Abstract
Genetic testing is being increasingly integrated into mainstream healthcare and is one of the latest advances dermatologists can offer to certain patients to improve their care. Developments in genetic skin disease continue to progress at pace, and dermatologists are well placed to phenotype and test for rare skin diseases in the clinic. Patients who have a molecular genetic diagnosis will inform rare disease research, natural history studies and clinical trials. By using new technologies, increasing awareness and improving access to care, we can help ensure that patients with rare diseases receive the support and treatment they deserve.
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