ArticleAmerican journal of medical genetics. Part A2009
Fragile X screening: attitudes of genetic health professionals.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
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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
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Preconception care: promoting reproductive planning.Reproductive health · 2014Pooled it
- Prevalence and implications of fragile X premutation screening in Thailand.Scientific reports · 2024Article
- Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China.Journal of community genetics · 2024Article
- The risk of normative bias in reporting empirical research: lessons learned from prenatal screening studies about the prominence of acknowledged limitations.Theoretical medicine and bioethics · 2023Article
- Review
- Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.BMC women's health · 2022Article
- Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.Molecular genetics & genomic medicine · 2019Article
- Fragile X-Associated Disorders in Serbia: Baseline Quantitative and Qualitative Survey of Knowledge, Attitudes and Practices Among Medical Professionals.Frontiers in neuroscience · 2018Article
- Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Fragile X syndrome: a review of clinical and molecular diagnoses.Italian journal of pediatrics · 2017Review
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.Journal of community genetics · 2016Article
- Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.Journal of genetic counseling · 2016Article
- Carrier testing in children: exploration of genetic health professionals' practices in Australia.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Attitude of medical school students in China towards genetic testing and counseling issues in FXS.Journal of genetic counseling · 2013Article
- Developmental and behavioral pediatricians' attitudes toward screening for fragile X.American journal on intellectual and developmental disabilities · 2013Article
- Prenatal screening for fragile x: carriers, controversies, and counseling.Reviews in obstetrics & gynecology · 2013Article
- Caregiver opinions about fragile X population screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Although genetic health professionals (GHP) are major stakeholders in developing and implementing fragile X (FrX) testing and screening guidelines, their attitudes about FrX testing and population screening are virtually absent in the literature. A survey was conducted of physician geneticists (geneticists) and genetic counselors (GC). The survey addressed GHP's attitudes towards (1) prenatal FrX carrier screening; (2) pre- and full mutation screening of male and female newborns; (3) the single best time for FrX screening over the lifespan; and (4) their willingness to test a normally developing child with a positive family history. Surveys were completed by 30% (273/894) of eligible GHP. Attitudes of geneticists and GC were mostly indistinguishable. The single most favored screening approaches were (1) preconception screening targeted at women with a positive family history (43%); and (2) universal preconception screening (29%). While only 6% and 11% declared universal prenatal and universal newborn screening (NBS) as the ideal time respectively, 73% and 60% respectively would support such programs. GHP would design a NBS program to test male and female infants and to identify both pre- and full mutations. Over half would agree to order FrX testing on some normally developing children with a positive family history. In expanding FrX testing and screening to low risk individuals, GHP prefer preconception screening as the single best time. The majority also support prenatal screening and NBS. If NBS were to be introduced, GHP prefer screening to identify boys and girls with both pre- and full mutations.
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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.