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)

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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

Website | E-Mail

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

Website | E-Mail

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!


Open Access Editorial

Introduction to Genetic Screening

Received: 06 September 2019;  Published: 11 September 2019;  doi: 10.21926/obm.genet.1903094


We present here the content and articles of this special issue on genetic screening, putting them in perspective with the field and between themselves.
Open Access Review

Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications

Received: 01 July 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903093


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 [...]
Open Access Original Research

Newborn Screening Programs: Next Generation Ethical and Social Issues

Received: 19 October 2017;  Published: 14 August 2018;  doi: 10.21926/obm.genet.1803027


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 [...]
Open Access Opinion

Moving Towards Routine Non-Invasive Prenatal Testing (NIPT): Challenges Related to Women’s Autonomy

Received: 10 February 2018;  Published: 19 April 2018;  doi: 10.21926/obm.genet.1802018


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 [...]
Open Access Opinion

Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life

Received: 13 July 2017;  Published: 11 February 2018;  doi: 10.21926/obm.genet.1801013


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 [...]
Open Access Review

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Received: 31 July 2017;  Published: 01 November 2017;  doi: 10.21926/obm.genet.1704010


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 [...]
Open Access Review

Preimplantation Genetic Screening

Received: 11 August 2017;  Published: 26 October 2017;  doi: 10.21926/obm.genet.1704009


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 [...]
Open Access Review

Prenatal Screening for Fetal Aneuploidy

Received: 01 August 2017;  Published: 26 September 2017;  doi: 10.21926/obm.genet.1703007


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 [...]
Open Access Review

Avoiding the Technological Imperative: Criteria for Genetic Screening Programs

Received: 30 July 2017;  Published: 21 September 2017;  doi: 10.21926/obm.genet.1703006


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 [...]
Open Access Review

Carrier Screening for the Haemoglobinopathies: Past, Present and Future

Received: 03 July 2017;  Published: 14 August 2017;  doi: 10.21926/obm.genet.1703005


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 [...]