Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

The Undiagnosed Diseases Network, an NIH-funded network of seven U.S. sites, accepted 601 patients for evaluation over a 20-month period. Of the 382 patients who had a complete evaluation, 132 (35%) received a diagnosis; 15 of the diagnoses (11%) were made by clinical review alone and 98 (74%) by ex...

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Veröffentlicht in:	The New England Journal of Medicine 2018-11, Vol.379 (22), p.2131-2139
Hauptverfasser:	Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina G.S, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animals Child Diagnosis Diagnosis, Differential Drosophila Exome Female Genetic counseling Genetic disorders Genetic screening Genetic Testing - economics Genomes Health care Health Care Costs - statistics & numerical data Humans Male Medical diagnosis Metabolomics Models, Animal National Institutes of Health (U.S.) Patients Rare Diseases - diagnosis Rare Diseases - genetics Sequence Analysis, DNA Syndrome Teams United States
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Beschreibung
Zusammenfassung:	The Undiagnosed Diseases Network, an NIH-funded network of seven U.S. sites, accepted 601 patients for evaluation over a 20-month period. Of the 382 patients who had a complete evaluation, 132 (35%) received a diagnosis; 15 of the diagnoses (11%) were made by clinical review alone and 98 (74%) by exome or genome sequencing.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMoa1714458