Genetic screening techniques and diseases for neonatal genetic diseases

The global Human Genome Project (HGP) promises dramatic advances in biomedical science and in identifying and treating diseases and illnesses that exact an enormous toll on people throughout the world. The HGP portends a conceptual revolution in health care: many foresee a new “predictive medicine” based on the development of genetic screening, testing and gene therapy.Although advances in genetic science create the potential for dramatic progress against disease in rich and poor states, they also pose profound national and global policy concerns, including the potential impact of the scientific developments on human rights and public health. The development of more precise genetic information raises the specter of genetic discrimination by public and private sectors in all nations with access to the new technologies. In addition, nations will grapple increasingly with the appropriate balance between screening for and treatment of genetic diseases in order to promote public health and protect individual rights to privacy and confidentiality. Genetic screening and services also raise human rights questions relating to equitable resource allocation and the protection of public health.

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The Importance of Early Detection of Genetic Diseases

Dubai Medical Journal ◽

10.1159/000514215 ◽

2021 ◽

Vol 4 (2) ◽

pp. 133-141

Author(s):

Suma Elcy Varghese ◽

Rana Hassan Mohammad El Otol ◽

Fatma Sultan Al Olama ◽

Salah Ahmad Mohamed Elbadawi

Keyword(s):

Early Detection ◽

Newborn Screening ◽

Health Authority ◽

Genetic Screening ◽

Screening Program ◽

Genetic Disorders ◽

Genetic Diseases ◽

Inborn Errors ◽

The Usa ◽

Premarital Screening

Background: Early detection of diseases in newborn may help in early intervention and treatment, which may either cure the disease or improve the outcome of the patient. Dubai’s Health Authority has a newborn screening program which includes screening for metabolic and genetic conditions, for hearing and vision, and for congenital heart disease. Objectives: The objectives of this study are to assess the outcome of the newborn genetic screening program, to correlate the association between the outcome of the program and demographic variables and to find out the percentage of the number of infants who were confirmed to have the genetic disease (by confirmatory tests) out of the total infants who had positive screening test results. Methods: During the period of the study from January 2018 to December 2018, a total of 7,027 newborns were tested in Dubai Health Authority facilities by the newborn genetic screening program (known as the “Step One Screening”). Blood samples were collected by heel prick on a collection paper. All samples were transported to PerkinElmer Genomics in the USA where the tests were done. The genetic disorders identified were correlated with different variables like gender and nationality. The data were entered in an excel sheet and analyzed by using SPSS software. All infants aged 0–3 months who have done newborn genetic screening at Dubai Health Authority facilities between January and December 2018 were included. Results: The incidence of screened disorders was 1:7,027 for congenital adrenal hyperplasia, 1:1,757 for congenital hypothyroidism, 1:1,757 for inborn errors of metabolism, 1:2,342 for biotinidase deficiency, 1:1,171 for hemoglobinopathies, 1:12 for hemoglobinopathy traits, and 1:10 for different genetic mutations of G6PD deficiency. Conclusions: There is a high incidence of different genetic diseases detected by newborn screening. These results justify unifying the program in the UAE and preventive programs like premarital screening and genetic counseling.

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Optimal Genetic Screening for Cystic Fibrosis

Operations Research ◽

10.1287/opre.2021.2134 ◽

2021 ◽

Author(s):

Hussein El Hajj ◽

Douglas R. Bish ◽

Ebru K. Bish

Keyword(s):

Cystic Fibrosis ◽

Genetic Variants ◽

Genetic Screening ◽

Genetic Diseases ◽

The United States ◽

Published Data ◽

Decision Support Model ◽

Screening Process ◽

Public Health Initiative ◽

Cystic Fibrosis Screening

Improving Newborn Screening for Genetic Diseases Screening newborns for life-threatening genetic diseases is an important public health initiative. Cystic fibrosis is one of the most prevalent diseases in this context. As part of the cystic fibrosis screening process, all states in the United States use multiple tests, including genetic tests that detect a subset of the more than 300 genetic variants (specific mutations) that cause cystic fibrosis. In “Optimal Genetic Screening for Cystic Fibrosis,” El-Hajj, D.R. Bish, and E.K. Bish develop a decision support model to select which genetic variants to screen for, considering the trade-off between classification accuracy and testing cost, and the technological constraints that limit the number of variants selected. Because variant prevalence rates are highly uncertain, a robust optimization framework is developed. Further, two commonly used cystic fibrosis screening processes are analytically compared, and conditions under which each process dominates are established. A case study based on published data are provided.

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The impact of contemporary preimplantation genetic screening and diagnosis on the detection of aneuploidy and inherited genetic diseases

Birth Defects Research ◽

10.1002/bdr2.1220 ◽

2018 ◽

Vol 110 (8) ◽

pp. 644-647

Author(s):

Shelby A. Neal ◽

Marie D. Werner

Keyword(s):

Genetic Screening ◽

Genetic Diseases ◽

Preimplantation Genetic Screening ◽

The Impact ◽

Screening And Diagnosis

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Evolution of cyclizing 5-aminolevulinate synthases in the biosynthesis of actinomycete secondary metabolites: outcomes for genetic screening techniques

Frontiers in Microbiology ◽

10.3389/fmicb.2015.00814 ◽

2015 ◽

Vol 6 ◽

Cited By ~ 10

Author(s):

Kateřina Petříčková ◽

Alica Chroňáková ◽

Tomáš Zelenka ◽

Tomáš Chrudimský ◽

Stanislav Pospíšil ◽

...

Keyword(s):

Secondary Metabolites ◽

Genetic Screening ◽

Screening Techniques

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Ethical Aspects of Genetic Screening in Israel

Science in Context ◽

10.1017/s0269889700003112 ◽

1998 ◽

Vol 11 (3-4) ◽

pp. 419-429 ◽

Cited By ~ 11

Author(s):

Michal Sagi

Keyword(s):

World Health Organization ◽

Genetic Screening ◽

Genetic Diseases ◽

Genetic Research ◽

Carrier Screening ◽

World Health ◽

Ethical Aspects ◽

The World ◽

Health Organization

The ArgumentAdvances in genetic research make it possible to identify carriers of a growing number of genetic diseases. The World Health Organization (WHO) published several preconditions for community carrier screening. This paper aims to present some of the dilemmas about screening in Israel and the difficulties in following the WHO's helpful criteria.

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The Perception of Premarital Genetic Screening within Young Jordanian Individuals

Public Health Genomics ◽

10.1159/000517162 ◽

2021 ◽

pp. 1-7

Author(s):

Zaid Altaany ◽

Omar F. Khabour ◽

Karem H. Alzoubi ◽

Almuthanna K. Alkaraki ◽

Ghaith Al-Taani

Keyword(s):

Genetic Screening ◽

Positive Attitude ◽

Genetic Disorders ◽

Genetic Diseases ◽

Female Gender ◽

University Education ◽

High Rate ◽

Cross Sectional ◽

Convenience Sample ◽

The Government

Background: During the past two decades, the attention of public health has been drawn to premarital genetic screening (PGS) programs to reduce birth defects and avoid genetic disorders. In Jordan, the high rate of genetic hemoglobinopathies compelled the government to implement an obligatory PGS program before marriage. Therefore, the objective of this study was to investigate the knowledge, opinion, and practice of young Jordanians concerning PGS. Methods: Using a pretested questionnaire, this cross-sectional study was conducted on a convenience sample from Jordan. The measures included respondents’ demographics, and beliefs/opinions regarding PGS. Results: A total of 432 participants completed the survey. The majority (87.8%) had a positive attitude toward PGS program. Reasons behind this positive attitude were preventing transmission of genetic diseases, reducing family breakdown/psychosocial problems, and financial burdens of having a child with genetic disease. In fact, 49.8% of participants were willing to change their marriage decision in case of receiving incompatible results. Moreover, most of the participants (75.1%) demanded the implementation of a law that prohibits incompatible marriages. A positive attitude toward PGS was found to be associated with female gender and having a university education. Conclusions: Young Jordanians have a positive attitude toward the implementation of PGS. Yet, educational programs should be drawn up to the target population before getting married emphasizing the important role of PGS in the wellness of the community.

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Preimplantation genetic screening: Changes in technology and methodology, ethical implications, and areas of future research

SURG Journal ◽

10.21083/surg.v11i0.4153 ◽

2019 ◽

Vol 11 ◽

Author(s):

April Lynn Vanderwal

Keyword(s):

Genetic Screening ◽

Ethical Issues ◽

Genetic Diseases ◽

Embryo Implantation ◽

Preimplantation Genetic Screening ◽

Future Research ◽

Comparative Genomic ◽

Dna Testing ◽

Ethical Implications

Advances made in the field of genetics have positively contributed to the ability to screen for genetic diseases. Preimplantation genetic screening (PGS) is a type of Reproductive Genetic Screening that involves day 5 embryo biopsies and DNA testing prior to embryo implantation in the uterus. Historically, this DNA testing was performed using fluorescent in situ hybridization. However, this was deemed ineffective, so new procedures involving methods such as array comparative genomic hybridization and real time polymerase chain reaction have been implemented. As PGS technology develops, ethical issues arise, as well as a need for further research.

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Employment Discrimination Implications of Genetic Screening in the Workplace under Title VII and the Rehabilitation Act

American Journal of Law & Medicine ◽

10.1017/s0098858800010078 ◽

1984 ◽

Vol 10 (3) ◽

pp. 323-347

Author(s):

Edith F. Canter

Keyword(s):

Civil Rights ◽

Genetic Screening ◽

Employment Discrimination ◽

Title Vii ◽

Rehabilitation Act Of 1973 ◽

Employment Opportunities ◽

Screening Techniques ◽

Civil Rights Act ◽

Workplace Environments ◽

Rehabilitation Act

AbstractThe emergence of genetic screening techniques will permit employers to exclude hypersusceptible individuals from potentially hazardous workplace environments. The denial of employment opportunities to these individuals, however, may constitute discrimination. This Note analyzes genetic screening cases with respect to currently available remedies contained in Title VII of the Civil Rights Act of 1964 and the Rehabilitation Act of 1973. The Note concludes that Title VII claims may succeed but only in limited circumstances and that Rehabilitation Act claims will encounter numerous obstacles to relief. Additionally, the Note discusses some of the implications of the use of genetic screening in the workplace.

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