ArticleJournal of community genetics2016
"It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.
Article in Journal of community genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis 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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.Prenatal diagnosis · 2021Pooled it
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- Levers and constraints on general practitioners offering and managing reproductive genetic carrier screening in Australian primary care: a rich graphic of the complex context.BMC medical genomics · 2026Article
- Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan.BMC genomic data · 2026Article
- Population-based FMR1 carrier screening among reproductive women.Journal of assisted reproduction and genetics · 2024Article
- Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Review
- The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening.European journal of human genetics : EJHG · 2023Article
- The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).Journal of assisted reproduction and genetics · 2023Article
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set.Journal of personalized medicine · 2022Article
- Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.BMC women's health · 2022Article
- Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.Journal of genetic counseling · 2021Article
- Fragile X population carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.Genetics in medicine : official journal of the American College of Medical Genetics · 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study aims to explore stakeholder views about offering population-based genetic carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an in-depth exploration of views and perceptions about practicalities of, and strategies for, offering carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78). The importance of raising community awareness about screening and providing appropriate support for carriers was emphasized. There was a preference for preconception carrier screening and for providing people with the opportunity to make an informed decision about screening. Primary care was highlighted as a setting which would ensure screening is accessible; however, challenges of offering screening in primary care were identified including time to discuss screening, knowledge about the test and possible outcomes, and the health professionals' approach to offering screening. With the increasing availability of genetic carrier tests, it is essential that research now focuses on evaluating approaches for the delivery of carrier screening programs. Primary healthcare is perceived as an appropriate setting through which to access the target population, and raising awareness is essential to making genetic screening more accessible to the general community.
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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.