ArticleJournal of medical genetics1994
The impact of population based screening for carriers of cystic fibrosis.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 3 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
29 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2021Pooled it
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2018Pooled it
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2015Pooled it
- Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.American journal of human genetics · 2018Trial
- Realising the potential of the family history in risk assessment and primary prevention of coronary heart disease in primary care: ADDFAM study protocol.BMC health services research · 2009Trial
- Cystic fibrosis carrier population screening in the primary care setting.American journal of human genetics · 1996Trial
- Teaching about cystic fibrosis carrier screening by using written and video information.American journal of human genetics · 1995Trial
- Adolescents' experiences and views of the national school-based thalassaemia screening programme in Malaysia: a qualitative study.Journal of community genetics · 2023Article
- Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan.Journal of genetic counseling · 2015Article
- Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Review
- Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases.Journal of community genetics · 2014Article
- Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature.Journal of community genetics · 2014Article
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
- Distress and psychosocial needs of a heterogeneous high risk familial cancer population.Journal of genetic counseling · 2011Article
- Preconceptional genetic carrier testing and the commercial offer directly-to-consumers.Human reproduction (Oxford, England) · 2011Article
- Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing?Journal of genetic counseling · 2011Review
- Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations.European journal of human genetics : EJHG · 2009Article
- Psychological adjustment and knowledge about hereditary hemochromatosis in a clinic-based sample: a prospective study.Journal of genetic counseling · 2005Article
- Women's attitudes toward testing for fragile X carrier status: a qualitative analysis.Journal of genetic counseling · 2005Article
- Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening.Journal of genetic counseling · 2004Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The purpose of the study was to evaluate the short-term effects of population based screening for carriers of cystic fibrosis. The outcome measures included perceptions of health, anxiety, and understanding of test results. Those adults aged between 18 and 45, registered with a general practice in Inner London, who accepted the offer of carrier testing, completed questionnaires before testing, upon receipt of results, and three months later. Full data were obtained from 427 with negative test results and 14 carriers. Receipt of results had no effect upon perceptions of health or perceived risk of having an abnormal baby. Those receiving a positive test result were significantly more anxious upon receipt of this result. By three months, this anxiety had dissipated. While knowledge of the test improved from before to after testing, by three months there was some decay. Although the residual risk among those with a negative result of being a carrier was given as 1:135, at least 17% of those receiving a negative result incorrectly believed that they were at no risk of having a child with cystic fibrosis. Five of the 14 receiving a positive result erroneously believed that their results meant that they probably, but not definitely, carried the gene for cystic fibrosis. In the longer term the greatest problem of population screening would appear to be one of false reassurance rather than anxiety. Longer term studies are needed to determine how well carrier status information is retained, and how carriers and carrier couples plan and respond to pregnancy and how much understanding they retain of their test results.
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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.