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Cecile Janssens


Brief CV

Cecile Janssens is professor of translational epidemiology at the department of Epidemiology of the Erasmus University Medical Center in Rotterdam, the Netherlands. Cecile Janssens has an MA in psychology, an MSc in epidemiology and obtained her PhD in 2003. She works in clinical and public health genomics, with a primary focus on assessing the predictive value and potential utility of genomic profiling in the prevention and treatment of complex diseases. Her interests include the evaluation of the validity, utility and public health impact of genetic testing, lay perceptions of genetics and genomics, ethical, legal and societal issues, and genetic epidemiology. Cecile Janssens is awarded a Young Investigators fellowship by the Erasmus University Medical Center and a personal Innovative Research Grant by the Dutch Research Council.

Cecile chairs the Dutch Association for Community Genetics and Public Health Genomics, is a board member of the Dutch Society of Human Genetics and participates in several (inter)national networks, including the Center for Medical Systems Biology (CMSB), the European Special Populations Research Network (Eurospan), the European Network of Genomic and Genetic Epidemiology (ENGAGE), the societal issues committee of the International Genetic Epidemiology Society (IGES). She is a member of the editorial board of Medical Decision Making, Public Health Genomics and the new Journal of Community Genetics. Starting from 2008, she coordinates a master of science programme in clinical and public health genomics in the Netherlands Institute for Health Sciences (Nihes).


Her research concerns the translation of genomics research to applications in clinical practice and public health. The focus of her work is on the prediction of complex diseases by genomic profiling and on the evaluation of the usefulness of genetic testing, and includes a series of modeling studies that investigate the role of various aspects of genes and disorders (e,g., genotype frequency, heritability, disease prevalence) on the predictive value of genomic profiling, as well as analyses of empirical genetic epidemiological studies, including several association studies on metabolic disease and depression. In addition to studies on the genetic prediction of complex diseases, she is also interested and working on psychological, behavioral and ethical aspects of genetic testing, which is relevant for the implementation of genetic tests in the future.

PhD students:
Raluca Mihaescu
Suman Kundu
Eline Bunnik
Rachel Kalf

MSc students:
Adriana Iglesias
Cathelijne Meijer


Introduction to Clinical and Public Health Genomics (Winter 2012)


Cecile is currently involved in the following projects:

Selected publications (for all publications see PubMed)

ACJW Janssens, MJ Khoury. Assessment of improved prediction beyond traditional risk factors: when does a difference make a difference? Circ: Cardiovasc Genet 2010;3:3-5.

ACJW Janssens, CM van Duijn. An epidemiological perspective on the future of direct-to-consumer personal genome testing. Investigative Genetics 2010;1:10.

ACJW Janssens. Why realistic test scenarios in translation genomics research remain hypothetical. Public Health Genomics 2010;13:166-8.

S Seshadri, AL Fitzpatrick, MA Ikram, AL DeStefano, V Gudnason, M Boada, JC Bis, AV Smith, MM Carassquillo, JC Lambert, D Harold, EMC Schrijvers, R Ramirez-Lorca, S Debette, WT Longstreth Jr, ACJW Janssens, et al, on behalf of the CHARGE, GERAD1, and EADI1 consortia. Genome-wide analysis of genetic loci associated with Alzheimer’s Disease. JAMA 2010;303:1832-40.

B Ferket, B van Kempen, ACJW Janssens. Assessing predictive performance beyond the Framing Risk Score—Letter to the Editor. JAMA 2010;303:1368.

R Miheascu, SB Detmar, MC Cornel, MGM Olde Rikkert, WM van der Flier, P Heutink, EM Hol, CM van Duijn, ACJW Janssens. Translational research in genomics of Alzheimer’s Disease: a review of current practice and future perspectives. J Alz Dis 2010;20:967-80.

R Mihaescu, M van Zitteren, M van Hoek, EJ Sijbrands, AG Uitterlinden, JC Witteman, A Hofman, MG Hunink, CM van Duijn, ACJW Janssens. Improvement of risk prediction by genomic profiling: reclassification measures versus the area under the receiver operating characteristic curve. Am J Epidemiol 2010;172:353-61.

TM Teslovich, K Musunuru, AV Smith, AC Edmondson, IM Stylianou, M Koseki, JP Pirruccello, S Ripatti, DI Chasman, CJ Willer, CT Johansen, SW Fouchier, A Isaacs, […], ACJW Janssens, […], LA Cupples, MS Sandhu, PM Ridker, DJ Rader, CM van Duijn, L Peltonen, GR Abecasis, M Boehnke, S Kathiresan. Biological, clinical and population relevance of 95 loci mapped for serum lipid concentrations. Nature 2010; 466:707-13.

A de Jong, M Teeuw, ACJW Janssens. Whole Genome Sequencing – nieuwe mogelijkheden voor de gezondheidszorg? Ned Tijdschr Geneesk 2010;154:A2753.

ACJW Janssens, CM van Duijn. Genome-based prediction of common diseases: methodological considerations for future research. Genome Med 2009:1:20.

ACJW Janssens, AM González-Zuloeta Ladd, S López-Léon, JPA Ioannidis, MJ Khoury, BA Oostra, CM van Duijn. Value of meta-analyses on gene-disease association in the era of large-scale consortia and biobank studies. Genet Med 2009.

R Mihaescu, M van Hoek, EJG Sijbrands, AG Uitterlinden, JCM Witteman, A Hofman, CM van Duijn, ACJW Janssens. Updating risk predictions in commercial genome-wide scans: a critical assessment of the benefit. Genet Med 2009.

ACJW Janssens. Why realistic test scenarios in translation genomics research remain hypothetical. Public Health Genomics 2009.

YS Aulchenko, S Ripatti, I Lindqvist, D Boomsma, IM Heid, PP Pramstaller, BWJH Penninx, ACJW Janssens, et al., & for the ENGAGE Consortium. Major loci of genetic profiles determining lipid levels and contributing to the risk of coronary heart disease in 16 European populations. Nat Genet 2009;41:47-55.

JB van der Net, ACJW Janssens, JC Defesche, JJP Kastelein, EJG Sijbrands, EW Steyerberg. Prediction of Coronary Heart Disease Risk in Familial Hypercholesterolemia by Genetic Polymorphisms and Conventional Risk Factors. Am J Cardiol 2009;103:375-80.

JB van der Net, ACJW Janssens, EJG Sijbrands, EW Steyerberg. Can genetic profiling be useful for the prediction of coronary heart disease in patients with familial hypercholesterolemia. Am Heart J 2009.

ACJW Janssens. Is the time right for translation research in genomics? Eur J Epidemiol 2008.

ACJW Janssens, CM van Duijn. Genome-based prediction of common diseases: advances and prospects. Hum Mol Genet 2008:17;R166-73.

ACJW Janssens, LA Bradley, M Gwinn, BA Oostra, CM van Duijn, MJ Khoury. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008;82:593-9.

S Lopez Leon, ACJW Janssens, AM González-Zuloeta Ladd, J Del-Favero, SJ Claes, BA Oostra, CM van Duijn. Meta-analyses of Genetic Studies on Major Depressive Disorder. Mol Psychiatry 2008;13:772-85.

M van Hoek, A Dehgan, JCM Witteman, CM van Duijn, BA Oostra, EJG Sijbrands, ACJW Janssens. Prediction of type 2 diabetes in a population-based study based on nine replicated genetic variants from genome-wide association studies. Diabetes 2008;57:3122-8.

DDG Despriet, CCW Klaver, CM van Duijn, ACJW Janssens. Predictive Value of Multiple Genetic Testing for Age-related Macular Degeneration [Editorial]. Arch Ophthalmol 2007;125:1270-1.

ACJW Janssens, Q Yang, R Moonesinghe, EW Steyerberg, CM van Duijn, MJ Khoury. The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases. Genet Med 2007;9:528-35.

ACJW Janssens, MJ Khoury. Predictive value of testing for multiple genetic variants in multifactorial diseases: implications for the discourse on ethical, legal and social issues. Ital J Public Health 2006;3:35-41. PDF

ACJW Janssens, M Gwinn, R Valdez, KM Venkat Narayan, MJ Khoury. Predictive genetic testing for type 2 diabetes may raise unrealistic expectations [Editorial]. BMJ 2006;333:509-10.

ACJW Janssens, YS Aulchenko, S Elefante, GJJM Borsboom, EW Steyerberg, CM van Duijn. Presymptomatic testing for complex diseases using multiple genes: fact or fiction? Genet Med 2006;8:395-400.

ACJW Janssens, MC Pardo, EW Steyerberg, CM van Duijn. Revisiting the clinical validity of multiplex genetic testing in complex diseases. Am J Hum Genet 2004;74:585-8.