The Genetic and Rare Diseases (GARD) Information Center The ORDR - PowerPoint PPT Presentation

The Genetic and Rare Diseases (GARD) Information Center The ORDR Collaborative Patient Registry for Rare Diseases will be linked to GARD to assist the patients, their families and the medical community seeking information about rare diseases. National Institutes of Health (NIH)

GARD Information Center Created by the National Institutes of Health’s (NIH’s) Office of Rare Diseases Research (ORDR) and National Human Genome Research Institute (NHGRI)

GARD Services Provides free access to accurate, reliable information about genetic and  rare diseases. Provides both:  – individualized assistance in finding information to patients and families, health professionals, and other interested parties; – generalized information on the Web that is based on public inquiries. Provides information about specific conditions from numerous resources  including vetted Web sites, organizations, academic institutions, textbooks, medical literature and personal communication with experts, as needed.

GARD Services (cont.) Telephone and TTY calls are answered Monday  through Friday from noon to 6 p.m. Eastern Time. Written responses are sent via e-mail, individualized  Web page, fax, or letter. Responses—without identifying information—are also  posted on the disease-specific GARD Web pages on the ORDR Web site for general use. ** GARD staff do not provide genetic counseling or offer advice about diagnostic testing, referrals, or medical treatment.**

GARD History Inquiry responses began in January 2002.  Services expanded in February 2004—English and  Spanish. GARD Web pages launched on the ORDR Web site in  January 2008. Staffed by 3.5 FTE Information Specialists who hold master’s degrees in genetic counseling or other medical training. Three bilingual Information Specialists are available.

Who Uses GARD? (2009) Health Care Providers Unknown Other Users (e.g. 13% 5% teachers, media, librarian, Students legislator/policy maker, 6% attorney, child care provider) 4% Patients/At-Risk Individuals 33% Family members/Friends 39%

Statistics Overview GARD Inquiries More than 25,000 inquiries received in 8 years.  Inquiries concern 6,758 separate diseases.  Currently, GARD receives approximately 10-12  inquiries/day Spanish inquiries represent 5% of total received since  February 2004. Responses sent in 2 to 6 business days (unless  request is urgent).

Inquiries by Month (Yearly Comparison: 2005 - 2010) Inquiries Received 500 400 2005 300 2006 2007 200 2008 100 2009 201 0 GARD Web site 0 launch January 1 2 3 4 5 6 7 8 9 10 11 12 2008 Months (Jan 2005 - Jan 2010)

GARD Web Pages The launch of the GARD Web pages in 2008 moved  the Information Center to a Web-based self-service model supported by Information Specialist staff. The extensive information collected as a result of  preparing customized responses to inquiries is now posted to the Internet, assisting both the original inquirer and the general public. There were 72,323 visits to the GARD Web pages in  January 2010; the average of visit length was 37 minutes.

GARD Web Pages on ORDR Web Site http://rarediseases.info.nih.gov/GARD Currently there are 561 Q&As posted for 498 diseases

ORDR/NHGRI/GARD Collaborations Centers for Disease Control and Prevention (CDC) – Newborn  Screening Diseases Information Resources The Food and Drug Administration’s (FDA) Office of Orphan  Products Development (OOPD) – Approved Orphan Products National Library of Medicine’s:  Genetic Home Reference (GHR) – Reference and Web Services – Health Resources and Services Administration’s (HRSA)  Congenital Conditions Program and Newborn Screening Clearinghouse

GARD Web Site Visits (2008-2010) 6 GARD 3 5 1 1 80000 8 , 6 6 4 3 , 9 7 2 2 , 3 7 0 Web site 7 , 2 9 7 7 8 4 3 4 8 , 6 , 7 5 70000 6 0 6 Visits 4 , 3 7 6 6 9 , 4 9 6 5 , 7 5 60000 4 0 2 0 , 7 2008 1 4 50000 7 , 3 4 2009 7 4 7 5 4 3 6 2010 5 40000 8 4 , 4 6 8 , , 5 4 , 2 1 1 4 3 3 3 0 , *A visit is a 0 3 4 1 30000 3 3 series of 8 , 3 5 0 6 3 , 3 2 actions that 9 , 3 1 1 3 9 begins when 7 , 7 20000 2 2 1 a visitor views 7 , 4 1 2 4 their first , 0 2 7 10000 8 page from the 6 4 3 3 , 4 , server, and 3 1 1 ends when the 0 visitor Sept Feb Mar Apr Jun Aug Oct Nov Dec Jan May Jul

ORDR’s Rare Diseases and Related Terms Terms for which information requests have been  made to GARD Diseases that have been suggested as being rare*.  List of terms are updated daily by GARD staff  6,900 diseases are currently on the list.  *A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

Sample Feedback (unedited) “I thank you for your responses which are very prompt. I feel that you have been a great  help to parents like me who have limited access or knowledge of what to expect… Because of your site, I have became knowledgeable of what to expect and of what to ask. Your information site is very informative and has a lot of other research information that is also helpful. There is not much more you can do to improve, even with my computer that is so outdated. I was able to retrieve the information that was provided.”  “I am so grateful... more than you know, and let me explain why. I sent 8 emails out to experts and 7 replies were generic, sending me to my pediatric endocrinologist, or back to their website, where I couldn’t find the answer to my question to begin with. Thank you for taking the time you did to answer my questions. This was incredibly helpful and satisfied the answers to all my questions.”  “Hi, Thank you, thank you, and thank you I cant tell you how important it is to feel like one maybe has some say in their future health. I have yet to contact the links youve provided but they all sound helpful and promising. I will pass on this information to my family so brace yourself Kind Regards.”

Contact Information Genetic and Rare Diseases Information Center Toll-free: 888-205-2311 International: 301-251-4925 TTY: 888-205-3223 Fax: 301-251-4911 E-mail: GARDinfo@nih.gov Web site: http://rarediseases.info.nih.gov/GARD/ Mail: P.O. Box 8126 Gaithersburg, MD 20898-8126