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.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
van der Riet AA,van Hout BA,Rutten FFdoi
10.1136/jmg.34.9.741subject
Has Abstractpub_date
1997-09-01 00:00:00pages
741-5issue
9eissn
0022-2593issn
1468-6244journal_volume
34pub_type
杂志文章abstract::Various heteromorphisms of the 9q heterochromatic area have been reported. In most instances, the extra G positive band is accompanied by an extra C band. We describe a family where the extra G band is totally euchromatic and does not include an extra C band. It is not clear whether these two types of variant chromoso...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.7.613
更新日期:1993-07-01 00:00:00
abstract:OBJECTIVES:Current technologies for delivering gene testing are labour-intensive and expensive. Over the last 3 years, new high-throughput DNA sequencing techniques (next generation sequencing; NGS), with the capability to analyse multiple genes or entire genomes, have been rapidly adopted into research. This study exa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-100847
更新日期:2012-05-01 00:00:00
abstract::A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delay...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.4.232
更新日期:1987-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-105188
更新日期:2018-06-01 00:00:00
abstract::Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.050450
更新日期:2007-12-01 00:00:00
abstract::Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.1.73
更新日期:1978-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.081455
更新日期:2011-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.12.854
更新日期:1988-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.8.697
更新日期:1993-08-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.2007.052019
更新日期:2007-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.12.853
更新日期:1992-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.052902
更新日期:2007-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.3.221
更新日期:1984-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.4.310
更新日期:1976-08-01 00:00:00
abstract:PURPOSE AND SCOPE:The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been...
journal_title:Journal of medical genetics
pub_type: 杂志文章,实务指引
doi:10.1136/jmedgenet-2015-103144
更新日期:2015-07-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.5.388
更新日期:1978-10-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.38.3.145
更新日期:2001-03-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.12.865
更新日期:1991-12-01 00:00:00
abstract::An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.024455
更新日期:2004-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.8.670
更新日期:1997-08-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.3.182
更新日期:1976-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.2006.044388
更新日期:2007-02-01 00:00:00
abstract::Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an a...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.8.527
更新日期:1992-08-01 00:00:00
abstract:BACKGROUND:Enzyme deficiencies of the oxidative phosphorylation (OXPHOS) system may be caused by mutations in the mitochondrial DNA (mtDNA) or in the nuclear DNA. OBJECTIVE:To analyse the sequences of the mtDNA coding region in 25 patients with OXPHOS system deficiency to identify the underlying genetic defect. RESUL...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.042168
更新日期:2006-11-01 00:00:00
abstract::The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation coul...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.32.11.871
更新日期:1995-11-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.5.348
更新日期:1995-05-01 00:00:00
abstract:BACKGROUND:Posterior polar cataract is a clinically distinctive opacity located at the back of the lens. It is commonly acquired in age related cataract, and may infrequently occur in pedigrees with congenital cataract. To date, five loci for autosomal dominant congenital posterior polar cataract have been identified. ...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.034876
更新日期:2006-10-01 00:00:00
abstract::Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning disability. There is genetic heterogeneity with loci for TSC on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). The recently c...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.12.969
更新日期:1998-12-01 00:00:00
abstract::Hereditary non-polyposis colon cancer (HNPCC) is a heterogeneous group of tumour predisposition syndromes caused by germline mutations in at least four different mismatch repair genes. HNPCC patients are prone to the development of carcinomas of the intestinal tract and other specific sites. Identification of presumpt...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-12-01 00:00:00
abstract::Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.8.457
更新日期:1987-08-01 00:00:00