ReviewMolecular genetics & genomic medicine2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Review in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Phenotypic Variability of Kidney Involvement in Fabry Disease-Lessons from a Family Study.Life (Basel, Switzerland) · 2026Article
- Knowledge, attitudes, and practices among guardians toward inherited retinal diseases: a structural equation modeling analysis.Scientific reports · 2026Article
- Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.BMC medical genomics · 2026Article
- Clinical Practice of Multidisciplinary Team-Guided Comprehensive Management for Pediatric Patients with Fabry Disease: A Single-Center Case Series.Journal of multidisciplinary healthcare · 2026Article
- Clinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series.Frontiers in pediatrics · 2026Article
- Fabry cardiomyopathy presenting as hypertrophic phenotype with left ventricular outflow tract obstruction: a case series.Frontiers in cardiovascular medicine · 2026Article
- Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.Public health genomics · 2026Article
- Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.Genetics in medicine open · 2026Article
- Newborn Screening in Fabry Disease.International journal of molecular sciences · 2025Review
- Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.Scientific reports · 2025Article
- Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences.Prenatal diagnosis · 2025Article
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
- Genetic Testing Among Breast Cancer Patients in the Eastern Region of Saudi Arabia: Single-Center Experience.Journal of epidemiology and global health · 2024Article
- Ventricular predominance in biventricular arrhythmogenic cardiomyopathy: Should new subtype criteria be recognized?Radiology case reports · 2024Article
- Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population.Molecular genetics and metabolism reports · 2024Article
- Identification of osteoporosis genes using family studies.Frontiers in endocrinology · 2024Review
- Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.BMC nephrology · 2023Review
- Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.Molecular genetics and metabolism reports · 2023Article
Corrections and comments
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Authors and funding
19 authors at 15 institutions in 15 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamily 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.
methodsWe 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.
resultsThere 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.
conclusionIn 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.