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  • 1
    Language: English
    In: Journal of community genetics, April 2012, Vol.3(2), pp.55
    Description: “Genetics and Democracy“ opens a series of special issues in the Journal of Community Genetics (JOCG), dedicated to topics of central interest in this field. JOCG special issues are created under the full editorial responsibility of their guest editors. All contributions undergo the regular peer-review process and are made available on-line in the same way as contributions to regular issues, typically within about two weeks after acceptance.
    Keywords: Biomedicine ; Public Health/Gesundheitswesen ; Human Genetics ; Epidemiology ; Gene Function ; Gene Therapy;
    ISSN: 1868310X
    E-ISSN: 1868-6001
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  • 2
    Language: English
    In: Health policy, February 2015, Vol.119(2), pp.164-173
    Description: As our understanding of genetics has increased, so has the number of genetic tests that have entered clinical practice. Given the need of many European health care systems to contain costs, the question of how to prioritise genetic tests fairly has become an emerging concern. This study uses a discrete-choice experiment to assess the value judgements of clinical geneticists, patient representatives and other stakeholders regarding the prioritisation of genetic tests. The respondents chose between two hypothetical scenarios that differed in severity of the disease, risk of the disease, aim of the test, medical benefit of the test, and costs of the test. Standard logit models and mixed effects models were used to estimate the weights different stakeholders attached to attribute levels. Responses from 594 participants were analysed. The most highly valued attribute levels were a proven medical benefit of the test, high risk of having the disease and low costs of the test. Results also showed that rankings differ between clinical geneticists and other stakeholders. The priority weights determined within this study can inform the policy debate and improve the consistency of prioritisation in genetics. Further stakeholder deliberation is needed to explore their most appropriate use in decision practice.
    Keywords: Discrete Choice Experiment ; Genetic Testing ; Resource Allocation ; Stakeholder ; Public Health
    ISSN: 0168-8510
    E-ISSN: 1872-6054
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  • 3
    Language: English
    In: Journal of Negative Results in BioMedicine, Feb 2, 2012, Vol.11, p.9
    Description: Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 (FBN1) gene, and mutations in FBN1 are known to be responsible for over 90% of all MFS cases. Locus heterogeneity has also been reported and confirmed, with mutations in the receptor genes TGFBR1 and TGFBR2 identified in association with MFS-related phenotypes. It is now known that dysregulation of TGF-#223; signaling is involved in MFS pathogenesis. To test the hypothesis that dysregulation of TGFBR3-associated TGF-#223; signaling is implicated in MFS or related phenotype pathogenesis, we selected a cohort of 49 patients, fulfilling or nearly fulfilling the diagnostic criteria for MFS. The patients were known not to carry a mutation in the FBN1 gene (including three 5' upstream alternatively spliced exons), the TGFBR1 and TGFBR2 genes. Mutation screening for the TGFBR3 gene in these patients and in controls led to the identification of a total of ten exonic (one novel), four intronic (one novel) and one 3'UTR variant in the TGFBR3 gene. Our data suggest that variations in TGFBR3 gene appear not to be associated with MFS or related phenotype.
    Keywords: Gene Mutation -- Health Aspects ; Gene Mutation -- Research ; Marfan Syndrome -- Risk Factors ; Marfan Syndrome -- Genetic Aspects ; Marfan Syndrome -- Research ; Growth Factor Receptors -- Genetic Aspects ; Growth Factor Receptors -- Physiological Aspects ; Growth Factor Receptors -- Research
    ISSN: 1477-5751
    Source: Cengage Learning, Inc.
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  • 4
    Language: English
    In: Journal of Negative Results in BioMedicine, Feb 2, 2012, Vol.11, p.9
    Description: Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 (FBN1) gene, and mutations in FBN1 are known to be responsible for over 90% of all MFS cases. Locus heterogeneity has also been reported and confirmed, with mutations in the receptor genes TGFBR1 and TGFBR2 identified in association with MFS-related phenotypes. It is now known that dysregulation of TGF-#223; signaling is involved in MFS pathogenesis. To test the hypothesis that dysregulation of TGFBR3-associated TGF-#223; signaling is implicated in MFS or related phenotype pathogenesis, we selected a cohort of 49 patients, fulfilling or nearly fulfilling the diagnostic criteria for MFS. The patients were known not to carry a mutation in the FBN1 gene (including three 5' upstream alternatively spliced exons), the TGFBR1 and TGFBR2 genes. Mutation screening for the TGFBR3 gene in these patients and in controls led to the identification of a total of ten exonic (one novel), four intronic (one novel) and one 3'UTR variant in the TGFBR3 gene. Our data suggest that variations in TGFBR3 gene appear not to be associated with MFS or related phenotype.
    Keywords: Gene Mutation -- Health Aspects ; Gene Mutation -- Research ; Marfan Syndrome -- Risk Factors ; Marfan Syndrome -- Genetic Aspects ; Marfan Syndrome -- Research ; Growth Factor Receptors -- Genetic Aspects ; Growth Factor Receptors -- Physiological Aspects ; Growth Factor Receptors -- Research
    ISSN: 1477-5751
    Source: Cengage Learning, Inc.
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  • 5
    Language: English
    In: PLoS ONE, 01 January 2017, Vol.12(6), p.e0178447
    Description: To develop a generic scale for assessing attitudes towards genetic testing and to psychometrically assess these attitudes in the context of BRCA1/2 among a sample of French general practitioners, breast specialists and gyneco-obstetricians.Nested within the questionnaire developed for the European InCRisC (International Cancer Risk Communication Study) project were 14 items assessing expected benefits (8 items) and drawbacks (6 items) of the process of breast/ovarian genetic cancer testing (BRCA1/2). Another item assessed agreement with the statement that, overall, the expected health benefits of BRCA1/2 testing exceeded its drawbacks, thereby justifying its prescription. The questionnaire was mailed to a sample of 1,852 French doctors. Of these, 182 breast specialists, 275 general practitioners and 294 gyneco-obstetricians completed and returned the questionnaire to the research team. Principal Component Analysis, Cronbach's α coefficient, and Pearson's correlation coefficients were used in the statistical analyses of collected data.Three dimensions emerged from the respondents' responses, and were classified under the headings: "Anxiety, Conflict and Discrimination", "Risk Information", and "Prevention and Surveillance". Cronbach's α coefficient for the 3 dimensions was 0.79, 0.76 and 0.62, respectively, and each dimension exhibited strong correlation with the overall indicator of agreement (criterion validity).The validation process of the 15 items regarding BRCA1/2 testing revealed satisfactory psychometric properties for the creation of a new scale entitled the Attitudes Towards Genetic Testing for BRCA1/2 (ATGT-BRCA1/2) Scale. Further testing is required to confirm the validity of this tool which could be used generically in other genetic contexts.
    Keywords: Sciences (General)
    E-ISSN: 1932-6203
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  • 6
    In: European Journal of Human Genetics, 2014
    Description: EuroGentest, an EU-funded Coordination Action, aims to harmonize genetic testing across Europe. EuroGentest unit 2 ‘Genetic testing as part of health care’ and the European Society of Human Genetics promote and coordinate the establishment of ‘Clinical Utility Gene Cards’ (CUGCs). These guidelines focus on the ability of a genetic test to significantly affect the clinical setting and patient outcome and hereby evaluate the benefits and risks of the test application. CUGCs, mainly aimed at clinicians, geneticists, referrers, service providers and payers in their decision to offer a genetic test to a person, are freely accessible.1, 2To establish clinical utility guidelines covering diagnostic next-generation sequencing (NGS) approaches, the current disease-specific format of the CUGC guidelines needs to be modified. Most importantly, core sets of genes representing state-of-the-art diagnostic approaches for a given disease (group) need to be defined. In a first step, we have started to build-up an NGS panel data collection, conceptually similar to a proposal of the Dutch Society for Clinical Genetic Laboratory Diagnostics working group.3 We have identified 28 laboratories having launched a total of 944 clinical NGS tests covering 2882 genes through an internet search using the web search engine Google. The keywords that were used as search terms were ‘next-generation sequencing panel’ and ‘NGS panel’.In the panel list we wish to collect comprehensive data from NGS providers including panel name and genes tested; the precise data requested are listed in the file described below. We here link this information to the according disease(s) and genetic background, including OMIM numbers, using data collected from Orphanet and Orphadata, respectively. Although directories of NGS panel providers already exist,4 to the best of our knowledge, this will be the first directory of NGS panels specifying the tests they contain. Our main purpose is to give users the opportunity to quickly identify diagnostic options according to different search terms, for example diseases, genes or countries. An overlap of tested genes between different providers can be determined by comparison and genes deemed essential by the providers can be easily identified, serving as the first step in the establishment of CUGCs for NGS-based genetic test applications in diagnostics. EuroGentest currently prepares a guideline about the application of NGS in the diagnostic setting that will be taken into consideration for the adaptation of the CUGC format (Gert Matthijs, personal communication, 20 December 2013).A prototype of our data collection is available at the EuroGentest website: https://eurogentest.eshg.org/index.php?id=668. We encourage NGS providers to contact us regarding their current services and to include them in this database.The authors declare no conflict of interest.This work was supported by EuroGentest2 (Unit 2: ‘Genetic testing as part of health care’), a Coordination Action under FP7 (Grant Agreement Number 261469) and the European Society of Human Genetics.
    Keywords: Medicine ; Biology;
    ISSN: 1018-4813
    E-ISSN: 14765438
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  • 7
    Language: English
    In: Fertility and Sterility, 2012, Vol.97(2), pp.402-406
    Description: To investigate a putative role of TSPYL1 in male idiopathic infertility. Clinical article. University hospital. A total of 104 infertile men were selected with idiopathic nonobstructive azoospermia, cryptozoospermia, oligozoospermia, oligonecrozoospermia, and oligoasthenoteratozoospermia (OAT) syndrome, along with a control group of 106 men with proven paternity. Mutation screening of the coding region and parts of the 5′ and 3′ untranslated regions of the gene was performed by polymerase chain reaction and sequencing. Occurrence of single-nucleotide polymorphisms (SNPs) and mutations. In these cohorts, eight known SNPs were identified, none of which was significantly associated with male infertility. Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel variant c.419C〉G (p.Ser140Cys), and the rare substitution c.1098C〉A (p.Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state. Additionally, one fertile man was found to be heterozygous for the rare variant c.487G〉A (p.Val163Ile). In silico analyses predicted a nonpathogenic effect for all amino acid exchanges, although protein features might be affected by p.Ser140Cys and p.Phe366Leu, respectively. Mutations in the gene do not seem to play a major role in the pathogenesis of idiopathic male infertility, and mutation screening of the gene can currently not be recommended in routine diagnostics of idiopathic male infertility.
    Keywords: Tspyl1 ; Mutation Analysis ; Male Idiopathic Infertility ; Medicine
    ISSN: 0015-0282
    E-ISSN: 1556-5653
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  • 8
    In: EFSA Supporting Publications, February 2013, Vol.10(2), pp.n/a-n/a
    Keywords: Programming Practice ; R ; Sas ; Statistical Software
    ISSN: 2397-8325
    E-ISSN: 2397-8325
    Source: John Wiley & Sons, Inc.
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  • 9
    Language: English
    In: International Journal of Legal Medicine, 2010, Vol.124(5), pp.449-450
    Description: A 20-year-old offspring of father–daughter incest, who has been suffering from serious psychomotoric health problems since early childhood, is seeking financial compensation under the German federal act of victim indemnification. For her appeal to be valid, the probability X that the incest was causal for her disorder must exceed 50%. Based upon the available medical records, we show that this is indeed the case and that X is even likely to exceed 65%, thereby rendering the victim’s claim scientifically and legally justified.
    Keywords: Incest ; Causality ; Autozygosity ; Epilepsy ; Syndrome
    ISSN: 0937-9827
    E-ISSN: 1437-1596
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  • 10
    Language: English
    In: Genes, 01 August 2010, Vol.1(2), pp.244-262
    Description: The TSPY gene, which encodes the testis-specific protein, Y-encoded, was first discovered and characterized in humans, but orthologous genes were subsequently identified on the Y chromosome of many other placental mammals. TSPY is expressed in the testis and to a much lesser extent in the prostate gland, and it is assumed that TSPY serves function in spermatogonial proliferation and/or differentiation. It is further supposed that TSPY is involved in male infertility and exerts oncogenic effects in gonadal and prostate tumor formation. As a member of the TSPY/SET/NAP protein family, TSPY is able to bind cyclin B types, and stimulates the cyclin B1-CDK1 kinase activity, thereby accelerating the G2/M phase transition of the cell cycle of target cells. Because the laboratory mouse carries only a nonfunctional Y-chromosomal Tspy-ps pseudogene, a knockout mouse model for functional research analyses is not a feasible approach. In the last decade, three classical transgenic mouse models have been developed to contribute to our understanding of TSPY regulation, expression and function. The different transgenic mouse approaches and their relevance for studying TSPY regulation, expression and function are discussed in this review.
    Keywords: Testis-Specific Protein, Y-Encoded (Tspy) ; Tspy-Like Proteins ; Male Meiosis ; Gonadoblastoma Oncogene ; Germ Cell Tumor Stem Cells ; Cell Cycle Regulation ; Transcription Regulation ; Neural Functions ; Tumor Suppressor ; Sexual Dimorphisms ; Biology
    ISSN: 2073-4425
    E-ISSN: 2073-4425
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