ArticleJournal of genetic counseling2002
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
Article in Journal of genetic counseling, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 4 syntheses or guidelines pooled it, 53 citations in OpenAlex.
- Fabry disease in infancy and early childhood: a systematic literature review.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Pooled it
- Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2013Guideline
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2005Guideline
- Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.JAMA internal medicine · 2018Trial
- Clinical characteristics and interdepartmental collaboration for patients with Anderson-Fabry disease in Shiga Prefecture, Japan.Molecular genetics and metabolism reports · 2025Article
- Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.Orphanet journal of rare diseases · 2022Review
- Fabry disease: where are we now?International urology and nephrology · 2020Review
- Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.Orphanet journal of rare diseases · 2015Review
- Fabry disease.Orphanet journal of rare diseases · 2010Review
- Psychological aspects of patients with Fabry disease.Journal of inherited metabolic disease · 2009Article
- Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease.Journal of genetic counseling · 2008Article
- Diagnosis of Fabry disease via analysis of family history.Journal of genetic counseling · 2008Article
- A survey of the pain experienced by males and females with Fabry disease.Pain research & management · 2006Article
- Genetic counseling throughout the life cycle.The Journal of clinical investigation · 2003Article
- Developing Standard Recommendations (Guidelines) for Genetic Counseling Practice: A Process of the National Society of Genetic Counselors.Journal of genetic counseling · 2003Article
- Editorial.Journal of genetic counseling · 2002Article
- Everything I Ever Needed to Know About Genetic Counseling Research I Learned from Attending the Jane Engelberg Memorial Fellowship Grantmanship Seminar.Journal of genetic counseling · 2002Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.