The National Human Genome Research Institute (NHGRI) and the National Institutes of Health's Office of Rare Diseases (ORD) have launched a new information center that, for the first time, delivers free and immediate access to information specialists who can provide accurate, reliable information about genetic and rare diseases to patients and their families.
There are more than 6,000 genetic and rare diseases afflicting more than 25 million Americans, but many of these illnesses affect relatively few individuals. As a result, information about these rare disorders may be limited or difficult to find. The new service, called the Genetic and Rare Diseases Information Center, will help relieve this problem by providing reliable information about individual disorders. Opened in February 2002, the center provides experienced information specialists to personally answer questions from patients and family members on the phone, as well as by e-mail, fax and regular mail.
"I am delighted we can provide a resource that should be of great benefit to individuals with genetic and rare diseases and their families," said Francis Collins, M.D., Ph.D., director of NHGRI. "Valid and accessible information about these conditions is hard to find, and having an information center, staffed by professionals, will fill a critically important need. The National Human Genome Research Institute is delighted to be partnering with the Office of Rare Diseases to establish this center."
ORD Director Stephen C. Groft, Pharm.D., who currently is on detail as executive director of the White House Commission on Complementary and Alternative Medicine Policy, knew there was a need for a genetics and rare diseases information center when he was executive director of the Commission on Orphan Diseases. "It was a dream of his way back in the 80s," said Henrietta Hyatt-Knorr, ORD's acting director. The commission heard over and over again from people with rare diseases: 'We need information.' "
"Now people can talk to someone - personally - and get information right away," Hyatt-Knorr continued, "and there will be a quick turn around. If you just received a diagnosis for yourself, your spouse, or your child, now you won't have to wait to find useful information."
The center operates under a contract with Aspen Systems, an information management company that creates and manages information systems for many health and government agencies. Aspen Systems oversees the technology supporting the NHGRI/ORD information center. The Genetic Alliance, an international coalition of more than 300 lay advocacy organizations and health professionals, staffs the center with information specialists supported by sophisticated technology and the latest information.
"This new Genetic and Rare Disease Information Center will be staffed by specialists sensitive to the needs of individuals and families with genetic and rare diseases, " said Mary Davidson, executive director of The Genetic Alliance. "The experience of reaching a live, compassionate person with accurate information can be life-saving to many people."
The center provides callers with authoritative information about specific illnesses from existing public domain sources, including reliable websites, brochures, articles, and even chapters from books. Experts at the information center ensure that the information sent out is current and accurate. The center, however, does not provide genetic counseling and does not offer diagnostic testing, referrals, medical treatment or advice.
The information center expects most inquiries to come in by phone or email. Calls are answered Monday through Friday, from 12 p.m. to 6 p.m. Eastern time by both phone and TTY (text telephone). Inquiries can also be submitted via email, by fax, or by U.S. mail.
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Last Reviewed: September 2006