNA sequences and will prove especially useful for the physician-scientist, though it is no longer as up to date as it needs to be.

Disclaimer

The author has no personal or financial interest in any of the websites discussed above.

References

1. Cystic Fibrosis Foundation, Patient Registry 2007 Annual Report, Bethesda, Maryland.
2. O’Sullivan BP, Freedman SD. Cystic Fibrosis. Lancet 2009;373:1891-1904.
3. Davis PB. Cystic Fibrosis Since 1938. Am J Respir Crit Care Med 2006;173:475-482.
4. Accurso FJ. Update in Cystic Fibrosis 2006. Am J Respir Crit Care Med 2007;175:754-757.