Introduction to Genetic Screening
Abstract
We present here the content and articles of this special issue on genetic screening, putting them in perspective with the field and between themselves.
OBM Genetics
(ISSN 2577-5790)
OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes a variety of article types (Original Research, Review, Communication, Opinion, Comment, Conference Report, Technical Note, Book Review, etc.). There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
Publication Speed (median values for papers published in 2023): Submission to First Decision: 5.1 weeks; Submission to Acceptance: 17.0 weeks; Acceptance to Publication: 7 days (1-2 days of FREE language polishing included)
Special Issue
Genetic Screening
Submission Deadline: July 31, 2017 (Closed) 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
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
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.
Manuscript Submission Information
Manuscripts should be submitted through the LIDSEN Submission System. Detailed information on manuscript preparation and submission is available in the Instructions for Authors. All submitted articles will be thoroughly refereed through a single-blind peer-review process and will be processed following the Editorial Process and Quality Control policy. Upon acceptance, the article will be immediately published in a regular issue of the journal and will be listed together on the special issue website, with a label that the article belongs to the Special Issue. LIDSEN distributes articles under the Creative Commons Attribution (CC BY 4.0) License in an open-access model. The authors own the copyright to the article, and the article can be free to access, distribute, and reuse provided that the original work is correctly cited.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). Research articles and review articles are highly invited. Authors are encouraged to send the tentative title and abstract of the planned paper to the Editorial Office (genetics@lidsen.com) for record. If you have any questions, please do not hesitate to contact the Editorial Office.
Welcome your submission!
Publication
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Newborn Screening for Genetic Diseases: An Overview of Current and Future Applicationsby
Damien Bouvier
and
Yves Giguère
Abstract Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and pre-symptomatic treatment will significantl [...] |
Newborn Screening Programs: Next Generation Ethical and Social IssuesAbstract Although newborn screening programs are among the ten most important public health achievements, a number of ethical, legal and social issues have emerged. Notably, the number of diseases screened; consent and notification processes; sample, retention; and potentially secondary use of residual blood spots are now contested. In addition, newbor [...] |
Moving Towards Routine Non-Invasive Prenatal Testing (NIPT): Challenges Related to Women’s AutonomyAbstract Women’s reproductive autonomy, and its translation into informed free choice regarding prenatal testing, is a dominant concept in the bioethical discourse concerning prenatal testing. This discourse is based on the premise that access to information regarding the pregnancy promotes autonomous decision-making. However, studies show that the [...] |
Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of LifeAbstract Technology makes it possible to expand many of the current screening programs. In preconception screening for carrier status of recessive diseases, prenatal screening for aneuploidies and neonatal screening initially programs were targeting one or a few conditions. Tandem mass spectrometry and genomic technologies, such as sequencing and panel [...] |
Carrier Screening for Cystic Fibrosis: Past, Present and Futureby
Myrto Poulou
and
Maria Tzetis
Abstract Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity and mortality. Because of the severe clinica [...] |
Preimplantation Genetic Screeningby
Karen Sermon
Abstract The main aim of PGS has always been to improve IVF outcome, especially in patient groups assumed to have higher rates of chromosomally abnormal embryos, such as patients of advanced maternal age. In that sense, PGS is quite different from other types of screening as discussed in other papers in this issue.
Today it bears no doubt that blastoc [...] |
Prenatal Screening for Fetal Aneuploidyby
Sylvie Langlois
and
R Douglas Wilson
Abstract Prenatal genetic aneuploidy screening approaches are designed to identify pregnant patients at increased risk of having a fetus affected. Conventional prenatal screening has consisted in providing women a risk estimate of having a pregnancy affected with trisomy 21 or trisomy 18 based on maternal age and analysis of serum markers and ultrasoun [...] |
Avoiding the Technological Imperative: Criteria for Genetic Screening Programsby
Anne-Marie Laberge
and
Wylie Burke
Abstract Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers [...] |
Carrier Screening for the Haemoglobinopathies: Past, Present and Futureby
John Old
and
Cornelis Harteveld
Abstract Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving [...] |
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Vidhi is a Clinical yoga therapist; mentor for yoga therapy training in Krishnamacharya tradition. She holds a MSc in Public health from Kings College London.
Mirela Olympia Fagarasan Palmer
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Zhong-Ting (Justin) is a PhD student from Nanyang Technological University (Singapore). He holds BSc in Applied Chemistry and MSc in Environmental Engineering. He was a R&D researcher of NanoMaterials Technology Pte Ltd in Singapore (2006-2012). His current research interests are functional nanomaterials synthesis & design, and their application into environmental/chemical engineering. He has published near 60 SCI papers in Applied Catalysis B, Chemical Engineering Journal and so on with H-Index 23. He also serviced as reviewers over 40 Journals such as Appl. Catal. B, Water Research, Chem. Eng. J, ACS Applied Materials & Interface, etc. He was honored such as “The Bsic Research Achievment 1st Award of CIESC”, “The ZJUT Fund Breeding Distinguished Young Scholars” etc.
Rolf Teschke studied Medicine in Munich and Marburg, where he finished his MD thesis before starting a residency at the Department of Pathology, University of Marburg. Subsequently and with a fellowship of the Deutsche Forschungsgmeinschaft, he worked at the Bronx VA Hospital/Mount Sinai Hospital in New York during 1972–1975 together with Professor Charles S. Lieber and successfully isolated MEOS and expanded its characterization. Back in Germany, he was at the Heinrich-Heine University in Düsseldorf with a focus on alcoholic liver disease, biochemical drug studies, and clinical intoxications by halogenated aliphatic hydrocarbons, where he became a Professor of Medicine. In 1987, he was offered a chief position and appointed as Director of the Medical Department II, City Hospital Hanau, Teaching Hospital of the Johann Wolfgang Goethe University Frankfurt/Main. His clinical and research interests are on liver injury by drugs and herbs including causality assessment by RUCAM in close association with Dr. Gaby Danan in Paris. A perfect cooperation exists also with Professor Tran Dang Xuan of the University of Hiroshima, Japan. Finally, he is the author of more than 275 publications including books and book chapters, and he is editor in chief of scientific journals and member of editorial boards.