{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T18:02:02Z","timestamp":1789581722415,"version":"build-2803163510"},"reference-count":41,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T00:00:00Z","timestamp":1647907200000},"content-version":"am","delay-in-days":355,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012462","name":"Office of Academic Affiliations, Department of Veterans Affairs","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012462","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001545","name":"Children's Tumor Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001545","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Patient Education and Counseling"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1016\/j.pec.2020.09.029","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T11:53:52Z","timestamp":1601294032000},"page":"808-814","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"title":["Effective provider-patient communication of a rare disease diagnosis: A qualitative study of people diagnosed with schwannomatosis"],"prefix":"10.1016","volume":"104","author":[{"given":"Vanessa L.","family":"Merker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott R.","family":"Plotkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin P.","family":"Charns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Meterko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin T.","family":"Jordan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Rani","family":"Elwy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.pec.2020.09.029_bib0005","series-title":"Improving Diagnosis in Health Care","author":"National Academies of Sciences Engineering and Medicine","year":"2015"},{"issue":"3","key":"10.1016\/j.pec.2020.09.029_bib0010","doi-asserted-by":"crossref","first-page":"385","DOI":"10.4300\/JGME-D-13-00072.1","article-title":"\u201cBest practice\u201d for patient-centered communication: a narrative review","volume":"5","author":"King","year":"2013","journal-title":"J. Grad. Med. Educ."},{"issue":"1","key":"10.1016\/j.pec.2020.09.029_bib0015","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/bmjqs-2013-002426","article-title":"Diagnosis and diagnostic errors: time for a new paradigm","volume":"23","author":"Schiff","year":"2014","journal-title":"BMJ Qual. Saf."},{"issue":"Suppl 2","key":"10.1016\/j.pec.2020.09.029_bib0020","doi-asserted-by":"crossref","first-page":"ii11","DOI":"10.1136\/bmjqs-2012-001616","article-title":"How much diagnostic safety can we afford, and how should we decide? A health economics perspective","volume":"22","author":"Newman-Toker","year":"2013","journal-title":"BMJ Qual. Saf."},{"issue":"1","key":"10.1016\/j.pec.2020.09.029_bib0025","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.ymgme.2008.10.003","article-title":"Clinical research for rare disease: opportunities, challenges, and solutions","volume":"96","author":"Griggs","year":"2009","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.pec.2020.09.029_bib0030","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1186\/s13023-017-0730-1","article-title":"Health-related quality of life among adults with diverse rare disorders","volume":"12","author":"Bogart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.pec.2020.09.029_bib0035","series-title":"Advances in Patient Safety: New Directions and Alternative Approaches (Vol. 3: Performance and Tools)","first-page":"90","article-title":"Improving patient safety through provider communication strategy enhancements","author":"Dingley","year":"2008"},{"issue":"4","key":"10.1016\/j.pec.2020.09.029_bib0040","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1108\/20420911111188443","article-title":"Survey of patients\u2019 and families\u2019 experiences of rare diseases reinforces calls for a rare disease strategy","volume":"2","author":"Nutt","year":"2011","journal-title":"Soc. Care Neurodisability"},{"key":"10.1016\/j.pec.2020.09.029_bib0045","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13023-016-0409-z","article-title":"Survey of healthcare experiences of Australian adults living with rare diseases","volume":"11","author":"Molster","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.pec.2020.09.029_bib0050","series-title":"The Voice of 12,000 Patients: Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe","author":"EURORDIS","year":"2009"},{"key":"10.1016\/j.pec.2020.09.029_bib0055","article-title":"Navigating the unknown: a content analysis of the unique challenges faced by adults with rare diseases","author":"Bryson","year":"2019","journal-title":"J. Health Psychol."},{"issue":"3","key":"10.1016\/j.pec.2020.09.029_bib0060","first-page":"E81","article-title":"The Neurofibromatoses. Part 2: NF2 and Schwannomatosis","volume":"6","author":"Lu-Emerson","year":"2009","journal-title":"Rev. Neurol. Dis."},{"issue":"11","key":"10.1016\/j.pec.2020.09.029_bib0065","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1136\/jnnp-2018-318538","article-title":"Schwannomatosis: a genetic and epidemiological study","volume":"89","author":"Evans","year":"2018","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"10","key":"10.1016\/j.pec.2020.09.029_bib0070","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1634\/theoncologist.2012-0162","article-title":"Clinical features of schwannomatosis: a retrospective analysis of 87 patients","volume":"17","author":"Merker","year":"2012","journal-title":"Oncologist"},{"issue":"2","key":"10.1016\/j.pec.2020.09.029_bib0075","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/ajmg.a.38024","article-title":"Creation of an international registry to support discovery in schwannomatosis","volume":"173","author":"Ostrow","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.pec.2020.09.029_bib0080","series-title":"Constructing Grounded Theory","author":"Charmaz","year":"2014"},{"issue":"1","key":"10.1016\/j.pec.2020.09.029_bib0085","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1177\/1525822X05279903","article-title":"How many interviews are enough?:an experiment with data saturation and variability","volume":"18","author":"Guest","year":"2006","journal-title":"Field methods"},{"issue":"2","key":"10.1016\/j.pec.2020.09.029_bib0090","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1258\/jhsrp.2011.010113","article-title":"The Andersen Model of Total Patient Delay: a systematic review of its application in cancer diagnosis","volume":"17","author":"Walter","year":"2012","journal-title":"J. Health Serv. Res. Policy"},{"key":"10.1016\/j.pec.2020.09.029_bib0095","series-title":"Qualitative Data Analysis\u202f: an Expanded Sourcebook","author":"Miles","year":"2004"},{"key":"10.1016\/j.pec.2020.09.029_bib0100","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1186\/1471-2288-13-117","article-title":"Using the framework method for the analysis of qualitative data in multi-disciplinary health research","volume":"13","author":"Gale","year":"2013","journal-title":"BMC Med. Res. Methodol."},{"issue":"1","key":"10.1016\/j.pec.2020.09.029_bib0105","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1177\/1744987107081254","article-title":"Memoing in qualitative research: probing data and processes","volume":"13","author":"Birks","year":"2008","journal-title":"J. Res. Nurs."},{"issue":"3","key":"10.1016\/j.pec.2020.09.029_bib0110","first-page":"252","article-title":"The generalizability of the psychoanalytic concept of the working alliance, Psychotherapy: theory","volume":"16","author":"Bordin","year":"1979","journal-title":"Res. Practice"},{"issue":"270","key":"10.1016\/j.pec.2020.09.029_bib0115","article-title":"Therapeutic alliance and outcome of psychotherapy: historical excursus, measurements, and prospects for research","volume":"2","author":"Ardito","year":"2011","journal-title":"Front. Psychol."},{"issue":"11","key":"10.1016\/j.pec.2020.09.029_bib0120","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.1007\/s11606-019-04860-8","article-title":"Communicating uncertainty: a narrative review and framework for future research","volume":"34","author":"Simpkin","year":"2019","journal-title":"J. Gen. Intern. Med."},{"issue":"2","key":"10.1016\/j.pec.2020.09.029_bib0125","first-page":"121","article-title":"Diagnostic uncertainty: from education to communication","volume":"6","author":"Santhosh","year":"2019","journal-title":"Diagnosis Berl. (Berl)"},{"key":"10.1016\/j.pec.2020.09.029_bib0130","series-title":"Patient-Centered Communication in Cancer Care: Promoting Healing and Reducing Suffering","author":"Epstein","year":"2007"},{"issue":"11","key":"10.1016\/j.pec.2020.09.029_bib0135","doi-asserted-by":"crossref","first-page":"2487","DOI":"10.1002\/pon.3317","article-title":"Patients\u2019 and family members\u2019 views on patient-centered communication during cancer care","volume":"22","author":"Mazor","year":"2013","journal-title":"Psychooncology"},{"issue":"5","key":"10.1016\/j.pec.2020.09.029_bib0140","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.neuchi.2016.09.008","article-title":"Psychological follow-up care of neurofibromatosis type 2 patients and their relatives","volume":"64","author":"Carillo","year":"2018","journal-title":"Neurochirurgie"},{"issue":"1","key":"10.1016\/j.pec.2020.09.029_bib0145","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-8-22","article-title":"Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support","volume":"8","author":"Anderson","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"issue":"3","key":"10.1016\/j.pec.2020.09.029_bib0150","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1001\/archpsyc.1990.01810150028006","article-title":"The role of the therapeutic alliance in the treatment of schizophrenia: relationship to course and outcome","volume":"47","author":"Frank","year":"1990","journal-title":"Arch. Gen. Psychiatry"},{"issue":"1\u20132","key":"10.1016\/j.pec.2020.09.029_bib0155","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1080\/10503300512331339143","article-title":"The therapeutic relationship: research and theory","volume":"15","author":"Horvath","year":"2005","journal-title":"Psychother. Res."},{"key":"10.1016\/j.pec.2020.09.029_bib0160","series-title":"Rare Diseases and Orphan Products: Accelerating Research and Development","article-title":"Committee on accelerating rare diseases research and orphan product development","author":"Institute of Medicine (US)","year":"2010"},{"issue":"4-5","key":"10.1016\/j.pec.2020.09.029_bib0165","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1159\/000294191","article-title":"Communicating genetic and genomic information: health literacy and numeracy considerations","volume":"14","author":"Lea","year":"2011","journal-title":"Public Health Genomics"},{"issue":"3","key":"10.1016\/j.pec.2020.09.029_bib0170","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/s40271-016-0213-9","article-title":"Perceived benefits and factors that influence the ability to establish and maintain patient support groups in rare diseases: a scoping review","volume":"10","author":"Delisle","year":"2017","journal-title":"Patient"},{"issue":"6","key":"10.1016\/j.pec.2020.09.029_bib0175","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1002\/mgg3.315","article-title":"Living with a rare disorder: a systematic review of the qualitative literature","volume":"5","author":"von der Lippe","year":"2017","journal-title":"Mol. Genet. Genomic Med."},{"issue":"2","key":"10.1016\/j.pec.2020.09.029_bib0180","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0172532","article-title":"Diagnostic needs for rare diseases and shared prediagnostic phenomena: results of a German-wide expert Delphi survey","volume":"12","author":"Bloss","year":"2017","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.pec.2020.09.029_bib0185","doi-asserted-by":"crossref","first-page":"e230","DOI":"10.1212\/NXG.0000000000000230","article-title":"Diagnostic odyssey of patients with mitochondrial disease: results of a survey","volume":"4","author":"Grier","year":"2018","journal-title":"Neurol. Genet."},{"issue":"3","key":"10.1016\/j.pec.2020.09.029_bib0190","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.mayocp.2015.12.018","article-title":"outcome of whole exome sequencing for diagnostic odyssey cases of an individualized medicine clinic: the mayo clinic experience","volume":"91","author":"Lazaridis","year":"2016","journal-title":"Mayo Clin. Proc."},{"issue":"1","key":"10.1016\/j.pec.2020.09.029_bib0195","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/s13023-017-0622-4","article-title":"A.R.D.I.o.F.S. group, Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays","volume":"12","author":"Zurynski","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"issue":"2","key":"10.1016\/j.pec.2020.09.029_bib0200","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/s10897-014-9773-9","article-title":"\u201cIs it going to hurt?\u201d: the impact of the diagnostic odyssey on children and their families","volume":"24","author":"Carmichael","year":"2015","journal-title":"J. Genet. Couns."},{"issue":"4","key":"10.1016\/j.pec.2020.09.029_bib0205","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/s00431-017-3085-7","article-title":"Reconstructing normality following the diagnosis of a childhood chronic disease: does \u201crare\u201d make a difference?","volume":"177","author":"Germeni","year":"2018","journal-title":"Eur. J. Pediatr."}],"container-title":["Patient Education and Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0738399120305279?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0738399120305279?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:31:46Z","timestamp":1760034706000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0738399120305279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":41,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["S0738399120305279"],"URL":"https:\/\/doi.org\/10.1016\/j.pec.2020.09.029","relation":{},"ISSN":["0738-3991"],"issn-type":[{"value":"0738-3991","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Effective provider-patient communication of a rare disease diagnosis: A qualitative study of people diagnosed with schwannomatosis","name":"articletitle","label":"Article Title"},{"value":"Patient Education and Counseling","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pec.2020.09.029","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}