Medical Genetics for the Undiagnosed and Rare Patient: "Chasing Zebras".

Mo Med

NORD Center of Excellence for Rare Disorders, and in the Division of Genetics and Genomics, Washington University School of Medicine, St. Louis, Missouri.

Published: November 2024

The world of genetic testing continues to evolve as new technologies provide insight into previously unchartered territories. Access to genetic testing, especially for complex medical patients, could potentially improve the lives of thousands of individuals with undiagnosed conditions. Barriers to testing include financial and physical limitations, along with the emotional and social fortitude that is at times needed for vulnerable populations to agree to testing and participation in research. As healthcare providers, it is imperative that we adopt a wholistic approach to care so that we can arm our patients with the necessary resources to navigate their medical journey.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578571PMC

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