Access to genetic expertise is differentially available to individuals with rare genetic conditions and their families who: 1) are aware that such services even exist; 2) have the financial means to travel or by chance, live in close geographic proximity to the relevant specialist; 3) have a primary care provider who is able to stay abreast of new developments in testing and management for specific disorders; or 4) have the ability to find and interpret sophisticated information on their own. In addition, relatively few health care professionals in the United States are available with expertise to follow-up, diagnose and treat patients with some of these uncommon concerns.
The Genetic Expertise Workgroup will focus on improving access to genetic expertise for underserved populations and maximizing time of genetic specialists and genetic counselors so expertise is ultimately available to more families
