Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review

Grant, Madison; Kabakian‐Khasholian, Tamar; Yazbek, Soha

doi:10.1007/s12687-023-00633-3

Cited by 2 publications

(2 citation statements)

References 78 publications

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“…A 2020 report defined a PKU cutoff for laboratory use to replace the kit manufacturer’s recommended cutoff, which was in use at the time in the West Bank screening laboratory [ 1436 ]. In 2021, a shortage of PKU test materials likely due to supply chain issues from the pandemic caused a backup in testing and threatened the stability of the NBS program in Gaza [ 1437 ].…”

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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“…Studies have highlighted disparities in awareness, with racial/ethnic minorities and rural populations being less informed about testing options, underscoring the underserved nature of rural communities [ 6 ]. As genetic counseling and testing become integral components of clinical care, it is critical to tailor genetic services to the cultural values of communities, as these values significantly influence the perception of genetic services [ 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Exploring Public Knowledge, Attitudes, and Barriers to Using Genetic Services in Damanhur City and Beni-Suef City, Egypt: A Cross-Sectional Study

Hafez,

Mohammed,

A. Alshehri

et al. 2024

Cureus

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Background: Advancements in genetic disorder management mark a transformative era in healthcare. This study aimed to assess knowledge, attitudes, and barriers to using genetic services among the Egyptian population. Methods: A cross-sectional study was used to achieve the aim of the study. A convenient sample was used to involve 385 residents of Damanhur City and Beni-Suef City to represent Upper and Lower Egypt. A validated questionnaire covering socio-demographic details, genetic knowledge, attitudes, and perceived barriers to using genetic services was used. Results: Regarding genetic knowledge, 70.9% of the participants reported an unsatisfactory level of knowledge about genetics. Furthermore, 67.6% expressed a negative attitude toward genetic services. Concerns about whether the test result is positive were the most common obstacle, cited by 64.94% of participants, followed by cost, which 60.78% of people found to be a major barrier. Significant associations emerge between socio-demographic factors and awareness levels. Conclusion: The findings illuminate significant gaps in knowledge and attitude levels where less than a third of the participants had a satisfactory level of knowledge and about one-third had a positive attitude regarding genetic testing. Barriers such as concerns about treatment strategies, financial constraints, and conflict with personal beliefs emerge as critical obstacles. The identified associations between socio-demographic factors and awareness levels underscore the need for targeted interventions tailored to specific demographic groups. Recommendations: This study recommends developing and implementing culturally sensitive awareness campaigns about genetics tailored to the specific demographic characteristics of the Egyptian population.

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Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review

Cited by 2 publications

References 78 publications

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Exploring Public Knowledge, Attitudes, and Barriers to Using Genetic Services in Damanhur City and Beni-Suef City, Egypt: A Cross-Sectional Study

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