scholarly journals Responsiveness of Arab Women in Israel to Genetic Screening Tests Prior to/during Pregnancy

2020 ◽  
Vol 3 (2) ◽  
pp. p24
Author(s):  
Sara Gabarin

Hereditary morbidity is a severe health problem in the Muslim Arab society in Israel. There are populations where the prevalence of the Mendelian type hereditary diseases is 1 in 4 or 5 residents (Al Aqeel, 2007). One of the reasons for this is the high prevalence of relation marriage, which as of 2009 accounted for 24% of all marriages (Na’amnih et al., 2015). Despite this high prevalence, responsiveness to performing hereditary screening tests in Israel is very low among Arab women. For example, in performing Fragile X screening tests, only 9.1% of Arab women reported having performed the test, compared to 52% of Jewish women (Romano-Zlicha & Shochat, 2011).

2020 ◽  
Vol 3 (3) ◽  
pp. p1
Author(s):  
Sara Gabaren

Hereditary diseases are a known factor in the world to mortality and morbidity of infants. The frequency of these diseases characterizes specific population segments more than others. Acknowledging the efficiency and profitability of performing screening tests, raises the question of Arab women’s low responsiveness to perform the hereditary screening tests comparing to Jewish women and in general.


2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Manfred S. Green ◽  
Rania Abdullah ◽  
Shiraz Vered ◽  
Dorit Nitzan

Abstract Background Vaccines for COVID-19 are currently available for the public in Israel. The compliance with vaccination has differed between sectors in Israel and the uptake has been substantially lower in the Arab compared with the Jewish population. Aim To assess ethnic and socio-demographic factors in Israel associated with attitudes towards COVID-19 vaccines prior to their introduction. Methods A national cross-sectional survey was carried out In Israel during October 2020 using an internet panel of around 100,000 people, supplemented by snowball sampling. A sample of 957 adults aged 30 and over were recruited of whom 606 were Jews (49% males) and 351 were Arabs (38% males). Results The sample of Arabs was younger than for the Jewish respondents. Among the men, 27.3% of the Jewish and 23.1% of the Arab respondents wanted to be vaccinated immediately, compared with only 13.6% of Jewish women and 12.0% of Arab women. An affirmative answer to the question as to whether they would refuse the vaccine at any stage was given by 7.7% of Jewish men and 29.9% of Arab men, and 17.2% of Jewish women and 41.0% of Arab women. Higher education was associated with less vaccine hesitancy. In multiple logistic regression analysis, the ethnic and gender differences persisted after controlling for age and education. Other factors associated with vaccine hesitancy were the belief that the government restrictions were too lenient and the frequency of socializing prior to the pandemic. Conclusions The study revealed a relatively high percentage reported would be reluctant to get vaccinated, prior to the introduction of the vaccine. This was more marked so for Arabs then Jews, and more so for women within the ethnic groups. While this was not a true random sample, the findings are consistent with the large ethnic differences in compliance with the vaccine, currently encountered and reinforce the policy implications for developing effective communication to increase vaccine adherence. Government policies directed at controlling the pandemic should include sector-specific information campaigns, which are tailored to ensure community engagement, using targeted messages to the suspected vaccine hesitant groups. Government ministries, health service providers and local authorities should join hands with civil society organizations to promote vaccine promotion campaigns.


2021 ◽  
Vol 15 (2) ◽  
pp. 313-341
Author(s):  
Alon Jasper

Abstract This article examines the role bureaucracy has in enhancing the social diversity of judiciaries. It does so by analyzing the Israeli judiciary and its reforms over the last three decades, and the interaction of these reforms with the appearance of intersectional judges—Arab women, Jewish women of Orthodox background, and Jewish women from geographic and economic peripheries—into the Israeli judiciary. Based on an original empirical study, the article shows that the career paths of intersectional judges include administrative roles in the judiciary more often than non-intersectional judges. The article further demonstrates how these administrative career paths were shaped by bureaucratic-minded reforms. The Israeli case study thus shows how the bureaucratic design of the judiciary can accommodate diversity efforts, sometimes unintendedly, and discusses the merits, boundaries, and drawbacks of such bureaucratic design.


2012 ◽  
Vol 66 (1-2) ◽  
pp. 41-47
Author(s):  
Sasa Vasilev ◽  
Jelena Cvetkovic ◽  
Ivana Radovic ◽  
Ljiljana Sofronic-Milosavljevic

Serbia is country with a high prevalence of Trichinella infection in pigs, which continues to be a serious human health problem. In Serbia, only a few isolates of Trichinella found in pork have been genetically specified to date, and all were proven as T. spiralis. New data shows that in the sylvatic cycle in Serbia, at least in the Belgrade district, more than one Trichinella species co-exist (T. spiralis and T. britovi). Increased awareness of the possible overlap among sylvatic and domestic Trichinella cycles indicates the need for continuous monitoring of Trichinella species circulation and strongly points to the need that all isolates of Trichinella found in meat for human consumption should be subject to a determination of the Trichinella species (due to the risk of transmission of infection with T. britovi to domestic pigs and humans). This is why we examined using PCR the Trichinella larvae found in pig meat that caused a human outbreak (Trichinella infection) in Grocka (Belgrade district) during February 2011. The isolated larvae belonged to T. spiralis.


2019 ◽  
Author(s):  
Jill Hagenkord ◽  
Birgit Funke ◽  
Emily Qian ◽  
Madhuri Hegde ◽  
Kevin B Jacobs ◽  
...  

Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities and protocols to develop screening tests are well-established. However, the application of screening principles to inherited diseases presents unique challenges. Unlike most screening tests, the natural history and disease prevalence of most rare inherited diseases in an unselected population are unknown. It is difficult or impossible to obtain a “truth set” cohort for clinical validation studies. As a result, it is not possible to accurately calculate clinical positive and negative predictive values for “likely pathogenic” genetic variants, which are commonly returned in genetic screening assays. In addition, many of the genetic conditions included in screening panels do not have clinical confirmatory tests. All of these elements are typically required to justify the development of a screening test, according to the World Health Organization screening principles. Nevertheless, as the cost of DNA sequencing continues to fall, more individuals are opting to undergo genomic testing in the absence of a clinical indication. Despite the challenges, reasonable estimates can be deduced and used to inform test design strategies. Here, we review test design principles and apply them to genetic screening.


2019 ◽  
Author(s):  
Jill Hagenkord ◽  
Birgit Funke ◽  
Emily Qian ◽  
Madhuri Hegde ◽  
Kevin B Jacobs ◽  
...  

Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities and protocols to develop screening tests are well-established. However, the application of screening principles to inherited diseases presents unique challenges. Unlike most screening tests, the natural history and disease prevalence of most rare inherited diseases in an unselected population are unknown. It is difficult or impossible to obtain a “truth set” cohort for clinical validation studies. As a result, it is not possible to accurately calculate clinical positive and negative predictive values for “likely pathogenic” genetic variants, which are commonly returned in genetic screening assays. In addition, many of the genetic conditions included in screening panels do not have clinical confirmatory tests. All of these elements are typically required to justify the development of a screening test, according to the World Health Organization screening principles. Nevertheless, as the cost of DNA sequencing continues to fall, more individuals are opting to undergo genomic testing in the absence of a clinical indication. Despite the challenges, reasonable estimates can be deduced and used to inform test design strategies. Here, we review test design principles and apply them to genetic screening.


2007 ◽  
Vol 14 (3) ◽  
pp. 299-303 ◽  
Author(s):  
C. Ramírez-Pfeiffer ◽  
K. Nielsen ◽  
P. Smith ◽  
F. Marín-Ricalde ◽  
C. Rodríguez-Padilla ◽  
...  

ABSTRACT The screening Rose Bengal test (RBT), the buffered plate agglutination test (BPAT), and the confirmatory complement fixation test (CFT) are currently approved by the World Organization for Animal Health (OIE) for diagnosis of goat brucellosis. However, RBT (at 3% or 8% cell concentration) is known to be affected by vaccinal antibodies. In the present study, Mexican and Canadian OIE tests were compared with the fluorescence polarization assay (FPA), alone or in combination, using indirect and competitive enzyme-linked immunosorbent assays as classification variables for goat sera obtained from an area of high prevalence and widespread vaccination. The relative sensitivities and specificities were, respectively, 99.7% and 32.5% for RBT3, 92.8% and 68.8% for RBT8, 98.4% and 84.8% for Canadian CFT, 83.7% and 65.5% for Mexican CFT, and 78.1% and 89.3% for FPA. The use of FPA as the confirmatory test in combination with other tests significantly increased the final specificities of the screening tests alone; BPAT, RBT3, and RBT8 plus FPA resulted in final specificities of 90%, 91.2%, and 91.3%, respectively, whereas for the combinations RBT3 plus Mexican CFT, RBT8 plus Mexican CFT, and BPAT plus Canadian CFT, specificities were 65.5%, 63.2%, and 91.7%, respectively. We suggest that FPA may be routinely applied as an adaptable screening test for diagnosis of goat brucellosis and as a confirmatory test for screening test series. Some advantages of FPA are that its cutoff can be adjusted to improve its sensitivity or specificity, it is a low-cost and easy-to-perform test of choice when specificity is relevant or when an alternative confirmatory test is not available, and it is not affected by vaccination, thus reducing the number of misdiagnosed and killed goats.


1999 ◽  
Vol 17 (2) ◽  
pp. 494-494 ◽  
Author(s):  
Victor R. Grann ◽  
William Whang ◽  
Judith S. Jacobson ◽  
Daniel F. Heitjan ◽  
Karen H. Antman ◽  
...  

PURPOSE: To determine the survival benefit and cost-effectiveness of screening Ashkenazi Jewish women for three specific BRCA1/2 gene mutations. METHODS: We used a Markov model and Monte Carlo analysis to estimate the survival benefit and cost-effectiveness of screening for three specific mutations in a population in which their prevalence is 2.5% and the associated cancer risks are 56% for breast cancer and 16% for ovarian cancer. We assumed that the sensitivity and specificity of the test were 98% and 99%, respectively, that bilateral prophylactic oophorectomy would reduce ovarian cancer risk by 45%, and that bilateral prophylactic mastectomy would reduce breast cancer risk by 90%. We used Medicare payment data for treatment costs and Surveillance, Epidemiology, and End Results data for cancer survival. RESULTS: Our model suggests that genetic screening of this population could prolong average nondiscounted survival by 38 days (95% probability interval, 22 to 57 days) for combined surgery, 33 days (95% probability interval, 18 to 43 days) for mastectomy, 11 days (95% probability interval, 4 to 25 days) for oophorectomy, and 6 days (95% probability interval, 3 to 8 days) for surveillance. The respective cost-effectiveness ratios per life-year saved, with a discount rate of 3%, are $20,717, $29,970, $72,780, and $134,273. CONCLUSION: In this Ashkenazi Jewish population, with a high prevalence of BRCA1/2 mutations, genetic screening may significantly increase average survival and, depending on costs and screening/treatment strategies, may be cost-effective by the standards of accepted cancer screening tests. According to our model, screening is cost-effective only if all women who test positive undergo prophylactic surgery. These estimates require confirmation through prospective observational studies and clinical trials.


2020 ◽  
Vol 32 (4) ◽  
pp. 549-555
Author(s):  
Nüket Bilgen ◽  
Merve Bişkin Türkmen ◽  
Bengi Çınar Kul ◽  
Sevim Isparta ◽  
Yusuf Şen ◽  
...  

Polycystic kidney disease (PKD) is one of the most common hereditary diseases in cats, with high prevalence in Persian and Persian-related cats. PKD is caused mainly by an inherited autosomal dominant (AD) mutation, and animals may be asymptomatic for years. We screened 16 cats from various breeds exhibiting a renal abnormality by ultrasound examination and genotyped them for the c.10063C>A transversion on exon 29 of the polycystin-1 ( PKD1) gene, by PCR–restriction fragment length polymorphism (PCR-RFLP). Among these cats, a Siamese nuclear family of 4 cats with ancestral hereditary renal failure were screened by whole-genome sequencing (WGS) to determine novel variations in genes associated with both AD and autosomal recessive PKD in humans. During the study period, one cat died as a result of renal failure and was forwarded for autopsy. Additionally, we screened 294 cats asymptomatic for renal disease (Angora, Van, Persian, Siamese, Scottish Fold, Exotic Shorthair, British Shorthair, and mixed breeds) to determine the prevalence of the mutation in cats in Turkey. Ten of the symptomatic and 2 of the asymptomatic cats carried the heterozygous C → A transversion, indicating a prevalence of 62.5% and 0.68%, respectively. In the WGS analysis of 4 cats in the Siamese nuclear family, novel variations were determined in the fibrocystin gene ( PKHD1), which was not compatible with dominant inheritance of PKD.


2015 ◽  
Vol 88 (3) ◽  
pp. 288-292 ◽  
Author(s):  
Diana Miclea ◽  
Loredana Peca ◽  
Zina Cuzmici ◽  
Ioan Victor Pop

Genetic factors are responsible for up to 40 % developmental disability cases, such as global developmental delay/ intellectual disability (GDD/DI). The American and more recently, the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI. 


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