{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T19:54:43Z","timestamp":1726430083840},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,2,7]],"date-time":"2013-02-07T00:00:00Z","timestamp":1360195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (NF1) is a clinically diagnosed autosomal dominant disorder requiring routine clinical management, particularly during the pediatric years. An overlapping disorder, Legius syndrome, at times is clinically indistinguishable from NF1 and results in a small percentage of individuals being mischaracterized. Distinguishing these two entities is increasingly important for prognosis, reproductive planning, and clinical management. The goal of our study was to evaluate the cost impact of genetic testing for patients with solely pigmentary findings. The costs of genetic testing in patients aged 1.5\u201318 years were modeled using a simulated population, assuming the clinical management approach of a single NF1 clinic. Two genetic testing algorithms (<jats:italic>SPRED1<\/jats:italic> testing alone, and <jats:italic>NF1<\/jats:italic> mutation analysis with reflex to <jats:italic>SPRED1<\/jats:italic>) were compared against a baseline of no genetic testing. The cost for <jats:italic>SPRED1<\/jats:italic> mutation analysis for each individual meeting NF1 diagnostic criteria without neoplastic or boney manifestation, when compared to the no\u2010testing approach with routine follow\u2010up mutations between the ages of 10 and 14 years, was minimal (range of $4\u2013$16). Based on the clinical practice of one NF1 clinic, we found that the cost difference to perform <jats:italic>SPRED1<\/jats:italic> mutation analysis on individuals who meet diagnostic criteria for NF1 without neoplastic or boney manifestation were minimal. Therefore it is important that \u201cwhen to test decisions\u201d remain a physician\/patient discussion, as individual benefits may be greatest at a different age than when it is most cost efficient. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35718","type":"journal-article","created":{"date-parts":[[2013,2,8]],"date-time":"2013-02-08T02:31:36Z","timestamp":1360290696000},"page":"467-472","source":"Crossref","is-referenced-by-count":7,"title":["A cost savings approach to <i>SPRED1<\/i> mutational analysis in individuals at risk for neurofibromatosis type 1"],"prefix":"10.1002","volume":"161","author":[{"given":"Talia M.","family":"Muram","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Watts\u2010Justice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Viskochil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Mao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2113"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21404"},{"key":"e_1_2_5_4_1","unstructured":"GeneTests at NCBI updated May 12 2011.http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK47312\/."},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3364"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21107"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2009.1663"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809359540"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065243"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045906"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065474"},{"key":"e_1_2_5_12_1","unstructured":"University of Alabama Medical Genomics Laboratory accessed February 24 2011. Available at:http:\/\/medicine.uab.edu\/genetics\/82633\/medgenomics\/#testservice."},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/510781"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470893159.ch37"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35718","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35718","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:10:44Z","timestamp":1697634644000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,7]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1002\/ajmg.a.35718"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35718","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,7]]}}}