In the United States, rare disease is defined as a condition that affects fewer than 200,000 individuals. Collectively, rare diseases affect an estimated 30 million Americans. A significant portion of rare diseases have an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases was created under the auspices of the Center for Individualized Medicine aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education.
Implementation of the Program for Rare and Undiagnosed Diseases began in 2018 and Genetic Testing and Counseling unit launched in 2020 to support program expansion. Currently, 29 clinical indications for rare diseases are included in 11 specialty departments.
Implementation of Program for Rare and Undiagnosed Diseases began have enabled subspecialty practices advance expertise in rare disease where genetic counselors have not historically been embedded in practice. Democratizing access to genetic testing and counseling can broaden the reach of patients with rare disease and increase the diagnostic yield of such indications leading to better medical management as well as expanding research opportunities. Read the full article here.