{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:11:50Z","timestamp":1778544710890,"version":"3.51.4"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004586","name":"Carlos Chagas Filho Foundation for Research Support of Rio de Janeiro State","doi-asserted-by":"publisher","award":["210.142\/2016"],"award-info":[{"award-number":["210.142\/2016"]}],"id":[{"id":"10.13039\/501100004586","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["160035\/2012-0"],"award-info":[{"award-number":["160035\/2012-0"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["403770\/2016-5"],"award-info":[{"award-number":["403770\/2016-5"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Social Science &amp; Medicine"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1016\/j.socscimed.2024.117380","type":"journal-article","created":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T16:02:06Z","timestamp":1731945726000},"page":"117380","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Difficult decisions and possible choices: Rare diseases, genetic inheritance and reproduction of the family"],"prefix":"10.1016","volume":"363","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0343-6259","authenticated-orcid":false,"given":"Waleska","family":"Aureliano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.socscimed.2024.117380_bib1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1057\/sth.2009.22","article-title":"The practical ethics of genetic responsibility: non-disclosure and the autonomy of affect","volume":"9","author":"Arribas-Ayllon","year":"2011","journal-title":"Soc. Theor. Health"},{"issue":"8","key":"10.1016\/j.socscimed.2024.117380_bib37","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1111\/1467-9566.12034","article-title":"Kinscapes, timescapes & genescapes: families living with genetic risk","volume":"35","author":"Atikinson","year":"2013","journal-title":"Sociol. Health Illness"},{"issue":"1","key":"10.1016\/j.socscimed.2024.117380_bib3","first-page":"109","article-title":"Health and the Value of Inheritance: the meanings surrounding a rare genetic disease","volume":"12","author":"Aureliano","year":"2015","journal-title":"Vibrant"},{"key":"10.1016\/j.socscimed.2024.117380_bib4","series-title":"Critical Medical Anthropology: Perspectives in and from Latin America","first-page":"248","article-title":"Judicialisation and the politics of rare disease in Brazil: rethinking activism and inequalities","author":"Aureliano","year":"2020"},{"issue":"1","key":"10.1016\/j.socscimed.2024.117380_bib5","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1111\/1467-9566.12048","article-title":"Knowledge is power? The role of experiential knowledge in genetically risky reproductive decisions","volume":"36","author":"Boardman","year":"2014","journal-title":"Sociol. Health Illness"},{"issue":"s.l","key":"10.1016\/j.socscimed.2024.117380_bib6","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.socscimed.2014.02.025","article-title":"The expressivist objection to prenatal testing: the experiences of families living with genetic disease","volume":"107","author":"Boardman","year":"2014","journal-title":"Soc. Sci. Med."},{"key":"10.1016\/j.socscimed.2024.117380_bib7","article-title":"Medical genetics workforce in Brazil: practitioners, services, and disease distribution","author":"Bonilla","year":"2021","journal-title":"MedRxiv - The preprint server for health sciences"},{"key":"10.1016\/j.socscimed.2024.117380_bib8","year":"2014","journal-title":"Portaria n\u00ba 199"},{"issue":"66","key":"10.1016\/j.socscimed.2024.117380_bib9","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1590\/1807-57622017.0857","article-title":"\u201cI never expected this, it was a big shock\u201d: conception, pregnancy and birth in times of zika through the eyes of women in Recife, PE, Brazil","volume":"22","author":"Carneiro","year":"2018","journal-title":"Interface"},{"issue":"2","key":"10.1016\/j.socscimed.2024.117380_bib10","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1086\/320004","article-title":"The kin in the gene: the medicalization of family and kinship in American society","volume":"42","author":"Finkler","year":"2001","journal-title":"Curr. Anthropol."},{"key":"10.1016\/j.socscimed.2024.117380_bib11","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1590\/1980-5497201700050005","article-title":"Leading causes of child mortality in Brazil, in 1990 and 2015: estimates from the Global Burden of Disease study","volume":"20","author":"Fran\u00e7a","year":"2017","journal-title":"Rev Bras Epidemiologia"},{"issue":"1","key":"10.1016\/j.socscimed.2024.117380_bib12","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1080\/13648470.2017.1381230","article-title":"Inclusion and exclusion in the globalisation of genomics; the case of rare genetic disease in Brazil","volume":"25","author":"Gibbon","year":"2018","journal-title":"Anthropol. Med."},{"key":"10.1016\/j.socscimed.2024.117380_bib13","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s12687-012-0096-y","article-title":"Genetic services and testing in Brazil","volume":"4","author":"Horovitz","year":"2013","journal-title":"J Community Genet"},{"key":"10.1016\/j.socscimed.2024.117380_bib14","series-title":"Pesquisa nacional de sa\u00fade: informa\u00e7\u00f5es sobre domic\u00edlios. acesso e utiliza\u00e7\u00e3o dos servi\u00e7os de sa\u00fade: Brasil, grandes regi\u00f5es e unidades da federa\u00e7\u00e3o","year":"2020"},{"issue":"10","key":"10.1016\/j.socscimed.2024.117380_bib15","doi-asserted-by":"crossref","first-page":"3637","DOI":"10.1590\/1413-812320182410.01612019","article-title":"From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil","volume":"24","author":"Iriart","year":"2019","journal-title":"Ci\u00eancia Sa\u00fade Coletiva"},{"issue":"1","key":"10.1016\/j.socscimed.2024.117380_bib16","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1467-9566.2008.01110.x","article-title":"Choosing not to choose: reproductive responses of parents of children with genetic conditions or impairments","volume":"31","author":"Kelly","year":"2009","journal-title":"Sociol. Health Illness"},{"issue":"1","key":"10.1016\/j.socscimed.2024.117380_bib17","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1080\/13648470301269","article-title":"Predictive genetic testing and the making of the pre-symptomatic person: prognostic moralities amongst Huntington\u2019s-affected families","volume":"10","author":"Konrad","year":"2003","journal-title":"Anthropol. Med."},{"key":"10.1016\/j.socscimed.2024.117380_bib18","series-title":"Imperfect Pregnancies: a History of Birth Defects and Prenatal Diagnosis","author":"L\u00f6wy","year":"2017"},{"key":"10.1016\/j.socscimed.2024.117380_bib19","series-title":"Tangled Diagnoses: Prenatal Testing, Women and Risk","author":"L\u00f6wy","year":"2018"},{"issue":"10","key":"10.1016\/j.socscimed.2024.117380_bib20","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1590\/1413-812320182410.19102019","article-title":"How diseases became \u201cgenetic\u201d","volume":"24","author":"L\u00f6wy","year":"2019","journal-title":"Ci\u00eancia Sa\u00fade Coletiva"},{"key":"10.1016\/j.socscimed.2024.117380_bib21","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1146\/annurev-lawsocsci-102612-134037","article-title":"Reproductive justice","volume":"9","author":"Luna","year":"2013","journal-title":"Annu. Rev. Law Soc. Sci."},{"key":"10.1016\/j.socscimed.2024.117380_bib35","series-title":"Risk","author":"Lupton","year":"1999"},{"key":"10.1016\/j.socscimed.2024.117380_bib22","series-title":"A filhas de Muu: as implica\u00e7\u00f5es psicossociais do diagn\u00f3stico pr\u00e9-natal na vida de mulheres gestantes","author":"Marinho","year":"2023"},{"key":"10.1016\/j.socscimed.2024.117380_bib23","first-page":"95","article-title":"Clinical genetics in developing countries: the case of Brazil","volume":"7","author":"Marques-De-Faria","year":"2004","journal-title":"Community Genet."},{"issue":"Suppl. 1","key":"10.1016\/j.socscimed.2024.117380_bib24","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1590\/1807-57622016.0211","article-title":"Qualification and provision of physicians in the context of the national policy on comprehensive care of people with rare diseases in the Brazilian national health system (SUS)","volume":"21","author":"Melo","year":"2017","journal-title":"Interface"},{"key":"10.1016\/j.socscimed.2024.117380_bib25","series-title":"Fam\u00edlia, emo\u00e7\u00f5es e biosocialidade: a mobiliza\u00e7\u00e3o de pessoas com uma doen\u00e7a rara no Rio Grande do Norte - a s\u00edndrome de Berardinelli","author":"N\u00f3brega","year":"2020"},{"issue":"9779","key":"10.1016\/j.socscimed.2024.117380_bib26","doi-asserted-by":"crossref","first-page":"1778","DOI":"10.1016\/S0140-6736(11)60054-8","article-title":"The Brazilian health system: history, advances, and challenges","volume":"377","author":"Paim","year":"2011","journal-title":"Lancet"},{"key":"10.1016\/j.socscimed.2024.117380_bib27","series-title":"\u201cGente da Cadasil\u201d: fam\u00edlias com hist\u00f3rico de uma doen\u00e7a gen\u00e9tica rara e a experi\u00eancia do diagn\u00f3stico","author":"Pereira","year":"2019"},{"issue":"3","key":"10.1016\/j.socscimed.2024.117380_bib28","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1590\/S1415-47571999000300003","article-title":"Genetic counseling follow-up: a restropective study with a quantitative approach","volume":"22","author":"Pina-Neto","year":"1999","journal-title":"Genetic and Molecular Biology"},{"issue":"2","key":"10.1016\/j.socscimed.2024.117380_bib29","doi-asserted-by":"crossref","first-page":"42","DOI":"10.2979\/meridians.2010.10.2.42","article-title":"What is reproductive justice? How women of color activists are redefining the pro-choice paradigm","volume":"10","author":"Price","year":"2010","journal-title":"Meridians Fem Race Transnat"},{"key":"10.1016\/j.socscimed.2024.117380_bib30","series-title":"Testing Women, Testing the Fetus: the Social Impact of Amniocentesis in America","author":"Rapp","year":"1999"},{"key":"10.1016\/j.socscimed.2024.117380_bib31","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1146\/annurev-genom-090314-024930","article-title":"Eugenics and involuntary sterilization: 1907\u20132015","volume":"16","author":"Reilly","year":"2015","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.socscimed.2024.117380_bib32","series-title":"The Politics of Life Itself: Biomedicine, Power and Subjectivity in the Twenty-First Century","author":"Rose","year":"2007"},{"key":"10.1016\/j.socscimed.2024.117380_bib34","unstructured":"Ministry of Health (Minist\u00e9rio da Sa\u00fade, n\/d). https:\/\/www.gov.br\/saude\/pt-br\/composicao\/sgtes\/educomunicacao-em-doencas-raras\/centros-habilitados-para-tratamento-de-doencas-raras\/informacoescentrosdereferencia.pdf. (accessed 20 November 2022)."}],"container-title":["Social Science &amp; Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0277953624008347?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0277953624008347?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T23:31:27Z","timestamp":1778542287000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0277953624008347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":34,"alternative-id":["S0277953624008347"],"URL":"https:\/\/doi.org\/10.1016\/j.socscimed.2024.117380","relation":{},"ISSN":["0277-9536"],"issn-type":[{"value":"0277-9536","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Difficult decisions and possible choices: Rare diseases, genetic inheritance and reproduction of the family","name":"articletitle","label":"Article Title"},{"value":"Social Science & Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.socscimed.2024.117380","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"117380"}}