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Podcast: It Happened To Me: A Rare Disease and Medical Challenges Podcast
Episode: #39 Genetic Testing for Rare Diseases with Amy Patterson
Description: Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasias.Â
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Amy Patterson (she/her) is a licensed pediatric and adult genetic counselor in the Johns Hopkins Department of Genetic Medicine. She primarily works with patients in the Greenberg Center for Skeletal Dysplasias as well as the General Genetics clinic. Especially in the skeletal dysplasia space, Amy works to promote a holistic patient experience, including psychosocial counseling, connection with patient advocacy groups, informed consent, genetic testing and interpretation of results, coordination of care, and discussion of re...