ArticleJournal of medical genetics1997
Cost effectiveness of DNA diagnosis for four monogenic diseases.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis 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
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
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- Fragile X Syndrome Secondary to in Vitro Fertilization With a Family Egg Donor: A Case Report and Review of the Literature.Journal of family & reproductive health · 2021Article
- Cost-effectiveness of the CFTR gene-sequencing test for asymptomatic carriers in the Colombian populationBiomedica : revista del Instituto Nacional de Salud · 2020Article
- Evaluating Cost-effectiveness of Interventions That Affect Fertility and Childbearing: How Health Effects Are Measured Matters.Medical decision making : an international journal of the Society for Medical Decision Making · 2015Review
- Genetic testing in the European Union: does economic evaluation matter?The European journal of health economics : HEPAC : health economics in prevention and care · 2012Article
- Estimating the survival benefits gained from providing national cancer genetic services to women with a family history of breast cancer.British journal of cancer · 2004Article
- Pharmacogenomic testing: the cost factor.The pharmacogenomics journal · 2001Review
- Genetic screening with the DNA chip: a new Pandora's box?Journal of medical ethics · 1999Article
- FMR1 and the fragile X syndrome: human genome epidemiology review.Genetics in medicine : official journal of the American College of Medical GeneticsReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered: cystic fibrosis, Duchenne muscular dystrophy, myotonic dystrophy, and fragile X syndrome. Counselling (triggered by previous information) on the basis of DNA diagnosis is compared to the situation that only risk evaluation based on pedigree analysis is possible. The results show for each disease that with DNA diagnosis, couples can be more confident in choosing (further) offspring leading to the birth of more healthy children while the number of affected children is reduced. The costs minus savings within the health care sector depend on the prior risks and on the future burden of the monogenic illness under consideration. DNA diagnosis of relative "low" prior risks of a child with CF (for example, 1:180, 1:240 and 1:480) leads to costs instead of savings. For higher prior risks of CF and for the three other diseases, DNA diagnosis produces considerable savings. This result remains valid when assumptions regarding behaviour, reproduction, and receiving DNA diagnosis under different circumstances are varied.
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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.