Marking 15 years of the Genetic and Rare Diseases Information Center

Background: The Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences, was established in 2002 to assist the public in finding reliable, timely, and easy-to-understand information about genetic and/or rare diseases in English or Spanish.

Objective: A review of longitudinal data on GARD inquiries from 2002 to 2016 and assessment of the results of two user satisfaction surveys were conducted to understand the demographics and needs of GARD customers over time.

Methods: Since 2002, GARD has collected anonymized data while responding to questions received via e-mail, website, telephone, fax, letter, or TTY. Between 2002 and 2016 GARD received a total of 60,106 inquiries. User satisfaction surveys were conducted in 2006 and 2014, in which users self-selected to participate.

Results: The annual number of inquiries has risen steadily since 2002. Inquiries are overwhelmingly from educated female patients, family, and friends seeking disease-specific information, treatment options, referrals, and research studies. Most users report satisfaction with the experience.

Conclusions: Rare disease patients and their families face challenges in finding information about their symptoms or diagnosis, prognosis, treatment options, significance for family members, and research opportunities. Lack of available clinical expertise can leave patients, their family, and friends with little choice but to become knowledgeable on their own. GARD fills a critical need by providing the public with vetted, evidence-based information that empowers people to engage in their own health care and seek research studies of relevance.