{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:05:39Z","timestamp":1791993939294,"version":"4.4.0"},"reference-count":78,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T00:00:00Z","timestamp":1617926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease\u2010specific therapies when available. Fabry disease, an X\u2010linked lysosomal storage disorder caused by pathogenic variants in\n                      <jats:italic>GLA<\/jats:italic>\n                      , can lead to end\u2010stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non\u2010specificity of early symptoms. Newborn screening and screening of at\u2010risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease. Subsequent cascade genotyping of family members may disclose a greater number of affected individuals, often at younger age than they would have been diagnosed otherwise.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a literature search to identify all published data on family genetic testing for Fabry disease, and discussed these data, experts\u2019 own experiences with family genetic testing, and the barriers to this type of screening that are present in their respective countries.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>There are potential barriers that make implementation of family genetic testing challenging in some countries. These include associated costs and low awareness of its importance, and cultural and societal issues. Regionally, there are barriers associated with population educational levels, national geography and infrastructures, and a lack of medical geneticists.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1666","type":"journal-article","created":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T09:44:06Z","timestamp":1617961446000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["The benefits and challenges of family genetic testing in rare genetic diseases\u2014lessons from Fabry disease"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8355-007X","authenticated-orcid":false,"given":"Dominique P.","family":"Germain","sequence":"first","affiliation":[{"name":"French Referral Center for Fabry disease Division of Medical Genetics University of Versailles Montigny France"},{"name":"First Faculty of Medicine Charles University Prague Czech Republic"},{"name":"Faculty of Medicine University of Puthisastra Phnom Penh Cambodia"},{"name":"MetabERN Center for Rare Diseases APHP \u2013 Paris Saclay University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Moiseev","sequence":"additional","affiliation":[{"name":"Tareev Clinic of Internal Diseases Sechenov First Moscow State Medical University Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Su\u00e1rez\u2010Obando","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Humana Facultad de Medicina Pontificia Universidad Javeriana, and Servicio de Gen\u00e9tica, Hospital Universitario San Ignacio Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faisal","family":"Al Ismaili","sequence":"additional","affiliation":[{"name":"Nephrology Department The Royal Hospital Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda","family":"Al Khawaja","sequence":"additional","affiliation":[{"name":"MCH Hospital Al\u2010Hassa Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheona","family":"Altarescu","sequence":"additional","affiliation":[{"name":"Genetic Unit Shaare Zedek Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fellype C.","family":"Barreto","sequence":"additional","affiliation":[{"name":"Service of Nephrology Department of Internal Medicine Federal University of Paran\u00e1 Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farid","family":"Haddoum","sequence":"additional","affiliation":[{"name":"Centre Hospitalo\u2010Universitaire Mustapha Algiers Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Hadipour","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Atieh Hospital Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Maksimova","sequence":"additional","affiliation":[{"name":"Sanofi Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirelle","family":"Kramis","sequence":"additional","affiliation":[{"name":"Hospital Espa\u00f1ol M\u00e9xico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences &amp; 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