Genetic screening for reproductive purposes at school: Is it a good strategy?

Frumkin, Ayala; Zlotogora, Joël

doi:10.1002/ajmg.a.32069

Cited by 21 publications

(19 citation statements)

References 20 publications

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“…In particular, diseases such as Tay-Sachs disease, cystic fibrosis and sickle cell anemia, which have a high prevalence among Ashkenazi Jews and ethnic groups from the Mediterranean region, as well as among European Caucasians and those from the United States, have been the focus of preventative efforts using various approaches, such as the detection of carriers of these disorders. 2,3 Disorders that are suitable to population screening are usually autosomal-recessive Mendelian disorders (AR-MDs), but are sometimes X-linked Mendelian disorders. These diseases have the following features.…”

Section: Introductionmentioning

confidence: 99%

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Song

Lee

et al. 2011

J Hum Genet

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Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic hearing loss (NSHL), glycogen storage disease type Ia (GSD Ia), phenylketonuria (PKU), congenital hypothyroidism (CH), and congenital lipoid adrenal hyperplasia (CLAH) were selected to screen for based on previous studies. A total of 3057 Koreans were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry followed by confirmation using the Sanger sequencing. We found 201 and 8 carriers with either one or two mutations in different genes, respectively, yielding a total carrier frequency of 1 in 15 (6.7%). Of the six AR-MDs, NSHL has the highest carrier frequency followed by WD, CH, CLAH, GSD Ia, and PKU. As carrier screening tests are becoming prevalent and the number of mutations known and tested is rising, a priori data on the carrier frequencies in different ethnic groups is mandatory to plan a population screening program and to estimate its efficiency. In light of this, the present results can be used as a basis to establish a screening policy for common AR-MRs in the Korean population.

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Section: Introductionmentioning

confidence: 99%

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Song

Lee

et al. 2011

J Hum Genet

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“…28,29 Although high schools offer a convenient setting for genetic screening and it has many advantages, many questions have been raised about school-based blood testing in adolescents. 30,31 As all the evaluations of these high school screening programs found that education played a critical role in providing for informed testing decisions, a better solution would be to leave the student with the option of when to perform the test outside of the convenient school-binding context. 30 In Israel, voluntary carrier genetic screening for Tay Sachs disease and thalassemia has been successfully provided for more than 25 years.…”

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confidence: 99%

A targeted population carrier screening program for severe and frequent genetic diseases in Israel

et al. 2008

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A national carrier screening program targeted at communities in which severe genetic diseases are present with a frequency higher than 1/1000 live births, has been in existence in Israel since 2002. Within the communities at risk, carrier screening is voluntary whereas genetic counseling and testing is provided free of charge. During the first 5 years of the program more than 13 000 tests were performed, and at the end of 2007 it was offered in 35 different localities/communities for a total of 36 diseases. Many of the couples identified to be at risk opted for prenatal diagnosis and in two cases an affected pregnancy was terminated. In some cases the couples declined prenatal diagnosis and two of those families gave birth to an affected child. Based on the experience learnt from this targeted screening program it appears that a knowledge-based, voluntary screening program operated within the community is an effective way to provide genetic services and test referrals. The community program directed toward couples in their reproductive period does not seem to have led to stigmatization at either the individual or the community level.

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“…Clearly, effort needs to be directed to raising community awareness about genetic screening which will assist in increasing familiarity and improving knowledge prior to the offer of screening. This could begin in high schools through facilitated discussions about genetic carrier screening and the associated risks and benefits, creating a basic framework for contemplating screening (Frumkin and Zlotogora 2008;Poppelaars et al 2003).…”

Section: Discussionmentioning

confidence: 99%

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

et al. 2016

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This study aims to explore stakeholder views about offering population-based genetic carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an indepth exploration of views and perceptions about practicalities of, and strategies for, offering carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78). The importance of raising community awareness about screening and providing appropriate support for carriers was emphasized. There was a preference for preconception carrier screening and for providing people with the opportunity to make an informed decision about screening. Primary care was highlighted as a setting which would ensure screening is accessible; however, challenges of offering screening in primary care were identified including time to discuss screening, knowledge about the test and possible outcomes, and the health professionals' approach to offering screening. With the increasing availability of genetic carrier tests, it is essential that research now focuses on evaluating approaches for the delivery of carrier screening programs. Primary healthcare is perceived as an appropriate setting through which to access the target population, and raising awareness is essential to making genetic screening more accessible to the general community.

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Genetic screening for reproductive purposes at school: Is it a good strategy?

Cited by 21 publications

References 20 publications

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

A targeted population carrier screening program for severe and frequent genetic diseases in Israel

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

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