The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
Abstract Background 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 variant...
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doaj-7133386bff6342479156e20d5b14da8e2021-06-02T19:52:19ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-05-0195n/an/a10.1002/mgg3.1666The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry diseaseDominique P. Germain0Sergey Moiseev1Fernando Suárez‐Obando2Faisal Al Ismaili3Huda Al Khawaja4Gheona Altarescu5Fellype C. Barreto6Farid Haddoum7Fatemeh Hadipour8Irina Maksimova9Mirelle Kramis10Sheela Nampoothiri11Khanh Ngoc Nguyen12Dau‐Ming Niu13Juan Politei14Long‐Sun Ro15Dung Vu Chi16Nan Chen17Sergey Kutsev18French Referral Center for Fabry disease Division of Medical Genetics University of Versailles Montigny FranceTareev Clinic of Internal Diseases Sechenov First Moscow State Medical University Moscow RussiaInstituto de Genética Humana Facultad de Medicina Pontificia Universidad Javeriana, and Servicio de Genética, Hospital Universitario San Ignacio Bogotá ColombiaNephrology Department The Royal Hospital Muscat OmanMCH Hospital Al‐Hassa Saudi ArabiaGenetic Unit Shaare Zedek Medical Center Jerusalem IsraelService of Nephrology Department of Internal Medicine Federal University of Paraná Curitiba BrazilCentre Hospitalo‐Universitaire Mustapha Algiers AlgeriaMedical Genetics Department Atieh Hospital Tehran IranSanofi Moscow RussiaHospital Español México City MexicoDepartment of Pediatric Genetics Amrita Institute of Medical Sciences & Research Centre Kochi IndiaCenter for Rare Diseases and Newborn Screening Vietnam National Children's Hospital Hanoi VietnamInstitute of Clinical Medicine National Yang‐Ming University Taipei TaiwanNeurology Department, Laboratorio Neuroquímica Dr Néstor Chamoles Buenos Aires Buenos Aires ArgentinaDepartment of Neurology Chang Gung Memorial Hospital‐Linkou Medical Center Taoyuan TaiwanCenter for Rare Diseases and Newborn Screening Vietnam National Children's Hospital Hanoi VietnamDepartment of Nephrology Institute of Nephrology Ruijin Hospital The Medical School of Shanghai Jiao Tong University Shanghai ChinaResearch Centre for Medical Genetics Moscow RussiaAbstract Background 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://doi.org/10.1002/mgg3.1666at‐risk populations screeningcascade genotypingearly diagnosisFabry diseasefamily genetic testingpedigree drawing |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Dominique P. Germain Sergey Moiseev Fernando Suárez‐Obando Faisal Al Ismaili Huda Al Khawaja Gheona Altarescu Fellype C. Barreto Farid Haddoum Fatemeh Hadipour Irina Maksimova Mirelle Kramis Sheela Nampoothiri Khanh Ngoc Nguyen Dau‐Ming Niu Juan Politei Long‐Sun Ro Dung Vu Chi Nan Chen Sergey Kutsev |
spellingShingle |
Dominique P. Germain Sergey Moiseev Fernando Suárez‐Obando Faisal Al Ismaili Huda Al Khawaja Gheona Altarescu Fellype C. Barreto Farid Haddoum Fatemeh Hadipour Irina Maksimova Mirelle Kramis Sheela Nampoothiri Khanh Ngoc Nguyen Dau‐Ming Niu Juan Politei Long‐Sun Ro Dung Vu Chi Nan Chen Sergey Kutsev The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease Molecular Genetics & Genomic Medicine at‐risk populations screening cascade genotyping early diagnosis Fabry disease family genetic testing pedigree drawing |
author_facet |
Dominique P. Germain Sergey Moiseev Fernando Suárez‐Obando Faisal Al Ismaili Huda Al Khawaja Gheona Altarescu Fellype C. Barreto Farid Haddoum Fatemeh Hadipour Irina Maksimova Mirelle Kramis Sheela Nampoothiri Khanh Ngoc Nguyen Dau‐Ming Niu Juan Politei Long‐Sun Ro Dung Vu Chi Nan Chen Sergey Kutsev |
author_sort |
Dominique P. Germain |
title |
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry 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 |
benefits and challenges of family genetic testing in rare genetic diseases—lessons from fabry disease |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2021-05-01 |
description |
Abstract Background 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. |
topic |
at‐risk populations screening cascade genotyping early diagnosis Fabry disease family genetic testing pedigree drawing |
url |
https://doi.org/10.1002/mgg3.1666 |
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