scholarly journals The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Joël Zlotogora
Keyword(s):  
Genetic Screening ◽  
Screening Program ◽  
Severe Disease ◽  
Carrier Screening ◽  
Specific Population ◽  
Arab Population ◽  
Live Births ◽  
Israeli Population ◽  
Population Program ◽  
Genetic Carrier Screening

AbstractThe Israeli population genetic screening program for reproductive purposes, is a population-specific screening that includes all known, severe diseases and relatively frequent in a specific population (carrier frequency at or above 1:60 and/or disease frequency at or above 1 in 15,000 live births). The carrier screening program is free of charge and offers testing according to disease frequency in the different groups within the population.The extraordinary technical changes that occurred in the last decade as well as the changes in the type of marriages within the Israeli population necessitate a revision in the basis of the program.The screening should include instead of only the relatively frequent variants, all the variants that were reported among patients causing a severe disease for which the natural history is well known without regard of their frequency. The population-specific screening that determine which variants are included according to the origin of the couple should be abandoned for a general screening including either all the Jewish population or all the Israeli Arab population.

scholarly journals The Israeli national population program of genetic carrier screening for reproductive purposes

2015 ◽  
Vol 18 (2) ◽  
pp. 203-206 ◽  
Author(s):  
Joël Zlotogora ◽  
Itamar Grotto ◽  
Ehud Kaliner ◽  
Ronni Gamzu
Keyword(s):  
Carrier Screening ◽  
National Population ◽  
Population Program ◽  
Genetic Carrier Screening

scholarly journals Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program

2005 ◽  
Vol 7 (7) ◽  
pp. 484-494 ◽  
Author(s):  
Emma Warren ◽  
Rob Anderson ◽  
Anné L Proos ◽  
Leslie B Burnett ◽  
Kris Barlow-Stewart ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Cost Effectiveness ◽  
Screening Program ◽  
Carrier Screening ◽  
School Based ◽  
Genetic Carrier Screening

scholarly journals Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Xuelian Yuan ◽  
Jun Zhu ◽  
Hanmin Liu ◽  
Liangcheng Xiang ◽  
Yongna Yao ◽  
...  
Keyword(s):  
Screening Program ◽  
National Level ◽  
Recall Rate ◽  
Birth Prevalence ◽  
Live Births ◽  
Provincial Level ◽  
Tetrahydrobiopterin Deficiency ◽  
Total Prevalence ◽  
Entire Country ◽  
Northern Regions

Abstract Background Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country. Methods We analyzed data from the Chinese national screening program for HPA in newborns between 2013 and 2019. BH4D prevalence was examined by province, region and the entire country. Provincial-level prevalence was estimated from the number of confirmed BH4D cases and screened newborns, after adjusting for HPA-positive recall rate. Regional- and national-level prevalences were estimated by summing provincial-level prevalences after weighting them by the number of live births. A Poisson distribution was assumed in order to calculate 95% confidence intervals (CIs) for prevalence. Results Among 107,078,115 newborns screened for HPA in China, 380 with BH4D were identified, corresponding to a total prevalence of 3.8 per 1,000,000 live births. Prevalence was higher in eastern regions (5.9 per 1,000,000) and northern regions (4.1 per 1,000,000) of China than in southern regions (1.6 per 1,000,000) or northwestern regions (1.7 per 1,000,000). Across the entire country, 3.9% cases of HPA were diagnosed as BH4D, and this proportion reached as high as 15.1% in the southern part of the country. Conclusions These first insights into BH4D prevalence across China suggest slightly higher prevalence than in other countries, and it varies substantially by region. More attention should be paid to early diagnosis and timely treatment of BH4D.

scholarly journals The Importance of Early Detection of Genetic Diseases

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

<b><i>Background:</i></b> 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. <b><i>Objectives:</i></b> 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. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> 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. <b><i>Conclusions:</i></b> 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.

Counseling for personal health implications identified during reproductive genetic carrier screening

2021 ◽  
Author(s):  
Samantha Gbur ◽  
Logan Mauney ◽  
Kathryn J. Gray ◽  
Louise Wilkins‐Haug ◽  
Stephanie Guseh
Keyword(s):  
Carrier Screening ◽  
Personal Health ◽  
Health Implications ◽  
Genetic Carrier Screening

scholarly journals The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set

Trials ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Ebony Richardson ◽  
Alison McEwen ◽  
Toby Newton-John ◽  
Karine Manera ◽  
Chris Jacobs
Keyword(s):  
Systematic Review ◽  
Genetic Testing ◽  
Core Outcome Set ◽  
Carrier Screening ◽  
Core Outcome ◽  
The Core ◽  
Key Stakeholders ◽  
Outcome Set ◽  
Methods Of Measurement ◽  
Genetic Carrier Screening

Abstract Background Reproductive genetic carrier screening is a type of genetic testing available to those planning a pregnancy, or during their first trimester, to understand their risk of having a child with a severe genetic condition. There is a lack of consensus for ‘what to measure’ in studies on this intervention, leading to heterogeneity in choice of outcomes and methods of measurement. Such outcome heterogeneity has implications for the quality and comparability of these studies and has led to a lack of robust research evidence in the literature to inform policy and decision-making around the offer of this screening. As reproductive genetic carrier screening becomes increasingly accessible within the general population, it is timely to investigate the outcomes of this intervention. Objectives The development of a core outcome set is an established methodology to address issues with outcome heterogeneity in research. We aim to develop a core outcome set for reproductive genetic carrier screening to clarify and standardise outcomes for research and practice. Methods In accordance with guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative, this study will consist of five steps: (i) a systematic review of quantitative studies, using narrative synthesis to identify previously reported outcomes, their definitions, and methods of measurement; (ii) a systematic review of qualitative studies using content analysis to identify excerpts related to patient experience and perspectives that can be interpreted as outcomes; (iii) semi-structured focus groups and interviews with patients who have undertaken reproductive genetic carrier screening to identify outcomes of importance to them; (iv) Delphi survey of key stakeholders, including patients, clinicians, and researchers, to refine and prioritise the list of outcomes generated from the previous steps; and (v) a virtual consensus meeting with a purposive sample of key stakeholders to finalise the core outcome set for reporting. Discussion This protocol outlines the core outcome set development process and its novel application in the setting of genetic testing. This core outcome set will support the standardisation of outcome reporting in reproductive carrier screening research and contribute to an evolving literature on outcomes to evaluate genetic testing and genetic counselling as health interventions. COMET core outcome set registration http://www.comet-initiative.org/Studies/Details/1381.

Genetic carrier screening for disorders included in newborn screening in the Saudi population

2021 ◽  
pp. 1
Author(s):  
Mariam Eissa ◽  
Taghrid Aloraini ◽  
Lamia Alsubaie ◽  
Abdulrahman Alswaid ◽  
Wafaa Eyiad ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Carrier Screening ◽  
Saudi Population ◽  
Genetic Carrier Screening

scholarly journals 421. Effect of SARs-Cov-2 mRNA Vaccination in Healthcare Workers with Household COVID Exposure

2021 ◽  
Vol 8 (Supplement_1) ◽  
pp. S311-S311
Author(s):  
Laura Selby ◽  
Richard Starlin
Keyword(s):  
Healthcare Workers ◽  
Screening Program ◽  
Medical Center ◽  
Severe Disease ◽  
Academic Medical Center ◽  
Tertiary Care ◽  
Limited Data ◽  
Viral Shedding ◽  
Academic Medical ◽  
Significant Burden

Abstract Background Healthcare workers have experienced a significant burden of COVID-19 disease. COVID mRNA vaccines have shown great efficacy in prevention of severe disease and hospitalization due to COVID infection, but limited data is available about acquisition of infection and asymptomatic viral shedding. Methods Fully vaccinated healthcare workers at a tertiary-care academic medical center in Omaha Nebraska who reported a household exposure to COVID-19 infection are eligible for a screening program in which they are serially screened with PCR but allowed to work if negative on initial test and asymptomatic. Serial screening by NP swab was completed every 5-7 days, and workers became excluded from work if testing was positive or became symptomatic. Results Of the 94 employees who were fully vaccinated at the time of the household exposure to COVID-19 infection, 78 completed serial testing and were negative. Sixteen were positive on initial or subsequent screening. Vaccine failure rate of 17.0% (16/94). Healthcare workers exposed to household COVID positive contact Conclusion High risk household exposures to COVID-19 infection remains a significant potential source of infections in healthcare workers even after workers are fully vaccinated with COVID mRNA vaccines especially those with contact to positive domestic partners. Disclosures All Authors: No reported disclosures

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