{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:46:59Z","timestamp":1792666019049,"version":"4.5.0"},"reference-count":200,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,6,14]],"date-time":"2018-06-14T00:00:00Z","timestamp":1528934400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000866","name":"Cardiff University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000866","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"published-print":{"date-parts":[[2019,1]]},"DOI":"10.1007\/s12687-018-0371-7","type":"journal-article","created":{"date-parts":[[2018,6,14]],"date-time":"2018-06-14T06:11:30Z","timestamp":1528956690000},"page":"3-33","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Ethics in genetic counselling"],"prefix":"10.1007","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1200-9286","authenticated-orcid":false,"given":"Angus J.","family":"Clarke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina","family":"Wallgren-Pettersson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,6,14]]},"reference":[{"key":"371_CR1","volume-title":"Little people in America: the social dimensions of dwarfism","author":"J Ablon","year":"1984","unstructured":"Ablon J (1984) Little people in America: the social dimensions of dwarfism. Praeger, New York"},{"key":"371_CR2","first-page":"673","volume-title":"Neurofibromatosis type 1: molecular and cellular biology","author":"J Ablon","year":"2013","unstructured":"Ablon J (2013) Social stigma in neurofibromatosis 1. Chapter 22. In: Upadhyaya M, Cooper DN (eds) Neurofibromatosis type 1: molecular and cellular biology. Springer-Verlag, Berlin, pp 673\u2013682"},{"key":"371_CR3","volume-title":"Lives of dwarfs; their journey from public curiosity toward social liberation","author":"BM Adelson","year":"2005","unstructured":"Adelson BM (2005) Lives of dwarfs; their journey from public curiosity toward social liberation. Rutgers University Press, Piscataway"},{"key":"371_CR4","volume-title":"Children's consent to surgery","author":"P Alderson","year":"1993","unstructured":"Alderson P (1993) Children's consent to surgery. Open University Press, Milton Keynes"},{"key":"371_CR5","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1016\/S0277-9536(00)00365-8","volume":"53","author":"P Alderson","year":"2001","unstructured":"Alderson P (2001) Down\u2019s syndrome: cost, quality and value of life. Soc Sci Med 53:627\u2013638","journal-title":"Soc Sci Med"},{"key":"371_CR6","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1034\/j.1399-0004.2003.00045.x","volume":"63","author":"MJ Aldred","year":"2003","unstructured":"Aldred MJ, Crawford PJM, Savarirayan R, Savulescu J (2003) It's only teeth \u2013 are there limits to genetic testing? Clin Genet 63:333\u2013339 [and see a response: Boddington P, Clarke A. 2004. Clin Genet. 66: 562\u20134]","journal-title":"Clin Genet"},{"key":"371_CR7","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1136\/medethics-2016-103564","volume":"43","author":"JA Anderson","year":"2017","unstructured":"Anderson JA, Meyn MS, Shuman C, Zlotnik Shaul R, Mantella LE, Szego MJ, Bowdin S, Monfared N, Hayeems RZ (2017) Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? J Med Ethics 43:535\u2013539","journal-title":"J Med Ethics"},{"key":"371_CR8","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1007\/s10897-008-9201-0","volume":"18","author":"M Arribas-Ayllon","year":"2009","unstructured":"Arribas-Ayllon M, Sarangi S, Clarke A (2009) Professional ambivalence: accounts of ethical practice in childhood genetic testing. J Genet Couns. 18:173\u2013184","journal-title":"J Genet Couns."},{"key":"371_CR9","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1177\/0011392107084380","volume":"56","author":"K Atkin","year":"2008","unstructured":"Atkin K, Ahmed S, Hewison J, Green JM (2008) Decision-making and antenatal screening for sickle cell and thalassaemia disorders. Curr Sociol 56:77\u201398","journal-title":"Curr Sociol"},{"key":"371_CR10","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1038\/ejhg.2016.36","volume":"24","author":"SS Baig","year":"2016","unstructured":"Baig SS, Strong M, Rosser E, Taverner NV, Glew R, Miedzybrodzka Z, Clarke A, Craufurd D, UK Huntington\u2019s Disease Prediction Consortium, Quarrell OW (2016) 22 years of predictive testing for Huntington's disease: The Experience of the UK Huntington's Prediction Consortium. Eur J Hum Genet 24:1396\u20131402","journal-title":"Eur J Hum Genet"},{"key":"371_CR11","doi-asserted-by":"crossref","unstructured":"Barter B, Hastings RP, Williams R, Huws JC (2017) Perceptions and discourses relating to genetic testing: interviews with people with Down syndrome. J Appl Res Intellect Disabil. 30:395\u2013406","DOI":"10.1111\/jar.12256"},{"key":"371_CR12","volume-title":"Principles of biomedical ethics","author":"TL Beauchamp","year":"2013","unstructured":"Beauchamp TL, Childress JF (2013) Principles of biomedical ethics, 7th edn. Oxford University Press USA, New York","edition":"7"},{"key":"371_CR13","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1038\/gim.2012.112","volume":"15","author":"JS Berg","year":"2013","unstructured":"Berg JS, Adams M, Nassar N et al (2013) An informatics approach to analyzing the incidentalome. Genet in Med 15:36\u201344","journal-title":"Genet in Med"},{"key":"371_CR14","doi-asserted-by":"crossref","unstructured":"Beskow LM, Burke W, Fullerton SM, Sharp RR (2012) Offering aggregate results to participants in genomic research: opportunities and challenges. Genet Med 14:490\u2013496","DOI":"10.1038\/gim.2011.62"},{"key":"371_CR15","doi-asserted-by":"publisher","first-page":"1867","DOI":"10.1016\/S0277-9536(02)00210-1","volume":"56","author":"A Bharadwaj","year":"2003","unstructured":"Bharadwaj A (2003) Why adoption is not an option in India: the visibility of infertility, the secrecy of donor insemination and other cultural complexities. Soc Sci Med 56:1867\u20131880","journal-title":"Soc Sci Med"},{"key":"371_CR16","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1136\/jmg.33.11.912","volume":"33","author":"J Binedell","year":"1996","unstructured":"Binedell J, Soldan JR, Scourfield J, Harper PS (1996) Huntington disease predictive testing: the case for an assessment approach to requests from adolescents. J Med Genet 33:912\u2013918","journal-title":"J Med Genet"},{"key":"371_CR17","doi-asserted-by":"publisher","first-page":"1316","DOI":"10.1016\/S0140-6736(13)61503-2","volume":"382","author":"AH Bittles","year":"2013","unstructured":"Bittles AH (2013) Consanguineous marriage and congenital anomalies. Lancet 382:1316\u20131317","journal-title":"Lancet"},{"key":"371_CR18","unstructured":"Blackburn S (2001) Being good. Oxford University Press"},{"key":"371_CR19","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1111\/1467-9566.12048","volume":"36","author":"F Boardman","year":"2014","unstructured":"Boardman F (2014a) Knowledge is power? The role of experiential knowledge in genetically \u2018risky\u2019 reproductive decisions. Sociol Health Illn 36:137\u2013150","journal-title":"Sociol Health Illn"},{"key":"371_CR20","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.socscimed.2014.02.025","volume":"107","author":"F Boardman","year":"2014","unstructured":"Boardman F (2014b) The expressivist objection to prenatal testing: the experiences of families living with genetic disease. Soc Sci Med 107:18\u201325","journal-title":"Soc Sci Med"},{"key":"371_CR21","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1038\/nrg2666","volume":"10","author":"Y Bombard","year":"2009","unstructured":"Bombard Y, Miller FA, Hayeems RZ, Avard D, Knoppers BM, Cornel MC, Borry P (2009) The expansion of newborn screening: reproductive benefit an appropriate pursuit? Nat Rev Genet 10:686\u2013687 (and see Bombard et al Eur J Hum Genet 2010, 18: 751\u2013760)","journal-title":"Nat Rev Genet"},{"key":"371_CR22","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1002\/ajmg.b.32016","volume":"159B","author":"Y Bombard","year":"2012","unstructured":"Bombard Y, Palin J, Friedman JM, Veenstra G, Creighton S, Bottorff JL, Hayden MR, The Canadian Respond-HD Collaborative Research Group (2012) Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease. Am J Med Genet B 159B:217\u2013226","journal-title":"Am J Med Genet B"},{"key":"371_CR23","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1038\/gim.2012.95","volume":"15","author":"PM Boone","year":"2013","unstructured":"Boone PM, Soens ZT, Campbell IM et al (2013) Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15:45\u201354","journal-title":"Genet Med"},{"issue":"6","key":"371_CR24","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1038\/ejhg.2009.25","volume":"17","author":"P Borry","year":"2009","unstructured":"Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K, Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG) (2009) Genetic testing in asymptomatic minors: background considerations towards ESHG recommendations. Eur J Hum Genet 17(6):711\u2013719 (and Recommendations on pp 720\u20131)","journal-title":"Eur J Hum Genet"},{"key":"371_CR25","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1136\/jme.2010.039230","volume":"37","author":"GT Boslett","year":"2011","unstructured":"Boslett GT (2011) Parental procreative obligation and the categorisation of disease: the case of cystic fibrosis. J Med Ethics 37:280\u2013284","journal-title":"J Med Ethics"},{"key":"371_CR26","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/j.ajhg.2015.05.022","volume":"97","author":"JR Botkin","year":"2015","unstructured":"Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD (2015) American Society of Human Genetics Position Statement. Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents. AJHG 97:6\u201321","journal-title":"AJHG"},{"issue":"1","key":"371_CR27","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1080\/15265161.2016.1251661","volume":"17","author":"JR Botkin","year":"2017","unstructured":"Botkin JR, Francis LP, Rose NC (2017) Concerns about justification for fetal genome sequencing. Am J Bioeth 17(1):23\u201325","journal-title":"Am J Bioeth"},{"key":"371_CR28","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.ymgme.2013.03.008","volume":"109","author":"MG Bouwman","year":"2013","unstructured":"Bouwman MG, de Ru MH, Linthorst GE, Hollak CEM, Wijburg FA, van Zwieten MCB (2013) Fabry patient experiences with the timing of diagnosis relevant for the discussion on newborn screening. Mol Genet Metab 109:201\u2013207","journal-title":"Mol Genet Metab"},{"issue":"4","key":"371_CR29","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1177\/0038038509105419","volume":"43","author":"R Bridgens","year":"2009","unstructured":"Bridgens R (2009) Disability and being `normal': a response to McLaughlin and Goodley. Sociology 43(4):753\u2013761","journal-title":"Sociology"},{"key":"371_CR30","unstructured":"British Society for Human Genetics (2010) Genetic Testing of Children: Report of a working party of the British Society for Human Genetics (available from the website of the British Society of Genetic Medicine: http:\/\/www.bsgm.org.uk\/media\/678741\/gtoc_booklet_final_new.pdf )"},{"key":"371_CR31","volume-title":"Neurogenetic diagnoses: the power of hope and the limits of today's medicine: the power of hope and the limits of today\u2019s medicine","author":"CH Browner","year":"2010","unstructured":"Browner CH, Preloran HM (2010) Neurogenetic diagnoses: the power of hope and the limits of today's medicine: the power of hope and the limits of today\u2019s medicine. Routledge, Abingdon"},{"key":"371_CR32","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.1016\/j.socscimed.2011.02.036","volume":"72","author":"L Bryant","year":"2011","unstructured":"Bryant L, Ahmed S, Ahmed M, Jafri H, Raashid Y (2011) \u2018All is done by Allah\u2019. Understandings of Down syndrome and prenatal testing in Pakistan. Soc Sci Med 72:1393\u20131399","journal-title":"Soc Sci Med"},{"issue":"7","key":"371_CR33","doi-asserted-by":"publisher","first-page":"1014","DOI":"10.1016\/j.socscimed.2011.06.062","volume":"73","author":"M Buchbinder","year":"2011","unstructured":"Buchbinder M, Timmermans S (2011) Newborn screening and maternal diagnosis: rethinking family benefit. Soc Sci Med 73(7):1014\u20131018","journal-title":"Soc Sci Med"},{"key":"371_CR34","doi-asserted-by":"publisher","first-page":"1048","DOI":"10.1136\/archdischild-2013-304109","volume":"101","author":"K Burke","year":"2016","unstructured":"Burke K, Clarke A (2016) The challenge of consent in clinical genome-wide testing. Arch Dis Child 101:1048\u20131052","journal-title":"Arch Dis Child"},{"key":"371_CR35","doi-asserted-by":"publisher","DOI":"10.1093\/acprof:oso\/9780199669653.001.0001","volume-title":"Phenomenology of Illness","author":"H Carel","year":"2016","unstructured":"Carel H (2016) Phenomenology of Illness. Oxford University Press, Oxford"},{"key":"371_CR36","unstructured":"Chadwick R, Capps B, Chalmers D et al (2013) Imagined futures: capturing the benefits of genome sequencing for society. Human Genome Organisation"},{"issue":"1","key":"371_CR37","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1080\/15265161.2016.1251632","volume":"17","author":"SC Chen","year":"2017","unstructured":"Chen SC, Wasserman DT (2017) A framework for unrestricted prenatal whole-genome sequencing: respecting and enhancing the autonomy of prospective parents. Am J Bioeth 17(1):3\u201318","journal-title":"Am J Bioeth"},{"key":"371_CR38","doi-asserted-by":"publisher","first-page":"998","DOI":"10.1016\/0140-6736(91)91849-P","volume":"338","author":"A Clarke","year":"1991","unstructured":"Clarke A (1991) Is non-directive genetic counselling possible? Lancet 338:998\u20131001","journal-title":"Lancet"},{"key":"371_CR39","first-page":"179","volume-title":"Genetics, society and clinical practice","author":"A Clarke","year":"1997","unstructured":"Clarke A (1997) The process of genetic counselling: beyond nondirectiveness. Chapter 13. In: Harper P, Clarke AJ (eds) Genetics, society and clinical practice. Bios Scientific Publishers, Oxford, pp 179\u2013200"},{"key":"371_CR40","doi-asserted-by":"crossref","unstructured":"Clarke A. 2013. Stigma, self-esteem and reproduction: talking with men about life with hypohidrotic ectodermal dysplasia. Sociology 47: 975\u2013993","DOI":"10.1177\/0038038513493536"},{"issue":"1","key":"371_CR41","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1093\/bmb\/ldu017","volume":"111","author":"AJ Clarke","year":"2014","unstructured":"Clarke AJ (2014) Managing the ethical challenges of next generation sequencing in genomic medicine. Br Med Bull 111(1):17\u201330","journal-title":"Br Med Bull"},{"key":"371_CR42","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/j.socscimed.2016.04.027","volume":"158","author":"A Clarke","year":"2016","unstructured":"Clarke A (2016) Anticipated stigma and blameless guilt: mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (hed). Soc Si Med 158:141\u2013148","journal-title":"Soc Si Med"},{"key":"371_CR43","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1038\/sj.ejhg.5201394","volume":"13","author":"A Clarke","year":"2005","unstructured":"Clarke A et al (2005) Genetic professionals\u2019 reports of non-disclosure of genetic risk information within families. Eur J Hum Genet 13:556\u2013562","journal-title":"Eur J Hum Genet"},{"key":"371_CR44","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/1479-7364-6-11","volume":"6","author":"A Clarke","year":"2012","unstructured":"Clarke A, Cooper DN, Krawczak M, Tyler-Smith C, Wallace H, Wilkie A, Raymond L, Chadwick R, Craddock N, John R, Gallacher J, Chiano M (2012) \u2018Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care. Human Genomics 6:11. https:\/\/doi.org\/10.1186\/1479-7364-6-11","journal-title":"Human Genomics"},{"key":"371_CR45","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1046\/j.1467-9566.2003.00369.x","volume":"25","author":"O Corrigan","year":"2003","unstructured":"Corrigan O (2003) Empty ethics: the problem of informed consent. Sociol Health Illn 25:768\u2013792","journal-title":"Sociol Health Illn"},{"key":"371_CR46","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1111\/1467-8519.00234","volume":"15","author":"L d\u2019Agincourt-Canning","year":"2001","unstructured":"d\u2019Agincourt-Canning L (2001) Experiences of genetic risk: disclosure and the gendering of responsibility. Bioethics 15:231\u2013247","journal-title":"Bioethics"},{"key":"371_CR47","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1111\/bioe.12125","volume":"29","author":"Z Deans","year":"2014","unstructured":"Deans Z, Clarke A, Newson A (2014) For your interest? The ethical acceptability of using non-invasive prenatal testing to test \u201cpurely for information\u201d. Bioethics 29:19\u201325","journal-title":"Bioethics"},{"issue":"10","key":"371_CR48","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1001\/jama.2014.1717","volume":"311","author":"FE Dewey","year":"2014","unstructured":"Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JPA, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T (2014) Clinical interpretation and implications of whole-genome sequencing. JAMA 311(10):1035\u20131044","journal-title":"JAMA"},{"key":"371_CR49","doi-asserted-by":"crossref","unstructured":"Dheensa S, Carrieri D, Kelly S, Clarke A, Doheny S, Turnpenny P, Lucassen A (2017) A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation. Eur J Med Genet. 60(7):403\u2013409","DOI":"10.1016\/j.ejmg.2017.05.001"},{"key":"371_CR50","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1007\/s10897-005-0619-3","volume":"14","author":"C Downing","year":"2005","unstructured":"Downing C (2005) Negotiating responsibility: case studies of reproductive decision-making and prenatal genetic testing in families facing HD. J Genet Couns 14:219\u2013234","journal-title":"J Genet Couns"},{"key":"371_CR51","doi-asserted-by":"crossref","unstructured":"Duncan RE, Gillam L, Savulescu J et al 2008. \u201cYou\u2019re one of us now\u201d: young people describe their experiences of predictive genetic testing for HD and FAP. Am J Med Genet 148C; 47\u201355","DOI":"10.1002\/ajmg.c.30158"},{"key":"371_CR52","volume-title":"Backdoor to Eugenics (2nd Edition).","author":"T Duster","year":"2003","unstructured":"Duster T (2003) Backdoor to Eugenics (2nd Edition). Routledge, Abingdon"},{"key":"371_CR53","doi-asserted-by":"publisher","unstructured":"Edwards SD. 2006. Disability: philosophical issues. Wiley Online Encyclopedia of the Life Sciences (eLS). https:\/\/doi.org\/10.1002\/9780470015902.a0006178","DOI":"10.1002\/9780470015902.a0006178"},{"issue":"3","key":"371_CR54","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1097\/AOG.0000000000000666","volume":"125","author":"JG Edwards","year":"2015","unstructured":"Edwards JG, Feldman G, Goldberg J, Gregg AR, Norton ME, Rose NC, Schneider A, Stoll K, Wapner R, Watson MS (2015) Expanded carrier screening in reproductive medicine\u2014points to consider. A Joint Statement of the ACMG, ACOG, NSGC, Perinatal Quality Foundation and Society for Maternal-Fetal Medicine. Obstet Gynecol 125(3):653\u2013662","journal-title":"Obstet Gynecol"},{"key":"371_CR55","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1136\/jmg.37.2.135","volume":"37","author":"G Elwyn","year":"2000","unstructured":"Elwyn G, Gray J, Clarke A (2000) Shared decision making and non-directiveness in genetic counselling. J Med Genet 37:135\u2013138","journal-title":"J Med Genet"},{"key":"371_CR56","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1002\/ajmg.b.31079","volume":"153B","author":"C Erwin","year":"2010","unstructured":"Erwin C, Williams JK, Juhl AR, Mengeling M, Mills JA, Bombard Y, Hayden MR, Quaid K, Shoulson I, Taylor S, Paulsen JS, the IRESPOND-HD Investigators of the Huntington Study Group (2010) Perception, experience, and response to genetic discrimination in Huntington disease: the International RESPOND-HD Study. Am J Med Genet Part B 153B:1081\u20131093","journal-title":"Am J Med Genet Part B"},{"key":"371_CR57","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1007\/s10897-006-9018-7","volume":"15","author":"H Etchegary","year":"2006","unstructured":"Etchegary H (2006) Discovering the family history of Huntington disease (HD). J Genetic Couns 15:105\u2013117","journal-title":"J Genetic Couns"},{"issue":"59","key":"371_CR58","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1002\/ajmg.1320590117","volume":"1995","author":"J Fanos","year":"1995","unstructured":"Fanos J, Johnson J (1995a) Barriers to carrier testing for adult cystic fibrosis sibs: the importance of not knowing. Am J Med Genet 1995(59):85\u201391","journal-title":"Am J Med Genet"},{"key":"371_CR59","first-page":"431","volume":"57","author":"J Fanos","year":"1995","unstructured":"Fanos J, Johnson J (1995b) Perception of carrier status by cystic fibrosis siblings. Am J Hum Genet 57:431\u2013438","journal-title":"Am J Hum Genet"},{"key":"371_CR60","volume-title":"Risky relations. Family and kinship in the era of new genetics","author":"K Featherstone","year":"2006","unstructured":"Featherstone K, Bharadwaj A, Clarke A, Atkinson P (2006) Risky relations. Family and kinship in the era of new genetics. Berg Publishers, Oxford"},{"issue":"5","key":"371_CR61","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1353\/hcr.0.0062","volume":"38","author":"EK Feder","year":"2008","unstructured":"Feder EK, Karkazis K (2008) What's in a name? The controversy over \"Disorders of Sex Development\". Hast Cent Rep 38(5):33\u201336","journal-title":"Hast Cent Rep"},{"key":"371_CR62","doi-asserted-by":"crossref","unstructured":"Firth M, Gardner-Medwin D, Hosking G, Wilkinson E. 1983. Interviews with parents of boys suffering from Duchenne muscular dystrophy Dev Med Child Neurol 25(4):466\u201371","DOI":"10.1111\/j.1469-8749.1983.tb13791.x"},{"key":"371_CR63","unstructured":"Flew A (1975) Thinking about thinking. Fontana\/Collins"},{"key":"371_CR64","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1111\/cge.12439","volume":"87","author":"K Forrest Keenan","year":"2015","unstructured":"Forrest Keenan K, McKee L, Miedzybrodzka Z (2015) Help or hindrance: young people\u2019s experiences of predictive testing for Huntington\u2019s disease. Clin Genet 87:563\u2013569","journal-title":"Clin Genet"},{"key":"371_CR65","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1034\/j.1399-0004.2003.00142.x","volume":"64","author":"K Forrest","year":"2003","unstructured":"Forrest K, Simpson SA, Wilson BJ, van Teijlingen ER, McKee L, Haites N, Matthews E (2003) To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clin Genet 64:317\u2013326","journal-title":"Clin Genet"},{"key":"371_CR66","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1080\/08870440410001684168","volume":"19","author":"C Foster","year":"2004","unstructured":"Foster C et al (2004) Juggling roles and expectations: dilemmas faced by women talking to relatives about cancer and genetic testing. Psychol Health 19:439\u2013455","journal-title":"Psychol Health"},{"key":"371_CR67","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1007\/s10897-006-9028-5","volume":"15","author":"C Gaff","year":"2006","unstructured":"Gaff C, Lynch E, Spencer L (2006) Predictive testing of eighteen-year olds: counseling challenges. J Genet Couns 15:245\u2013251","journal-title":"J Genet Couns"},{"key":"371_CR68","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1136\/jme.2008.026880","volume":"35","author":"E Garc\u00eda","year":"2009","unstructured":"Garc\u00eda E, Timmermans DR, van Leeuwen E (2009) Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences. J Med Ethics 35:410\u2013414","journal-title":"J Med Ethics"},{"issue":"8","key":"371_CR69","doi-asserted-by":"publisher","first-page":"1930","DOI":"10.1002\/ajmg.a.34107","volume":"155A","author":"E Geelen","year":"2011","unstructured":"Geelen E, van Hoyweghen I, Doevendans PA, Marcelis CLM, Horstman K (2011) Constructing \u2018Best Interests\u2019: Genetic testing of children in families with hypertrophic cardiomyopathy. Am J Med Genet A 155A(8):1930\u20131938","journal-title":"Am J Med Genet A"},{"issue":"7","key":"371_CR70","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/gim.2013.73","volume":"15","author":"RC Green","year":"2013","unstructured":"Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire A, Nussbaum RL, O\u2019Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG (2013) ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. Genet Med 15(7):565\u2013574 [N.B. SEE ALSO American College of Medical Genetics and Genomics (ACMG). 2013. Incidental Findings in Clinical Genomics: A Clarification. A Policy Statement of the American College of Medical Genetics and Genomics, Bethesda, MD]]","journal-title":"Genet Med"},{"key":"371_CR71","unstructured":"Hall A, Hallowell N, Zimmern R (2013) Managing incidental and pertinent findings from WGS in the 100,000 Genomes Project. Public Health Genomics Foundation"},{"key":"371_CR72","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1136\/jme.29.2.74","volume":"29","author":"N Hallowell","year":"2003","unstructured":"Hallowell N, Foster C, Eeles R, Ardern-Jones A, Murday V, Watson M (2003) Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics 29:74\u201379","journal-title":"J Med Ethics"},{"issue":"7","key":"371_CR73","doi-asserted-by":"publisher","first-page":"969","DOI":"10.1111\/j.1467-9566.2006.522_2.x","volume":"28","author":"N Hallowell","year":"2006","unstructured":"Hallowell N, Arden-Jones A, Eeles R, Foster C, Lucassen A, Moynihan C, Watson M (2006) Guilt, blame and responsibility: men's understanding of their role in the transmission of BRCA1\/2 mutations within the family. Sociol Health Illn 28(7):969\u2013988","journal-title":"Sociol Health Illn"},{"key":"371_CR74","doi-asserted-by":"crossref","unstructured":"Halverson CM, Ross LF (2012) Incidental findings of therapeutic misconception in biobank-based research. Genet Med. 14:611\u2013615","DOI":"10.1038\/gim.2011.50"},{"key":"371_CR75","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1097\/GIM.0b013e318217477f","volume":"13","author":"H Hamamy","year":"2011","unstructured":"Hamamy H, Antonarakis SE, Cavalli-Sforza LL et al (2011) Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet in Med 13:841\u2013847","journal-title":"Genet in Med"},{"key":"371_CR76","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1016\/j.socscimed.2011.12.031","volume":"74","author":"KR Hampshire","year":"2012","unstructured":"Hampshire KR, Blell MT, Simpson B (2012) \u2018Everybody is moving on\u2019: Infertility, relationality and the aesthetics of family life among British-Pakistani Muslims. Soc Sci Med 74:1045\u20131052","journal-title":"Soc Sci Med"},{"key":"371_CR77","doi-asserted-by":"publisher","first-page":"1224","DOI":"10.1016\/S0140-6736(96)05222-1","volume":"348","author":"PS Harper","year":"1996","unstructured":"Harper PS (1996) Naming of syndromes and unethical activities: the case of Hallervorden and Spatz. Lancet 348:1224\u20131225 [and pp 221\u2013225, in Genetics, Society and Clinical Practice Harper P and Clarke AJ, Oxford, Bios Scientific Publishers 1997]","journal-title":"Lancet"},{"key":"371_CR78","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1038\/ejhg.2012.147","volume":"21","author":"AK Hawkins","year":"2013","unstructured":"Hawkins AK, Creighton S, Hayden MR (2013) When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada. Eur J Hum Genet 21:148\u2013153","journal-title":"Eur J Hum Genet"},{"key":"371_CR79","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/ejhg.2012.101","volume":"21","author":"ATGM Helderman-van den Ende","year":"2013","unstructured":"Helderman-van den Ende ATGM, Madan K, Breuning MH et al (2013) An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. EJHG 21:21\u201326","journal-title":"EJHG"},{"key":"371_CR80","doi-asserted-by":"crossref","unstructured":"Helgesson G. 2012. In defence of broad consent. Camb Q Healthc Ethics 21: 40\u201350","DOI":"10.1017\/S096318011100048X"},{"key":"371_CR81","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1002\/ajmg.a.30861","volume":"138A","author":"KSWH Hendriks","year":"2005","unstructured":"Hendriks KSWH, Grosfeld FJM, van Tintelen JP et al (2005) Can parents adjust to the idea that their child is at risk of sudden death? Am J Med Genet 138A:107\u2013112","journal-title":"Am J Med Genet"},{"key":"371_CR82","doi-asserted-by":"publisher","first-page":"2355","DOI":"10.1002\/ajmg.a.32466","volume":"146A","author":"L Hercher","year":"2008","unstructured":"Hercher L, Bruenner G (2008) Living with a child at risk for psychotic illness. Am J Med Genet 146A:2355\u20132360","journal-title":"Am J Med Genet"},{"key":"371_CR83","doi-asserted-by":"crossref","unstructured":"Hesketh T. Getting married in China: pass the medical first. BMJ 2003, 326: 277\u20139","DOI":"10.1136\/bmj.326.7383.277"},{"key":"371_CR84","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1007\/s10897-011-9417-2","volume":"21","author":"C Hippman","year":"2012","unstructured":"Hippman C, Inglis A, Austin J (2012) What is a \u201cbalanced\u201d description? Insight from parents of individuals with Down syndrome. J Genet Couns 21:35\u201344","journal-title":"J Genet Couns"},{"key":"371_CR85","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1111\/j.1471-6712.2007.00561.x","volume":"22","author":"A Ho","year":"2008","unstructured":"Ho A (2008) Relational autonomy or undue pressure? Family\u2019s role in medical decision-making. Scand J Caring Sci 22:128\u2013135","journal-title":"Scand J Caring Sci"},{"key":"371_CR86","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1007\/s10897-009-9248-6","volume":"19","author":"JM Hodgson","year":"2010","unstructured":"Hodgson JM, Gillam LH, Sahhar MA, Metcalfe SA (2010) \"Testing times, challenging choices\": an Australian study of prenatal genetic counseling. J Genet Couns 19:22\u201337","journal-title":"J Genet Couns"},{"key":"371_CR87","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1017\/S0963180104132118","volume":"13","author":"S Holm","year":"2004","unstructured":"Holm S (2004) If you have said A, you must also say B: is this always true? Camb Q Healthc Ethics 13:179\u2013184","journal-title":"Camb Q Healthc Ethics"},{"key":"371_CR88","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s10897-006-9021-z","volume":"5","author":"K Holt","year":"2006","unstructured":"Holt K (2006) What do we tell the children? Contrasting the disclosure choices of two HD families regarding risk status and predictive genetic testing. J Genet Couns 5:253","journal-title":"J Genet Couns"},{"issue":"12","key":"371_CR89","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1038\/ejhg.2014.289","volume":"23","author":"HC Howard","year":"2015","unstructured":"Howard HC, Knoppers BM, Cornel MC, Clayton EW, Senecal K, Borry P (2015) Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur J Hum Genet 23(12):1593\u20131600","journal-title":"Eur J Hum Genet"},{"key":"371_CR90","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1002\/ajmg.1320420417","volume":"42","author":"M Huggins","year":"1992","unstructured":"Huggins M, Bloch M, Wiggins S et al (1992) Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet 42:508\u2013515","journal-title":"Am J Med Genet"},{"key":"371_CR91","volume-title":"Inside information","author":"Human Genetics Commission","year":"2002","unstructured":"Human Genetics Commission (2002) Inside information. Department of Health, London"},{"key":"371_CR92","volume-title":"Increasing options, informing choice: a report on preconception genetic testing and screening","author":"Human Genetics Commission","year":"2011","unstructured":"Human Genetics Commission (2011) Increasing options, informing choice: a report on preconception genetic testing and screening. Dept of Health, London"},{"key":"371_CR93","doi-asserted-by":"crossref","unstructured":"James CA et al. 2003. Perceptions of reproductive risk and carrier testing among adolescent sisters of males with chronic granulomatous disease. Am J Med Genet C Semin Med Genet 119C: 60\u201369","DOI":"10.1002\/ajmg.c.10007"},{"key":"371_CR94","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1002\/ajmg.10057","volume":"104","author":"L Jansen","year":"2001","unstructured":"Jansen L, Ross LF (2001) The ethics of pre-adoption genetic testing. Am J Med Genet 104:214\u2013228","journal-title":"Am J Med Genet"},{"key":"371_CR95","first-page":"615","volume":"36","author":"O Jarvinen","year":"1999","unstructured":"Jarvinen O et al (1999) Carrier testing of children for two X-linked diseases in a family based setting: a retrospective long term psychosocial evaluation. J Med Genet 36:615\u2013620","journal-title":"J Med Genet"},{"key":"371_CR96","first-page":"61","volume-title":"The Genetic Testing of Children","author":"A Jolly","year":"1998","unstructured":"Jolly A, Parsons E, Clarke A (1998) Identifying carriers of balanced chromosomal translocations: interviews with family members. In: Clarke A (ed) The Genetic Testing of Children. Bios Scientific Publishers, Oxford, pp 61\u201390"},{"key":"371_CR97","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1038\/gim.2014.196","volume":"17","author":"J Jurgens","year":"2015","unstructured":"Jurgens J, Ling H, Hetrick K, Pugh E, Schiettecatte F, Doheny K, Hamosh A, Avramopoulos D, Valle D, Sobreira N (2015) Assessment of incidental findings in 232 whole-exome sequences from the Baylor\u2013Hopkins Center for Mendelian Genomics. Genet Med 17:782\u2013788","journal-title":"Genet Med"},{"issue":"2","key":"371_CR98","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1558\/cam.v10i2.177","volume":"10","author":"LC Kaldjian","year":"2013","unstructured":"Kaldjian LC (2013) Communicating moral reasoning in medicine as an expression of respect for patients and integrity among professionals. Commun Med 10(2):177\u2013183","journal-title":"Commun Med"},{"issue":"2","key":"371_CR99","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1038\/gim.2016.190","volume":"19","author":"SS Kalia","year":"2017","unstructured":"Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT, on behalf of the ACMG Secondary Findings Maintenance Working Group (2017) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2017 update. Genet Med 19(2):249\u2013255","journal-title":"Genet Med"},{"issue":"1","key":"371_CR100","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1080\/15265161.2016.1251650","volume":"17","author":"C Kaposy","year":"2017","unstructured":"Kaposy C (2017) Noninvasive prenatal whole-genome sequencing: a solution in search of a problem. Am J Bioeth 17(1):42\u201344","journal-title":"Am J Bioeth"},{"key":"371_CR101","unstructured":"Katz RB (1986) (and revised editons). The tentative pregnancy: amniocentesis and the sexual politics of motherhood. New York: Viking (and London: Pandora)"},{"key":"371_CR102","doi-asserted-by":"publisher","first-page":"1100","DOI":"10.1038\/ejhg.2013.290","volume":"22","author":"J Kaye","year":"2014","unstructured":"Kaye J, Hurles M, Griffin H, Grewal J, Bobrow M, Timpson N, Smee C, Bolton P, Durbin R, Dyke S, Fitzpatrick D, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond LF, Semple R, Spector T, UK10K (2014) Managing clinically significant findings in research: the UK10K example. Eur J Hum Genet 22:1100\u20131104","journal-title":"Eur J Hum Genet"},{"key":"371_CR103","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1007\/s10897-012-9562-2","volume":"22","author":"KF Keenan","year":"2013","unstructured":"Keenan KF, Simpson SA, Miedzybrodzka Z, Alexander DA, Semper J (2013) How do partners find out about the risk of Huntington's disease in couple relationships? J Genet Couns 22:336\u2013344","journal-title":"J Genet Couns"},{"key":"371_CR104","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1111\/j.1467-9566.2008.01110.x","volume":"31","author":"SE Kelly","year":"2009","unstructured":"Kelly SE (2009) Choosing not to choose: reproductive responses of parents of children with genetic conditions or impairments. Sociol Health Illn 31:81\u201397","journal-title":"Sociol Health Illn"},{"key":"371_CR105","first-page":"279","volume":"14A","author":"RH Kenen","year":"1980","unstructured":"Kenen RH (1980) Negotiations, superstitions and the plight of individuals born with severe birth defects. Soc Sci Med 14A:279\u2013286","journal-title":"Soc Sci Med"},{"key":"371_CR106","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1007\/BF00960080","volume":"1","author":"S Kessler","year":"1992","unstructured":"Kessler S (1992) Psychological aspects of genetic counseling. VII. Thoughts on directiveness. J Genet Couns 1:9\u201317","journal-title":"J Genet Couns"},{"key":"371_CR107","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1007\/s10897-006-9080-1","volume":"16","author":"R Klitzman","year":"2007","unstructured":"Klitzman R, Thorne R, Williamson J, Chung W, Marder K (2007) Decision-making about reproductive choices among individuals at risk of Huntington's disease. J Genet Couns 16:347\u2013362","journal-title":"J Genet Couns"},{"key":"371_CR108","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1038\/ejhg.2013.176","volume":"22","author":"BM Knoppers","year":"2014","unstructured":"Knoppers BM, Avard D, S\u00e9n\u00e9cal K, Zawati MH, P3G International Paediatrics Platform Members (2014) Return of whole-genome sequencing results in paediatric research: a statement of the P3G international paediatrics platform. Eur J Hum Genet 22:3\u20135","journal-title":"Eur J Hum Genet"},{"key":"371_CR109","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1038\/nrg3960","volume":"16","author":"BM Knoppers","year":"2015","unstructured":"Knoppers BM, Zawati MH, S\u00e9n\u00e9cal K (2015) Return of genetic testing results in the era of whole-genome sequencing. Nat Rev Genet 16:553\u2013559","journal-title":"Nat Rev Genet"},{"key":"371_CR110","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511584183","volume-title":"Narrating the new predictive genetics: ethics, ethnography and science","author":"M Konrad","year":"2005","unstructured":"Konrad M (2005) Narrating the new predictive genetics: ethics, ethnography and science. Cambridge University Press, Cambridge"},{"issue":"1","key":"371_CR111","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1086\/495318","volume":"24","author":"GH Landsman","year":"1998","unstructured":"Landsman GH (1998) Reconstructing motherhood in the age of \u201cperfect\u201d babies: mothers of infants and toddlers with disabilities. Signs 24(1):69\u201399","journal-title":"Signs"},{"key":"371_CR112","doi-asserted-by":"publisher","first-page":"1947","DOI":"10.1016\/S0277-9536(02)00215-0","volume":"56","author":"G Landsman","year":"2003","unstructured":"Landsman G (2003) Emplotting children\u2019s lives: developmental delay vs. disability. Soc Sci Med 56:1947\u20131960","journal-title":"Soc Sci Med"},{"issue":"5","key":"371_CR113","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1001\/jama.2011.32","volume":"305","author":"JD Lantos","year":"2011","unstructured":"Lantos JD, Matlock AM, Wendler D (2011) Clinician integrity and limits to patient autonomy. JAMA 305(5):495\u2013499","journal-title":"JAMA"},{"issue":"4","key":"371_CR114","first-page":"936","volume":"51","author":"A Lippman","year":"1992","unstructured":"Lippman A, Wilfond BS (1992) Twice-told tales: stories about genetic disorders. Am J Hum Genet 51(4):936\u2013937","journal-title":"Am J Hum Genet"},{"key":"371_CR115","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1016\/S0140-6736(00)04240-9","volume":"357","author":"A Lucassen","year":"2001","unstructured":"Lucassen A, Parker M (2001) Revealing false paternity: some ethical considerations. Lancet 357:1033\u20131035","journal-title":"Lancet"},{"issue":"6","key":"371_CR116","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1002\/(SICI)1096-8628(19991215)88:6<662::AID-AJMG16>3.0.CO;2-A","volume":"88","author":"A Maat-Kievit","year":"1999","unstructured":"Maat-Kievit A, Vegter-Van Der Vlis M, Zoeteweij M, Losekoot M, van Haeringen A, Roos RA (1999) Predictive testing of 25 percent at-risk individuals for Huntington disease (1987\u20131997). Am J Med Genet 88(6):662\u2013668","journal-title":"Am J Med Genet"},{"issue":"3","key":"371_CR117","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1111\/j.1399-0004.2012.01900.x","volume":"83","author":"R MacLeod","year":"2013","unstructured":"MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Joes A, Martinez-Descales A, Roos RA (2013) Recommendations for the predictive genetic test in Huntington\u2019s disease. Clin Genet 83(3):221\u2013231","journal-title":"Clin Genet"},{"issue":"3","key":"371_CR118","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1038\/ejhg.2013.143","volume":"22","author":"R MacLeod","year":"2014","unstructured":"MacLeod R, Beach A, Henriques S, Knopp J, Nelson K, Kerzin-Storrar L (2014) Experiences of predictive testing in young people at risk of Huntington\u2019s disease, familial cardiomyopathy or hereditary breast and ovarian cancer. Eur J Hum Genet 22(3):396\u2013401","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"371_CR119","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1038\/gim.2013.172","volume":"16","author":"K Madan","year":"2014","unstructured":"Madan K, Breuning MH (2014) Impact of prenatal technologies on the sex ratio in India: an overview. Genet Med 16(6):425\u2013432","journal-title":"Genet Med"},{"key":"371_CR120","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1038\/gim.2013.15","volume":"15","author":"C Mand","year":"2013","unstructured":"Mand C, Gillam L, Duncan RE, Delatycki MB (2013) \u201cIt was the missing piece\u201d: adolescent experiences of predictive genetic testing for adult-onset conditions. Genet Med 15:643\u2013649 [and this commentary by Angus Clarke that accompanies a related article: J Med Ethics 2013, 38:527\u2013528]","journal-title":"Genet Med"},{"key":"371_CR121","doi-asserted-by":"publisher","first-page":"19","DOI":"10.2190\/NN3E-5KE8-K2R0-LA3L","volume":"9","author":"DM Manjoney","year":"1978","unstructured":"Manjoney DM, McKegnay FP (1978) Individual and family coping with polycystic kidney disease: the harvest of denial. Int J Psychiatry Med 9:19\u201331","journal-title":"Int J Psychiatry Med"},{"key":"371_CR122","first-page":"1","volume":"10","author":"TM Marteau","year":"2010","unstructured":"Marteau TM, French DP, Griffin SJ, Prevost AT, Sutton S, Watkinson C, Attwood S, Hollands GJ (2010) Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours (review). Cochrane Libr 10:1\u201374","journal-title":"Cochrane Libr"},{"key":"371_CR123","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1038\/gim.2015.58","volume":"17","author":"T May","year":"2015","unstructured":"May T, Strong KA, Khoury MJ, Evans JP (2015) Can targeted genetic testing offer useful health information to adoptees? Genet Med 17:533\u2013535","journal-title":"Genet Med"},{"key":"371_CR124","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1080\/15265161.2016.1251654","volume":"17","author":"J Mazersky","year":"2017","unstructured":"Mazersky J, Sankar P (2017) Mandating moral reflection? Am J Bioeth 17:32\u201334","journal-title":"Am J Bioeth"},{"key":"371_CR125","doi-asserted-by":"crossref","unstructured":"McAllister M, Wood A, Dunn G, Shiloh S and Todd C. 2011. The genetic counseling outcome scale: a new patient-reported outcome measure for clinical genetics services. Clin Genet 79: 413\u2013424","DOI":"10.1111\/j.1399-0004.2011.01636.x"},{"key":"371_CR126","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1146\/annurev.publhealth.012809.103532","volume":"31","author":"CM McBride","year":"2010","unstructured":"McBride CM, Koehly LM, Sanderson SC, Kaphingst KA (2010) The behavioural response to personalised genetic risk information: will genetic risk profiles motivate individuals and families to choose more healthful behaviours? Annu Rev Public Health 31:89\u2013103","journal-title":"Annu Rev Public Health"},{"key":"371_CR127","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1038\/ejhg.2012.149","volume":"21","author":"KA McClellan","year":"2013","unstructured":"McClellan KA, Avard D, Simard J, Knoppers BM (2013) Personalized medicine and access to health care: potential for inequitable access? Eur J Hum Genet 21:143\u2013147","journal-title":"Eur J Hum Genet"},{"key":"371_CR128","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1023\/B:JOGC.0000013379.90587.ef","volume":"13","author":"A McConkie-Rosell","year":"2004","unstructured":"McConkie-Rosell A, Spiridigliozzi GA (2004) \u201cFamily matters\u201d: a conceptual framework for genetic testing in children. J Genet Couns 13:9\u201329","journal-title":"J Genet Couns"},{"key":"371_CR129","doi-asserted-by":"crossref","unstructured":"McCullough LB, Brothers KB, Chung WK, Joffe S, Koenig BA, Wilfond B, Yu JH, on behalf of the Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group 2015 Professionally responsible disclosure of genomic sequencing results in pediatric practice. Pediatrics136(4): e974\u201382","DOI":"10.1542\/peds.2015-0624"},{"key":"371_CR130","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1111\/j.1467-8519.2007.00544.x","volume":"21","author":"R McDougall","year":"2007","unstructured":"McDougall R (2007) Parental virtue: a new way of thinking about the morality of reproductive actions. Bioethics 21:181\u2013189","journal-title":"Bioethics"},{"key":"371_CR131","doi-asserted-by":"crossref","unstructured":"McLaughlin J, Goodley D, Clavering E, Fisher P (2008 Families raising disabled children. Enabling Care and Social Justice. Palgrave Macmillan","DOI":"10.1057\/9780230583511"},{"key":"371_CR132","doi-asserted-by":"publisher","first-page":"73e80","DOI":"10.1016\/j.socscimed.2017.04.026","volume":"182","author":"A Mendes","year":"2017","unstructured":"Mendes A, Sousa L, Sequeiros J, Clarke A (2017) Discredited legacy: stigma and familial amyloid polyneuropathy in northwestern Portugal. Soc Sci Med 182:73e80","journal-title":"Soc Sci Med"},{"key":"371_CR133","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1038\/ejhg.2010.258","volume":"19","author":"A Metcalfe","year":"2011","unstructured":"Metcalfe A, Plumridge G, Coad J, Shanks A, Gill P (2011) Parents\u2019 and children\u2019s communication about genetic risk: a qualitative study, learning from families\u2019 experiences. Eur J Hum Genet 19:640\u2013646","journal-title":"Eur J Hum Genet"},{"key":"371_CR134","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1017\/CBO9780511570049.010","volume-title":"The troubled helix: social and psychological implications of the new human genetics","author":"S Michie","year":"1996","unstructured":"Michie S (1996) Predictive testing in children: paternalism or empiricism? In: Marteau T, Richards M (eds) The troubled helix: social and psychological implications of the new human genetics. Cambridge University Press, Cambridge, pp 177\u2013186"},{"key":"371_CR135","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1111\/j.1467-8519.2004.00390.x","volume":"18","author":"F Moazam","year":"2004","unstructured":"Moazam F (2004) Feminist discourse on sex screening and selective abortion of female fetuses. Bioethics 18:205\u2013220","journal-title":"Bioethics"},{"key":"371_CR136","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1038\/nrg754","volume":"3","author":"B Modell","year":"2002","unstructured":"Modell B, Darr A (2002) Genetic counselling and customary consanguineous marriage. Nat Rev Genet 3:225\u2013229","journal-title":"Nat Rev Genet"},{"issue":"8619","key":"371_CR137","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1016\/S0140-6736(88)90078-5","volume":"2","author":"M Morris","year":"1988","unstructured":"Morris M, Tyler A, Harper PS (1988) Adoption and genetic prediction for Huntington's disease. Lancet 2(8619):1069\u20131070","journal-title":"Lancet"},{"key":"371_CR138","volume-title":"Murderous science","author":"B M\u00fcller-Hill","year":"1988","unstructured":"M\u00fcller-Hill B (1988) Murderous science. Oxford University Press, Oxford"},{"issue":"1","key":"371_CR139","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1080\/15265161.2016.1251658","volume":"17","author":"C Munthe","year":"2017","unstructured":"Munthe C (2017) Permissibility or priority? Testing or screening? Essential distinctions in the ethics of prenatal testing. Am J Bioeth 17(1):30\u201332","journal-title":"Am J Bioeth"},{"key":"371_CR140","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1002\/ajmg.a.35692","volume":"161A","author":"R Nahar","year":"2013","unstructured":"Nahar R, Puri RD, Saxena R, Verma IC (2013) Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures? Am J Med Genet A 161A:76\u201381","journal-title":"Am J Med Genet A"},{"key":"371_CR141","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1136\/medethics-2016-103943","volume":"43","author":"AJ Newson","year":"2017","unstructured":"Newson AJ (2017) 2017. Whole genome sequencing in children: ethics, choice and deliberation. J Med Ethics 43:540\u2013542","journal-title":"J Med Ethics"},{"key":"371_CR142","doi-asserted-by":"crossref","unstructured":"Newson AJ, Humphries SE (2005) Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 2005(13):401\u2013408","DOI":"10.1038\/sj.ejhg.5201360"},{"key":"371_CR143","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1007\/s10689-009-9262-8","volume":"9","author":"A Newson","year":"2010","unstructured":"Newson A, Leonard S (2010) Childhood genetic testing for familial cancer: does adoption make a difference? Familial Cancer 9:37\u201342","journal-title":"Familial Cancer"},{"key":"371_CR144","first-page":"57","volume":"9","author":"AJ Newson","year":"2016","unstructured":"Newson AJ, Leonard SJ, Hall A, Gaff CL (2016) Known unknowns: building an ethics of uncertainty into genomic medicine. BMC Med Genet 9:57","journal-title":"BMC Med Genet"},{"key":"371_CR145","volume-title":"Non-invasive prenatal testing: ethical issues","author":"Nuffield Council on Bioethics","year":"2017","unstructured":"Nuffield Council on Bioethics (2017) Non-invasive prenatal testing: ethical issues. Nuffield Council on Bioethics, London"},{"key":"371_CR146","first-page":"3","volume-title":"Prenatal testing and disability rights","author":"E Parens","year":"2000","unstructured":"Parens E, Asch A (2000) The disability rights critique of prenatal genetic testing: reflections and recommendations. In: Parens E, Asch A (eds) Prenatal testing and disability rights. Georgetown University Press, Washington DC, pp 3\u201343"},{"key":"371_CR147","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9781139107792","volume-title":"Ethical problems and genetics practice","author":"M Parker","year":"2012","unstructured":"Parker M (2012) Ethical problems and genetics practice. Cambridge University Press, Cambridge"},{"issue":"1","key":"371_CR148","first-page":"17","volume":"3","author":"EP Parsons","year":"2000","unstructured":"Parsons EP, Clarke AJ, Hood K, Bradley DM (2000) Feasibility of a change in service delivery: the case of optional newborn screening for Duchenne muscular dystrophy. Community Genet 3(1):17\u201323","journal-title":"Community Genet"},{"key":"371_CR149","doi-asserted-by":"publisher","first-page":"F91","DOI":"10.1136\/fn.86.2.F91","volume":"86","author":"EP Parsons","year":"2002","unstructured":"Parsons EP, Clarke AJ, Hood K, Lycett E, Bradley DM (2002) Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch Dis Child Fetal Neonatal Ed 86:F91\u2013F95","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"371_CR150","doi-asserted-by":"crossref","unstructured":"Peterson M. 2012. Disability advocacy and reproductive choice: engaging with the expressivist objection. J Genet Couns 21: 13\u20136","DOI":"10.1007\/s10897-011-9412-7"},{"key":"371_CR151","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1038\/gim.0b013e31823331d0","volume":"14","author":"M Petros","year":"2012","unstructured":"Petros M (2012) Revisting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening? Genet Med 14:129\u2013134","journal-title":"Genet Med"},{"key":"371_CR152","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1080\/14636770216003","volume":"21","author":"A Pilnick","year":"2002","unstructured":"Pilnick A (2002) What \u2018most people\u2019 do: exploring the ethical implications of genetic counselling. New Genet Soc 21:339\u2013350","journal-title":"New Genet Soc"},{"issue":"15","key":"371_CR153","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1056\/NEJMp1107564","volume":"365","author":"RE Pyeritz","year":"2011","unstructured":"Pyeritz RE (2011) The coming explosion in genetic testing--is there a duty to recontact? N Engl J Med 365(15):1367\u20131369","journal-title":"N Engl J Med"},{"key":"371_CR154","volume-title":"Testing women, testing the fetus","author":"R Rapp","year":"2000","unstructured":"Rapp R (2000) Testing women, testing the fetus. Routledge, London"},{"issue":"1","key":"371_CR155","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1080\/15265161.2016.1251651","volume":"17","author":"V Ravitsky","year":"2017","unstructured":"Ravitsky V, Rousseau F, Laberge A-M (2017) Providing unrestricted access to prenatal testing does not translate to enhanced autonomy. Am J Bioeth 17(1):39\u201341","journal-title":"Am J Bioeth"},{"key":"371_CR156","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1016\/j.socscimed.2008.07.011","volume":"67","author":"AE Raz","year":"2008","unstructured":"Raz AE, Vizner Y (2008) Carrier matching and collective socialization in community genetics: dor Yeshorim and the reinforcement of stigma. Soc Sci Med 67:1361\u20131369","journal-title":"Soc Sci Med"},{"issue":"1","key":"371_CR157","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1080\/15265161.2016.1251662","volume":"17","author":"R Rhodes","year":"2017","unstructured":"Rhodes R (2017) Resisting paternalism in prenatal whole-genome sequencing. Am J Bioeth 17(1):35\u201337","journal-title":"Am J Bioeth"},{"key":"371_CR158","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1111\/j.1399-0004.2006.00696.x","volume":"70","author":"FH Richards","year":"2006","unstructured":"Richards FH (2006) Maturity of judgement in decision-making for predictive testing for nontreatable adult-onset neurogenetic conditions: a case against predictive testing of minors. Clin Genet 70:396\u2013401","journal-title":"Clin Genet"},{"key":"371_CR159","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, on behalf of the ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"371_CR160","doi-asserted-by":"publisher","first-page":"914","DOI":"10.1002\/ajmg.a.31165","volume":"140A","author":"LF Ross","year":"2006","unstructured":"Ross LF (2006) Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med Genet 140A:914\u2013922","journal-title":"Am J Med Genet"},{"key":"371_CR161","doi-asserted-by":"crossref","unstructured":"Ross LF (2013) Predictive genetic testing of children and the role of the best interest standard. J Law Med Ethics Winter 2013:899\u2013906","DOI":"10.1111\/jlme.12099"},{"key":"371_CR162","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/j.pediatrneurol.2017.08.012","volume":"77","author":"LF Ross","year":"2017","unstructured":"Ross LF, Clarke AJ (2017) A historical and current review of newborn screening for neuromuscular disorders from around the world: lessons for the United States. Pediatr Neurol 77:12\u201322","journal-title":"Pediatr Neurol"},{"issue":"3","key":"371_CR163","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1038\/gim.2012.176","volume":"15","author":"LF Ross","year":"2013","unstructured":"Ross LF, Saal HM, David KL, Anderson RR, American Academy of Pediatrics; American College of Medical Genetics and Genomics (2013) Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med 15(3):234\u2013245 See also the AAP\/ACMG Report, \u2018Ethical and Policy Issues in Genetic Testing and Screening of Children\u2019. 2013. Pediatrics 131; 620","journal-title":"Genet Med"},{"key":"371_CR164","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1007\/s10897-007-9097-0","volume":"16","author":"S Rozario","year":"2007","unstructured":"Rozario S (2007) Growing up and living with neurofibromatosis1 (NF1): A British Bangladeshi Case-study. J Genet Couns 16:551\u2013560","journal-title":"J Genet Couns"},{"key":"371_CR165","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/s10897-005-1498-3","volume":"14","author":"S Sarangi","year":"2005","unstructured":"Sarangi S, Bennert K, Howell L, Clarke A, Harper P, Gray J (2005) (Mis) alignments in counselling for HD predictive testing: clients\u2019 responses to reflective frames. J Gen Couns 14:29\u201342 [follows JGC 2004, 13: 135\u201355]","journal-title":"J Gen Couns"},{"key":"371_CR166","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1111\/j.1467-8519.2008.00687.x","volume":"23","author":"J Savulescu","year":"2009","unstructured":"Savulescu J, Kahne G (2009) The moral obligation to create children with the best chance of the best life. Bioethics 23:274\u2013290","journal-title":"Bioethics"},{"key":"371_CR167","doi-asserted-by":"publisher","DOI":"10.4324\/9781315170749","volume-title":"The fetus as a patient\u2014a contested concept and its normative implications","author":"D Schmitz","year":"2018","unstructured":"Schmitz D, Clarke A, Dondorp W (2018) The fetus as a patient\u2014a contested concept and its normative implications. Routledge, London"},{"issue":"3","key":"371_CR168","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1002\/ajmg.a.35213","volume":"158A","author":"M Schoonen","year":"2012","unstructured":"Schoonen M, van der Zee B, Wildschut H, de Beaufort I, de Wert G, de Koning H, Essink-Bot ML, Steegers E (2012) Informing on prenatal screening for down syndrome prior to conception. An empirical and ethical perspective. Am J Med Genet A 158A(3):485\u2013497","journal-title":"Am J Med Genet A"},{"key":"371_CR169","volume-title":"Disability bioethics. moral bodies, moral difference","author":"JL Scully","year":"2008","unstructured":"Scully JL (2008) Disability bioethics. moral bodies, moral difference. Rowman & Littlefield, Plymouth"},{"key":"371_CR170","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1111\/j.1467-8519.2007.00546.x","volume":"21","author":"JL Scully","year":"2007","unstructured":"Scully JL, Porz R, Rehman-Sutter C (2007) You don\u2019t make genetic test decisions from one day to the next\u2019\u2014using time to preserve moral space. Bioethics 21:208\u2013217","journal-title":"Bioethics"},{"key":"371_CR171","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1080\/09687599826452","volume":"13","author":"T Shakespeare","year":"1998","unstructured":"Shakespeare T (1998) Choices and rights: eugenics, genetics and disability equality. Disabil Soc 13:665\u2013681","journal-title":"Disabil Soc"},{"issue":"9","key":"371_CR172","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1111\/j.1467-8519.2011.01883.x","volume":"26","author":"A Shaw","year":"2012","unstructured":"Shaw A (2012) They say Islam has a solution for everything, so why are there no guidelines for this?' Ethical dilemmas associated with the births and deaths of infants with fatal abnormalities from a small sample of Pakistani Muslim couples in Britain. Bioethics 26(9):485\u2013492","journal-title":"Bioethics"},{"issue":"4","key":"371_CR173","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1007\/s10897-008-9156-1","volume":"17","author":"A Shaw","year":"2008","unstructured":"Shaw A, Hurst JA (2008) What is this genetics, anyway? Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services. J Genet Couns 17(4):373\u2013383","journal-title":"J Genet Couns"},{"key":"371_CR174","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1080\/13557850802071140","volume":"14","author":"A Shaw","year":"2009","unstructured":"Shaw A, Hurst J (2009) 'I don't see any point in telling them': attitudes to sharing genetic information in the family and carrier testing of relatives among British Pakistani adults referred to a genetics clinic. Ethn Health 14:205\u2013224","journal-title":"Ethn Health"},{"issue":"1","key":"371_CR175","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1558\/cam.v11i1.17324","volume":"11","author":"H Shipman","year":"2014","unstructured":"Shipman H, Clarke AJ, Sarangi S (2014) Accounts of consent: orienting to self\u2013other relations regarding motivations to participate in cancer bio-banking. Commun Med 11(1):69\u201384","journal-title":"Commun Med"},{"key":"371_CR176","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1136\/adc.2009.166017","volume":"94","author":"BG Skotko","year":"2009","unstructured":"Skotko BG (2009) With new prenatal testing, will babies with Down syndrome disappear? Arch Dis Child 94:823\u2013826","journal-title":"Arch Dis Child"},{"key":"371_CR177","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<49::AID-AJMG10>3.0.CO;2-3","volume":"90","author":"S Sobel","year":"2000","unstructured":"Sobel S, Cowan DB (2000) Impact of genetic testing for Huntington disease on the family system. Am J Med Genet 90:49\u201359","journal-title":"Am J Med Genet"},{"key":"371_CR178","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/ajmg.a.33519","volume":"152A","author":"KJ Swoboda","year":"2010","unstructured":"Swoboda KJ (2010) Seize the day: newborn screening for SMA. Am J Med Genet A 152A:1605\u20131607","journal-title":"Am J Med Genet A"},{"issue":"12","key":"371_CR179","doi-asserted-by":"publisher","first-page":"2916","DOI":"10.1002\/ajmg.a.34357","volume":"155A","author":"HK Tabor","year":"2011","unstructured":"Tabor HK, Berkman BE, Hull SC, Bamshad MJ (2011) Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet A 155A(12):2916\u20132924","journal-title":"Am J Med Genet A"},{"key":"371_CR180","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1038\/ejhg.2008.142","volume":"17","author":"RJ Tassicker","year":"2009","unstructured":"Tassicker RJ, Teltscher B, Trembath MK et al (2009) Problems assessing uptake of Huntington disease predictive testing and a proposed solution. Eur J Hum Genet 17:66\u201370","journal-title":"Eur J Hum Genet"},{"key":"371_CR181","doi-asserted-by":"publisher","first-page":"e010002","DOI":"10.1136\/bmjopen-2015-010002","volume":"6","author":"S Taylor-Phillips","year":"2016","unstructured":"Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman O, Madan J, Clarke AJ, Quenby S, Clarke AE (2016) Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open 6:e010002","journal-title":"BMJ Open"},{"key":"371_CR182","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1136\/jme.2010.036152","volume":"36","author":"P Thiele","year":"2010","unstructured":"Thiele P (2010) He was my son, not a dying baby. J Med Ethics 36:646\u2013647","journal-title":"J Med Ethics"},{"issue":"1","key":"371_CR184","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1177\/0306312714559323","volume":"45","author":"S Timmermans","year":"2015","unstructured":"Timmermans S (2015) Trust in standards: transitioning clinical exome sequencing from bench to bedside. Soc Stud Sci 45(1):77\u201399","journal-title":"Soc Stud Sci"},{"issue":"4","key":"371_CR185","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1177\/0022146510386794","volume":"51","author":"S Timmermans","year":"2010","unstructured":"Timmermans S, Buchbinder M (2010) Patients-in-waiting: living between sickness and health in the genomics era. J Health Soc Behav 51(4):408\u2013423","journal-title":"J Health Soc Behav"},{"issue":"2","key":"371_CR186","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1111\/j.1467-9566.2011.01398.x","volume":"34","author":"S Timmermans","year":"2012","unstructured":"Timmermans S, Buchbinder M (2012) Expanded newborn screening: articulating the ontology of diseases with bridging work in the clinic. Sociol Health Illn 34(2):208\u2013220","journal-title":"Sociol Health Illn"},{"issue":"7696","key":"371_CR187","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1016\/S0140-6736(71)92410-X","volume":"297","author":"J Tudor Hart","year":"1971","unstructured":"Tudor Hart J (1971) The inverse care law. Lancet 297(7696):405\u2013412","journal-title":"Lancet"},{"issue":"2","key":"371_CR188","doi-asserted-by":"publisher","first-page":"E116","DOI":"10.9778\/cmajo.20150141","volume":"4","author":"ML Urquia","year":"2016","unstructured":"Urquia ML, Ray JG, Wanigaratne S, Moineddin R, O\u2019Campo PJ (2016) Variations in male\u2013female infant ratios among births to Canadian- and Indian-born mothers, 1990\u20132011: a population-based register study. CMAJ Open 4(2):E116\u2013E123","journal-title":"CMAJ Open"},{"key":"371_CR189","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1016\/S0738-3991(98)00137-2","volume":"37","author":"D Berkel van","year":"1999","unstructured":"van Berkel D, van der Weele C (1999) Norms and prenorms on prenatal diagnosis: new ways to deal with morality in counseling. Patient Educ Couns 37:153\u2013163","journal-title":"Patient Educ Couns"},{"key":"371_CR190","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.pec.2009.05.014","volume":"78","author":"Heuvel van den","year":"2010","unstructured":"van den Heuvel et al (2010) Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? Patient Educ Couns 78:24\u201328","journal-title":"Patient Educ Couns"},{"key":"371_CR191","first-page":"659","volume":"58","author":"D Vears","year":"2015","unstructured":"Vears D, Metcalfe S (2015) Carrier testing in children and adolescents. EJMG 58:659\u2013667","journal-title":"EJMG"},{"key":"371_CR192","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1016\/S1470-2045(11)70119-X","volume":"12","author":"A Villani","year":"2011","unstructured":"Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D (2011) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol 12:559\u2013567","journal-title":"Lancet Oncol"},{"key":"371_CR193","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1097\/GIM.0b013e318204cfed","volume":"13","author":"J Vos","year":"2011","unstructured":"Vos J, Jansen AM, Menko F, van Asperen CJ, Stiggelbout AM, Tibben A (2011) Family communication matters: the impact of telling relatives about unclassified variants and uninformative DNA-test results. Genet Med 13:333\u2013341","journal-title":"Genet Med"},{"key":"371_CR194","volume-title":"A constant burden. The reconstitution of family life","author":"M Voysey","year":"1975","unstructured":"Voysey M (1975) A constant burden. The reconstitution of family life. Routledge & Kegan Paul, London"},{"key":"371_CR195","doi-asserted-by":"publisher","first-page":"1760","DOI":"10.1016\/j.socscimed.2010.03.053","volume":"72","author":"K Weiner","year":"2011","unstructured":"Weiner K (2011) Exploring genetic responsibility for the self, family and kin in the case of hereditary raised cholesterol. Soc Sci Med 72:1760\u20131767","journal-title":"Soc Sci Med"},{"key":"371_CR196","first-page":"113","volume-title":"Genetic counselling: practice and principles","author":"M White-van Mourik","year":"1994","unstructured":"White-van Mourik M (1994) Termination of a second-trimester pregnancy for fetal abnormality. Psychosocial aspects. Chapter 5. In: Clarke A (ed) Genetic counselling: practice and principles. Routledge, London, pp 113\u2013132"},{"key":"371_CR197","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1002\/pd.1970120308","volume":"12","author":"MCA White-van Mourik","year":"1992","unstructured":"White-van Mourik MCA, Connor JM, Ferguson-Smith MA (1992) The psychosocial sequelae of a second-trimester termination of pregnancy for fetal abnormality. Prenat Diagn 12:189\u2013204","journal-title":"Prenat Diagn"},{"key":"371_CR198","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1136\/jme.2010.040212","volume":"36","author":"DJC Wilkinson","year":"2010","unstructured":"Wilkinson DJC (2010) Antenatal diagnosis of trisomy 18, harm and parental choice. J Med Ethics 36:644\u2013645","journal-title":"J Med Ethics"},{"key":"371_CR199","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1016\/S0277-9536(01)00032-6","volume":"54","author":"C Williams","year":"2002","unstructured":"Williams C et al (2002) Is non-directiveness possible within the context of antenatal screening and testing? Soc Sci Med 54:339\u2013347","journal-title":"Soc Sci Med"},{"key":"371_CR200","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/BF01423845","volume":"4","author":"G Wolff","year":"1995","unstructured":"Wolff G, Jung C (1995) Nondirectiveness and genetic counseling. J Gen Couns 4:3\u201325","journal-title":"J Gen Couns"},{"key":"371_CR201","doi-asserted-by":"publisher","unstructured":"Woodin SL (2012) Disability: western theories. Encyclopedia of Life Sciences (eLS): Wiley, Chichester. https:\/\/doi.org\/10.1002\/9780470015902.a0005213.pub2","DOI":"10.1002\/9780470015902.a0005213.pub2"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12687-018-0371-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-018-0371-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-018-0371-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T03:33:51Z","timestamp":1751686431000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12687-018-0371-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,14]]},"references-count":200,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["371"],"URL":"https:\/\/doi.org\/10.1007\/s12687-018-0371-7","relation":{},"ISSN":["1868-310X","1868-6001"],"issn-type":[{"value":"1868-310X","type":"print"},{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,14]]},"assertion":[{"value":"30 December 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 May 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 June 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}