Global health for rare diseases through primary care (Posted Jun 21, 2024 8AM)

https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=rare&query=home From the article: " Genetic testing shows promise in diagnosing people with rare diseases, as over 72% of rare diseases have a genetic basis. Next-generation sequencing and other technologies have facilitated the time-effective and cost-effective diagnosis of most genetic diseases, but substantial challenges hinder widespread adoption. The lack of genetic workforce capacity is a global concern, even in high-income countries, with many regions and countries lacking sufficient genetic expertise. The low reimbursement by governments and private insurers for genetic services also poses an additional barrier. The combination of these factors prevent primary care providers from referring people with suspected rare disease to specialists, which delays diagnosis and treatment. "