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Cost-effectiveness of different strategies to prevent breast and ovarian cancer in German women with a BRCA 1 or 2 mutation
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND Women with a BRCA1 or BRCA2 mutation are at increased risk of developing breast and/or ovarian cancer. This economic modeling study evaluated different preventive interventions for 30-year-old …d women with a confirmed BRCA (1 or 2) mutation. METHODS A Markov model was developed to estimate the costs and benefits [i.e., quality-adjusted life years (QALYs), and life years gained (LYG)] associated with prophylactic bilateral mastectomy (BM), prophylactic bilateral salpingo-oophorectomy (BSO), BM plus BSO, BM plus BSO at age 40, and intensified surveillance. Relevant input data was obtained from a large German database including 5902 women with BRCA 1 or 2, and from the literature. The analysis was performed from the German Statutory Health Insurance (SHI) perspective. In order to assess the robustness of the results, deterministic and probabilistic sensitivity analyses were performed. RESULTS With costs of \text€29,434 and a gain in QALYs of 17.7 (LYG 19.9), BM plus BSO at age 30 was less expensive and more effective than the other strategies, followed by BM plus BSO at age 40. Women who were offered the surveillance strategy had the highest costs at the lowest gain in QALYs/LYS. In the probabilistic sensitivity analysis, the probability of cost-saving was 57% for BM plus BSO. At a WTP of 10,000 \text€ per QALY, the probability of the intervention being cost-effective was 80%. CONCLUSIONS From the SHI perspective, undergoing BM plus immediate BSO should be recommended to BRCA 1 or 2 mutation carriers due to its favorable comparative cost-effectiveness.

Authors: Dirk Müller, Marion Danner, Kerstin Rhiem, Björn Stollenwerk, Christoph Engel, Linda Rasche, Lisa Borsi, Rita Schmutzler, Stephanie Stock

Date Published: 1st Apr 2018

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

The prevalence of germ line mutations in non-BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. … In this study, 5589 consecutive BC index patients negative for pathogenic BRCA1/2 mutations and 2189 female controls were screened for germ line mutations in eight cancer predisposition genes (ATM, CDH1, CHEK2, NBN, PALB2, RAD51C, RAD51D, and TP53). All patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germ line testing. The highest mutation prevalence was observed in the CHEK2 gene (2.5%), followed by ATM (1.5%) and PALB2 (1.2%). The mutation prevalence in each of the remaining genes was 0.3% or lower. Using Exome Aggregation Consortium control data, we confirm significant associations of heterozygous germ line mutations with BC for ATM (OR: 3.63, 95%CI: 2.67-4.94), CDH1 (OR: 17.04, 95%CI: 3.54-82), CHEK2 (OR: 2.93, 95%CI: 2.29-3.75), PALB2 (OR: 9.53, 95%CI: 6.25-14.51), and TP53 (OR: 7.30, 95%CI: 1.22-43.68). NBN germ line mutations were not significantly associated with BC risk (OR:1.39, 95%CI: 0.73-2.64). Due to their low mutation prevalence, the RAD51C and RAD51D genes require further investigation. Compared with control datasets, predicted damaging rare missense variants were significantly more prevalent in CHEK2 and TP53 in BC index patients. Compared with the overall sample, only TP53 mutation carriers show a significantly younger age at first BC diagnosis. We demonstrate a significant association of deleterious variants in the CHEK2, PALB2, and TP53 genes with bilateral BC. Both, ATM and CHEK2, were negatively associated with triple-negative breast cancer (TNBC) and estrogen receptor (ER)-negative tumor phenotypes. A particularly high CHEK2 mutation prevalence (5.2%) was observed in patients with human epidermal growth factor receptor 2 (HER2)-positive tumors.

Authors: Jan Hauke, Judit Horvath, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang-Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber-Lassalle, Konstantin Weber-Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Holger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, Natalie Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

Date Published: 1st Apr 2018

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Psychometric properties of the Satisfaction with Life Scale (SWLS), derived from a large German community sample.
LIFE Adult

Abstract (Expand)

PURPOSE: The aim of this study was to test psychometric properties of the Satisfaction with Life Scale (SWLS), to provide normative values, and to analyze associations between life satisfaction and … sociodemographic and behavioral data. METHODS: A German community sample (n = 9711) with an age range of 18-80 years was surveyed using the SWLS and several other questionnaires. Confirmatory factor analysis (CFA) was used to test the dimensionality of the SWLS. Invariance across gender and age groups was tested with multiple-group CFA. Associations between SWLS, sociodemographic variables, and behavioral variables were tested with ANOVAs. RESULTS: Confirmatory factorial analysis results confirmed that the SWLS is a one-dimensional scale. Measurement invariance across gender was completely confirmed, while concerning age strict measurement invariance was confirmed. The effects of gender and age on satisfaction with life were weak. Satisfaction with life was associated with fatigue (r = - .49), the mental component of quality of life (r = .45), anxiety (r = - .42), dispositional optimism (r = .41), pessimism (r = - .34), sleep quality (r = - .32), and sociodemographic factors such as marital status, income, and occupational status. Non-smokers reported higher life satisfaction than smokers. CONCLUSIONS: Because of the good psychometric properties, the SWLS can be recommended for use in epidemiological research. Normative values based on a large community sample are provided.

Authors: A. Hinz, I. Conrad, M. L. Schroeter, H. Glaesmer, E. Brahler, M. Zenger, R. D. Kocalevent, P. Y. Herzberg

Date Published: 29th Mar 2018

Publication Type: Not specified

Quality Requirements for Electronic Health Record Systems: A Japanese-German Information Management Perspective
Management of health information systems

Abstract

Not specified

Authors: Alfred Winter, Katsuhiko Takabayashi, Franziska Jahn, Eizen Kimura, Rolf Engelbrecht, Reinhold Haux, Masayuki Honda, Ursula Hübner, Sozo Inoue, Christian Dominik Kohl, Takehiro Matsumoto, Yasushi Matsumura, Kengo Miyo, Naoki Nakashima, Hans-Ulrich Prokosch, Martin Staemmler

Date Published: 31st Jan 2018

Publication Type: Journal article

Discussion of \textquotedblRepresentation of People’s Decisions in Health Information Systems: A Complementary Approach for Understanding Health Care Systems and Population Health\textquotedbl
Management of health information systems

Abstract (Expand)

This article is part of a For-Discussion-Section of Methods of Information in Medicine about the paper \textquotedblRepresentation of People’s Decisions in Health Information Systems: A Complementary … Approach for Understanding Health Care Systems and Population Health\textquotedbl written by Fernan Gonzalez Bernaldo de Quiros, Adriana Ruth Dawidowski, and Silvana Figar. It is introduced by an editorial. This article contains the combined commentaries invited to independently comment on the paper of de Quiros, Dawidowski, and Figar. In subsequent issues the discussion can continue through letters to the editor.

Authors: Najeeb Al-Shorbaji, Elizabeth M. Borycki, Michio Kimura, Christoph U. Lehmann, Nancy M. Lorenzi, Lincoln A. Moura, Alfred Winter

Date Published: 31st Jan 2018

Publication Type: Journal article

On Teaching International Courses on Health Information Systems: Lessons Learned during 16 Years of Frank - van Swieten Lectures on Strategic Information Management in Health Information Systems
Management of health information systems

Abstract

Not specified

Authors: Elske Ammenwerth, Petra Knaup-Gregori, Alfred Winter, A.W. Bauer, O.J. Bott, M. Gietzelt, B. Haarbrandt, W.O. Hackl, N. Hellrung, G. Hübner-Bloder, Franziska Jahn, M.W. Jaspers, U. Kutscha, C. Machan, B. Oppermann, J. Pilz, J. Schwartze, C. Seidel, J.E. Slot, S. Smers, K. Spitalewski, N. Steckel, Alexander Strübing, M. van der Haak, Reinhold Haux, W.J. ter Burg

Date Published: 31st Jan 2018

Publication Type: Journal article

Modeling Interoperable Information Systems with 3LGM^2 and IHE
Management of health information systems

Abstract

Not specified

Authors: Sebastian Stäubert, Michael Schaaf, Franziska Jahn, Ralf Brandner, Alfred Winter

Date Published: 22nd Jan 2018

Publication Type: Journal article

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