Journal Flyer

Current issue: 2017 

Special Issue

Genetic Screening

Submission Deadline: July 31, 2017 (Open)               Submit Now

Guest Editors

Joanne Traeger-Synodinos, DPhil (Oxon)
Associate Professor of Genetics, Department of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, Athens 11527, Greece
E-Mail: jtraeger@med.uoa.gr
LinkedIn: https://gr.linkedin.com/in/dr-jan-traeger-synodinos-d-phil-oxon-a3102a45
Research Interests: medical genetics; molecular genetics; reproductive genetics

François Rousseau, MD, MSc, FRCPC, FCAHS
Full Professor, Department of Medical Biology, Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec, Québec G1L 3L5, Canada
E-Mail: francois.rousseau@mac.com
Website: http://www.decision.chaire.fmed.ulaval.ca/en/research-team/rousseau-francois
Research Interests: laboratory medicine; evaluative research; population genetics; genetic epidemiology; technology transfer; health systems research

About This Topic

The impact of genetic diseases on health care systems, and society overall, is substantial. Diseases with a genetic component account for an significant proportion of death, morbidity, physical and/or mental handicap and disability, as well as reproductive failure (infertility, miscarriage etc). It is estimated that almost 8% of individuals up to the age of 25 years may be diagnosed with a genetic condition, over 30% of childhood hospital admissions have a disorder that is, at least partly, genetically determined, and the genetic component of many common multifactorial diseases should not be underestimated. 

Genetic screening aims to reduce the prevalence of genetic disorders and/or support decisions and choices with family planning by testing individuals without symptoms nor a family history of a genetic disease. Genetic screening thus involves the systematic and timely detection or exclusion of a hereditary disease, or the predisposition to a genetic disease or to establish if a person or couple carries a condition that could lead to a hereditary disease in offspring.

In this special issue of OBM Genetics, we have selected topics that highlight the progress, the state-of–the-art and future potential of genetic screening, ranging from practical and technological aspects through to social and ethical issues. Overall this issue provides information to promote and support optimal quality in standards of genetic screening in medical practice. 

Planned Papers

Title: Introduction on genetic screening
Authors: Joanne Traeger-Synodinos 1, François Rousseau 2
Affiliations: 1. Department of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, Athens 11527, Greece
2. Department of Medical Biology, Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec, Québec G1L 3L5, Canada

Title: Carrier Screening for the hemoglobinopathies: past, present and future
Authors: John Old 1, Cornelis Harteveld 2
Affiliations: 1. Former Director of the National Haemoglobinopathy Reference Service, John Radcliffe Hospital, Oxford, UK
2. Leiden University Medical Center, Leiden, the Netherlands

Title: Preimplantation genetic screening
Author: Karen D. Sermon
Affiliation: Research Group Reproduction and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium

Title: Expanded screening programs for genetic diseases
Author: Martina C. Cornel
Affiliation: Department of Clinical Genetics, Section Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, the Netherlands

Title: Prenatal screening programs for Fetal Aneuploidy
Author: Sylvie Langlois
Affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada

Title: Neonatal screening programs for genetic diseases: current and future applications
Author: Yves Giguère
Affiliation: Programme québécois de Dépistage Néonatal Sanguin, CHU de Québec-Université Laval, Québec City, Québec, Canada

Title: Criteria for Genetic Screening
Authors: Wylie Burke 1, Anne-Marie Laberge 2 
Affiliations: 1. Department of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA
2. Université de Montréal, Montréal, Quebec, Canada

Title: Ethical and social issues related to Genetic Screening
Authors: Vardit Ravitsky 1, Bartha Knoppers 2
Affiliations: 1. Department of Human Genetics, Faculty of Medicine, McGill University, Canada
2. Department of social and preventive medicine, Université de Montréal, Canada

Title: Carrier Screening for cystic fibrosis: past, present and future
Authors: Maria Tzetis; Myrto Poulou
Affiliation: Department of Medical Genetics, Medical School, National & Kapodistrian University of Athens, Athens, Greece