Submission Deadline: July 31, 2017 (Open) Submit Now
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: [email protected]
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: [email protected]
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.
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: 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