The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
Q3
- Autores:
-
Germain, Dominique P.
Moiseev, Sergey
Suárez-Obando, F.
Al Ismaili, Faisal
Al Khawaja, Huda
Altarescu, Gheona
Barreto, Fellype C.
Haddoum, Farid
Hadipour, Fatemeh
Maksimova, Irina
Kramis, Mirelle
Nampoothiri, Sheela
Ngoc Nguyen, Khanh
Niu, Dau-Ming
Politei, Juan
Ro, Long-Sun
Vu Chi, Dung
Chen, Nan
Kutsev, Sergey
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2021
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/54850
- Acceso en línea:
- https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1666
http://hdl.handle.net/10554/54850
https://doi.org/10.1002/mgg3.1666
- Palabra clave:
- At-risk populations screening
Cascade genotyping
Early diagnosis
Fabry disease
Family genetic testing
Pedigree drawing
Rare disease
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease |
| title |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease |
| spellingShingle |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease At-risk populations screening Cascade genotyping Early diagnosis Fabry disease Family genetic testing Pedigree drawing Rare disease |
| title_short |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease |
| title_full |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease |
| title_fullStr |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease |
| title_full_unstemmed |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease |
| title_sort |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease |
| dc.creator.fl_str_mv |
Germain, Dominique P. Moiseev, Sergey Suárez-Obando, F. Al Ismaili, Faisal Al Khawaja, Huda Altarescu, Gheona Barreto, Fellype C. Haddoum, Farid Hadipour, Fatemeh Maksimova, Irina Kramis, Mirelle Nampoothiri, Sheela Ngoc Nguyen, Khanh Niu, Dau-Ming Politei, Juan Ro, Long-Sun Vu Chi, Dung Chen, Nan Kutsev, Sergey |
| dc.contributor.author.none.fl_str_mv |
Germain, Dominique P. Moiseev, Sergey Suárez-Obando, F. Al Ismaili, Faisal Al Khawaja, Huda Altarescu, Gheona Barreto, Fellype C. Haddoum, Farid Hadipour, Fatemeh Maksimova, Irina Kramis, Mirelle Nampoothiri, Sheela Ngoc Nguyen, Khanh Niu, Dau-Ming Politei, Juan Ro, Long-Sun Vu Chi, Dung Chen, Nan Kutsev, Sergey |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Suárez-Obando, F. |
| dc.subject.keyword.spa.fl_str_mv |
At-risk populations screening Cascade genotyping Early diagnosis Fabry disease Family genetic testing Pedigree drawing Rare disease |
| topic |
At-risk populations screening Cascade genotyping Early diagnosis Fabry disease Family genetic testing Pedigree drawing Rare disease |
| description |
Q3 |
| publishDate |
2021 |
| dc.date.accessioned.none.fl_str_mv |
2021-07-14T03:37:40Z |
| dc.date.available.none.fl_str_mv |
2021-07-14T03:37:40Z |
| dc.date.created.none.fl_str_mv |
2021-04-09 |
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Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1666 |
| dc.identifier.issn.spa.fl_str_mv |
2324-9269 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/54850 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1002/mgg3.1666 |
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instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
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https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1666 http://hdl.handle.net/10554/54850 https://doi.org/10.1002/mgg3.1666 |
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2324-9269 instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
1 |
| dc.relation.citationendpage.spa.fl_str_mv |
16 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Molecular genetics & genomic medicine |
| dc.relation.citationvolume.none.fl_str_mv |
9 |
| dc.relation.citationissue.none.fl_str_mv |
5 |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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PDF |
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2001-2020 |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Germain, Dominique P.Moiseev, SergeySuárez-Obando, F.Al Ismaili, FaisalAl Khawaja, HudaAltarescu, GheonaBarreto, Fellype C.Haddoum, FaridHadipour, FatemehMaksimova, IrinaKramis, MirelleNampoothiri, SheelaNgoc Nguyen, KhanhNiu, Dau-MingPolitei, JuanRo, Long-SunVu Chi, DungChen, NanKutsev, SergeyPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaSuárez-Obando, F.2001-20202021-07-14T03:37:40Z2021-07-14T03:37:40Z2021-04-09https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.16662324-9269http://hdl.handle.net/10554/54850https://doi.org/10.1002/mgg3.1666instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengThe benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry diseaseArtículo de revistahttp://purl.org/coar/resource_type/c_2df8fbb1Q3Q3Pacientes con Enfermedad de FabryBackground: Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non-specificity of early symptoms. Newborn screening and screening of at-risk 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. Methods: We conducted a literature search to identify all published data on family genetic testing for Fabry disease, and discussed these data, experts’ own experiences with family genetic testing, and the barriers to this type of screening that are present in their respective countries. Results: 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. Conclusion: 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.https://orcid.org/0000-0001-6336-5347Revista Internacional - IndexadaA2At-risk populations screeningCascade genotypingEarly diagnosisFabry diseaseFamily genetic testingPedigree drawingRare disease116Molecular genetics & genomic medicine95ORIGINALmgg3.1666.pdfmgg3.1666.pdfArtículoapplication/pdf1013190http://repository.javeriana.edu.co/bitstream/10554/54850/1/mgg3.1666.pdf617adb2ba30376f8e5f825c0c694c6fbMD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/54850/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILmgg3.1666.pdf.jpgmgg3.1666.pdf.jpgIM Thumbnailimage/jpeg9295http://repository.javeriana.edu.co/bitstream/10554/54850/3/mgg3.1666.pdf.jpg57bf2eabde00bbcdac342ac84fdef02fMD53open access10554/54850oai:repository.javeriana.edu.co:10554/548502023-03-10 18:11:34.098Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |