{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T12:56:39Z","timestamp":1782824199024,"version":"3.54.5"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T00:00:00Z","timestamp":1341964800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1038\/ejhg.2012.147","type":"journal-article","created":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T10:35:19Z","timestamp":1342002919000},"page":"148-153","source":"Crossref","is-referenced-by-count":21,"title":["When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada"],"prefix":"10.1038","volume":"21","author":[{"given":"Alice K","family":"Hawkins","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Creighton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R","family":"Hayden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,7,11]]},"reference":[{"key":"BFejhg2012147_CR1","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/S0140-6736(07)60111-1","volume":"369","author":"FO Walker","year":"2007","unstructured":"Walker FO : Huntington\u2019s disease. Lancet 2007; 369: 218\u2013228.","journal-title":"Lancet"},{"key":"BFejhg2012147_CR2","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","volume":"72","author":"ME MacDonald","year":"1993","unstructured":"MacDonald ME, Ambrose CM, Duyao MP et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington\u2019s disease chromosomes. Cell 1993; 72: 971\u2013983.","journal-title":"Cell"},{"key":"BFejhg2012147_CR3","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4471-1308-9","volume-title":"Huntington\u2019s Chorea","author":"M Hayden","year":"1981","unstructured":"Hayden M : Huntington\u2019s Chorea. New York, NY, USA: Springer-Verlag, 1981."},{"key":"BFejhg2012147_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.2217\/nmt.11.85","volume":"2","author":"D Rae","year":"2012","unstructured":"Rae D, Simpson SA : A standard of care for Huntington\u2019s disease: who, what and why. Neurodegen Dis Manage 2012; 2: 1\u20135.","journal-title":"Neurodegen Dis Manage"},{"key":"BFejhg2012147_CR5","doi-asserted-by":"publisher","first-page":"3108","DOI":"10.1001\/jama.1989.03420210056016","volume":"261","author":"J Brandt","year":"1989","unstructured":"Brandt J, Quaid KA, Folstein SE et al. Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington\u2019s disease. JAMA 1989; 261: 3108.","journal-title":"JAMA"},{"key":"BFejhg2012147_CR6","doi-asserted-by":"publisher","first-page":"1401","DOI":"10.1056\/NEJM199405193302001","volume":"330","author":"B Kremer","year":"1994","unstructured":"Kremer B, Goldberg P, Andrew SE et al. A worldwide study of the Huntington\u2019s disease mutation: the sensitivity and specificity of measuring CAG repeats. New Engl J Med 1994; 330: 1401\u20131406.","journal-title":"New Engl J Med"},{"key":"BFejhg2012147_CR7","doi-asserted-by":"publisher","first-page":"1401","DOI":"10.1056\/NEJM199211123272001","volume":"327","author":"S Wiggins","year":"1992","unstructured":"Wiggins S, Whyte P, Huggins M et al. The psychological consequences of predictive testing for Huntington\u2019s disease. NEJM 1992; 327: 1401\u20131405.","journal-title":"NEJM"},{"key":"BFejhg2012147_CR8","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1002\/ajmg.1320540304","volume":"54","author":"AM Codori","year":"1994","unstructured":"Codori AM, Brandt J : Psychological costs and benefits of predictive testing for Huntington\u2019s disease. Am J Med Genet 1994; 54: 174\u2013174.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012147_CR9","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1034\/j.1399-0004.2003.00093.x","volume":"63","author":"S Creighton","year":"2003","unstructured":"Creighton S, Almqvist EW, MacGregor D et al. Predictive, pre-natal and diagnostic genetic testing for Huntington\u2019s disease: the experience in Canada from 1987 to 2000. Clin Genet 2003; 63: 462\u2013475.","journal-title":"Clin Genet"},{"key":"BFejhg2012147_CR10","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1136\/jmg.31.7.555","volume":"31","author":"L Went","year":"1994","unstructured":"Went L : Guidelines for the molecular genetics predictive test in Huntington\u2019s disease. J Med Genet 1994; 31: 555\u2013559.","journal-title":"J Med Genet"},{"key":"BFejhg2012147_CR11","first-page":"606","volume":"55","author":"CM Benjamin","year":"1994","unstructured":"Benjamin CM, Adam S, Wiggins S et al. Proceed with care: direct predictive testing for Huntington disease. Am J Hum Genet 1994; 55: 606.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012147_CR12","doi-asserted-by":"publisher","first-page":"1944","DOI":"10.1016\/S0140-6736(00)03301-8","volume":"356","author":"M Hayden","year":"2000","unstructured":"Hayden M : Predictive testing for Huntington\u2019s disease: the calm after the storm. Lancet 2000; 356: 1944\u20131945.","journal-title":"Lancet"},{"key":"BFejhg2012147_CR13","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1002\/ajmg.1320260206","volume":"26","author":"GJ Meissen","year":"1987","unstructured":"Meissen GJ, Berchek RL : Intended use of predictive testing by those at risk for Huntington disease. Am J Med Genet 1987; 26: 283\u2013293.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012147_CR14","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1038\/ejhg.2008.142","volume":"17","author":"RJ Tassicker","year":"2008","unstructured":"Tassicker RJ, Teltscher B, Trembath MK et al. Problems assessing uptake of Huntington disease predictive testing and a proposed solution. Eur J Hum Genet 2008; 17: 66\u201370.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2012147_CR15","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1111\/j.1399-0004.2010.01538.x","volume":"80","author":"P Morrison","year":"2011","unstructured":"Morrison P, Harding-Lester S, Bradley A : Uptake of Huntington disease predictive testing in a complete population. Clinical Genetics 2011; 80: 281\u2013286.","journal-title":"Clinical Genetics"},{"key":"BFejhg2012147_CR16","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1097\/GIM.0b013e31820c056e","volume":"13","author":"AK Hawkins","year":"2011","unstructured":"Hawkins AK, Hayden MR : A grand challenge: providing benefits of clinical genetics to those in need. Genet Med 2011; 13: 197.","journal-title":"Genet Med"},{"key":"BFejhg2012147_CR17","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1136\/jmedgenet-2011-100352","volume":"48","author":"AK Hawkins","year":"2011","unstructured":"Hawkins AK, Ho A, Hayden MR : Lessons from predictive testing for Huntington disease: 25 years on. J Med Genet 2011; 48: 649\u2013650.","journal-title":"J Med Genet"},{"key":"BFejhg2012147_CR18","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/S0738-3991(98)00086-X","volume":"35","author":"G Evers-Kiebooms","year":"1998","unstructured":"Evers-Kiebooms G, Decruyenaere M : Predictive testing for Huntington\u2019s disease: a challenge for persons at risk and for professionals. Patient Educ Couns 1998; 35: 15\u201326.","journal-title":"Patient Educ Couns"},{"key":"BFejhg2012147_CR19","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1002\/ajmg.1320540302","volume":"54","author":"S Kessler","year":"1994","unstructured":"Kessler S : Predictive testing for Huntington disease: a psychologist\u2019s view. Am J Med Genet 1994; 54: 161\u2013166.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012147_CR20","first-page":"105","volume":"28","author":"K Demyttenaere","year":"1992","unstructured":"Demyttenaere K, Evers-Kiebooms G, Decruyenaere M : Pitfalls in counseling for predictive testing in Huntington disease. Birth Defects Orig Art Ser 1992; 28: 105.","journal-title":"Birth Defects Orig Art Ser"},{"key":"BFejhg2012147_CR21","unstructured":"Statistics Canada2010 Census Data retrieved 10 March 2012 from \n                    http:\/\/www.statcan.gc.ca\/start-debut-eng.html\n                    \n                  (Ottawa, ON, Canada)."},{"key":"BFejhg2012147_CR22","volume-title":"Research Design: Qualitative, Quantitative, and Mixed Method Approaches","author":"J Creswell","year":"2003","unstructured":"Creswell J : Research Design: Qualitative, Quantitative, and Mixed Method Approaches 2nd edn. Thousand Oaks, CA, USA: Sage Publications, 2003."},{"key":"BFejhg2012147_CR23","volume-title":"Basics of Qualitative Research","author":"A Strauss","year":"1998","unstructured":"Strauss A, Corbin J : Basics of Qualitative Research 2nd edn. Thousand Oaks, CA, USA: Sage Publications, 1998."},{"key":"BFejhg2012147_CR24","volume-title":"Constructing Grounded Theory: A Practical Guide Through Qualitative Analysis","author":"K Charmaz","year":"2006","unstructured":"Charmaz K : Constructing Grounded Theory: A Practical Guide Through Qualitative Analysis. Thousand Oaks, CA, USA: Sage Publications, 2006."},{"key":"BFejhg2012147_CR25","doi-asserted-by":"publisher","first-page":"1372","DOI":"10.1177\/1049732307307031","volume":"17","author":"H Starks","year":"2007","unstructured":"Starks H, Brown Trinidad S : Choose your method: a comparison of phenomenology, discourse analysis, and grounded theory. Qual Health Res 2007; 17: 1372.","journal-title":"Qual Health Res"},{"key":"BFejhg2012147_CR26","doi-asserted-by":"publisher","DOI":"10.4135\/9781452230153","volume-title":"Basics of Qualitative Research: Techniques and Procedures for Developing Grounded Theory","author":"J Corbin","year":"2008","unstructured":"Corbin J, Strauss A : Basics of Qualitative Research: Techniques and Procedures for Developing Grounded Theory. Thousand Oaks, CA, USA: Sage Publications, 2008."},{"key":"BFejhg2012147_CR27","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1007\/s10730-005-2233-z","volume":"16","author":"L d\u2019Agincourt-Canning","year":"2004","unstructured":"d\u2019Agincourt-Canning L : Genetic testing for hereditary cancer: Challenges to ethical care in rural and remote communities. HEC Forum 2004; 16: 222\u2013233.","journal-title":"HEC Forum"},{"key":"BFejhg2012147_CR28","doi-asserted-by":"publisher","first-page":"b2175","DOI":"10.1136\/bmj.b2175","volume":"338","author":"Y Bombard","year":"2009","unstructured":"Bombard Y, Veenstra G, Friedman J et al. Perceptions of genetic discrimination among people at risk for Huntington\u2019s disease: a cross sectional survey. Br Med J 2009; 338: b2175.","journal-title":"Br Med J"},{"key":"BFejhg2012147_CR29","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1111\/j.1399-0004.1998.tb03769.x","volume":"54","author":"J Binedell","year":"1998","unstructured":"Binedell J, Soldan JR, Harper PS : Predictive testing for Huntington\u2019s disease: II. Qualitative findings from a study of uptake in South Wales. Clin Genet 1998; 54: 489\u2013496.","journal-title":"Clin Genet"},{"key":"BFejhg2012147_CR30","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1258\/1357633011937191","volume":"7","author":"M Gattas","year":"2001","unstructured":"Gattas M, MacMillan J, Meinecke I, Loane M, Wootton R : Telemedicine and clinical genetics: establishing a successful service. J Telemed Telecare 2001; 7: 68.","journal-title":"J Telemed Telecare"},{"key":"BFejhg2012147_CR31","doi-asserted-by":"publisher","first-page":"2257","DOI":"10.1016\/j.ejca.2005.06.020","volume":"41","author":"J Coelho","year":"2005","unstructured":"Coelho J, Arnold A, Nayler J, Tischkowitz M, MacKay J : An assessment of the efficacy of cancer genetic counselling using real-time videoconferencing technology (telemedicine) compared to face-to-face consultations. Eur J Cancer 2005; 41: 2257\u20132261.","journal-title":"Eur J Cancer"},{"key":"BFejhg2012147_CR32","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1007\/s10897-009-9238-8","volume":"18","author":"L Baumanis","year":"2009","unstructured":"Baumanis L, Evans J, Callanan N, Susswein L : Telephoned BRCA1\/2 genetic test results: prevalence, practice, and patient satisfaction. J Genet Couns 2009; 18: 447\u2013463.","journal-title":"J Genet Couns"},{"key":"BFejhg2012147_CR33","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1258\/135763306777488762","volume":"12","author":"H Stalker","year":"2006","unstructured":"Stalker H, Wilson R, McCune H et al. Telegenetic medicine: improved access to services in an underserved area. J Telemed Telecare 2006; 12: 182.","journal-title":"J Telemed Telecare"},{"key":"BFejhg2012147_CR34","doi-asserted-by":"crossref","unstructured":"Wootton R, Bonnardot L : In what circumstances is telemedicine appropriate in the developing world? JRSM Short Reports 2010, p1.","DOI":"10.1258\/shorts.2010.010045"},{"key":"BFejhg2012147_CR35","unstructured":"National Human Genome Research Institute The Future of Genomic Medicine: Policy Implications for Research and Medicine 2006, \n                    http:\/\/www.genome.gov\/17516574\n                    \n                  ."},{"key":"BFejhg2012147_CR36","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1038\/nature01626","volume":"422","author":"FS Collins","year":"2003","unstructured":"Collins FS, Green ED, Guttmacher AE, Guyer MS, & the National Human Genome Research Institute: A vision for the future of genomics research. Nature 2003; 422: 835\u2013847.","journal-title":"Nature"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012147.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012147","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012147.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:05:56Z","timestamp":1684429556000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2012147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,11]]},"references-count":36,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["BFejhg2012147"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2012.147","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,11]]}}}