Genetics and Genomic Medicine in Egypt: steady pace

Temtamy, Samia A.; Hussen, Dalia Farouk

doi:10.1002/mgg3.271

Cited by 8 publications

(6 citation statements)

References 19 publications

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“…But in low‐ and middle‐income countries, clinical use of whole‐exome and whole‐genome sequencing faces many limitations and challenges: (1) centralization of medical genetics services in few urban areas; (2) few clinical geneticists (1/770,000 individuals in Brazil); (3) lack of genetic counselors; (4) lack of education in genetics and genomics in medical schools; (5) paucity of next‐generation sequencing laboratories and bioinformatic capacity; (6) no coverage for genetic testing; (7) lack of regulation of genetic testing, and (8) lack of information on genetic variation in specific populations (Ashton‐Prolla et al, 2015). Despite these limitations and challenges, whole‐exome and whole‐genome sequencing are offered in low‐ and middle‐income countries by a few commercial laboratories, as part of research in some academic centers (Temtamy & Hussen, 2017), or are outsourced to laboratories abroad (Encina et al, 2019) with local analysis and interpretation. Once again, OMIM enables advancement in genetics and genomics by allowing free online access to information that is essential to the analysis of whole‐exome and whole‐genome sequencing.…”

Section: Figurementioning

confidence: 99%

“…Therefore, freely 8) lack of information on genetic variation in specific populations (Ashton-Prolla et al, 2015). Despite these limitations and challenges, whole-exome and whole-genome sequencing are offered in low-and middle-income countries by a few commercial laboratories, as part of research in some academic centers (Temtamy & Hussen, 2017), or are outsourced to laboratories abroad (Encina et al, 2019) with local analysis and interpretation. Once again, OMIM enables advancement in genetics and genomics by allowing free online access to information that is essential to the analysis of whole- and prioritizing thousands to millions of variants identified in wholeexome and whole-genome sequencing, respectively.…”

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Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

Sobreira

Repetto

Temtamy

et al. 2021

American J of Med Genetics Pt A

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Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low‐ and middle‐income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next‐generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.

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Section: Figurementioning

confidence: 99%

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confidence: 99%

Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

Sobreira

Repetto

Temtamy

et al. 2021

American J of Med Genetics Pt A

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“…Some human genetics units had been created, especially in the pediatric departments of Ain Shams University and Cairo University, headed by the late Professors Nemat Hashem and Ekram Abdel-Salam, respectively, and one was started later at the Alexandria University Medical Research Institute by Dr. Suzan Roushdy Ismail, who had obtained her PhD in human genetics in the United Kingdom. I was determined to transfer the knowledge that I had gained in the United States to promote various health advantages by the early and accurate diagnosis, prevention, and management of genetic diseases in the Egyptian population, in whom genetic diseases have been recorded since antiquity (55). I started by collaborating with the Department of Pediatric Surgery at the Cairo University Children Hospital, headed by the late Professor Adel Lotfy, because most patients with congenital anomalies were referred to that department.…”

Section: My Return To Egyptmentioning

confidence: 99%

Untitled

2019

Annu. Rev. Genom. Hum. Genet.

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This article describes my experiences over more than 50 years in initiating and maintaining research on human genetics and genomics at the National Research Centre in Cairo, Egypt, from its beginnings in a small unit of human genetics to the creation of the Center of Excellence for Human Genetics. This was also the subject of a lecture I gave at the 10th Conference of the African Society of Human Genetics, held in Cairo in November 2017, after which Professor Michèle Ramsay, president of the society, suggested that I write an autobiographical article for the Annual Review of Genomics and Human Genetics. I hope that I succeeded in the difficult assignment of summarizing the efforts of a researcher from a developing country to initiate and maintain the rapidly advancing science of human genetics and genomics in my own country and make contributions to the worldwide scientific community.

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“…The awareness of the importance of medical genetics in Egypt was well appreciated in the early 1960s by establishing the first medical genetics units at the pediatric departments of Cairo and Ain Shams Universities ( https://www.asu.edu.eg/ce/84/page ) ( Temtamy and Hussen, 2017 ) In 1966, the specialty of Human genetics at the National Research Centre (NRC) ( https://www.nrc.sci.eg/human-genetics-genome-research-division/ ) was established and in 1967, the medical genetics unit at the Medical Research Institute (MRI) in Alexandria commenced ( https://mri.alexu.edu.eg/ ). This was followed by the establishment of medical genetics units in many other universities ( Temtamy et al, 2010 ).…”

Section: Introductionmentioning

confidence: 99%

Genomics in Egypt: Current Status and Future Aspects

et al. 2022

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Egypt is the third most densely inhabited African country. Due to the economic burden and healthcare costs of overpopulation, genomic and genetic testing is a huge challenge. However, in the era of precision medicine, Egypt is taking a shift in approach from “one-size-fits all” to more personalized healthcare via advancing the practice of medical genetics and genomics across the country. This shift necessitates concrete knowledge of the Egyptian genome and related diseases to direct effective preventive, diagnostic and counseling services of prevalent genetic diseases in Egypt. Understanding disease molecular mechanisms will enhance the capacity for personalized interventions. From this perspective, we highlight research efforts and available services for rare genetic diseases, communicable diseases including the coronavirus 2019 disease (COVID19), and cancer. The current state of genetic services in Egypt including availability and access to genetic services is described. Drivers for applying genomics in Egypt are illustrated with a SWOT analysis of the current genetic/genomic services. Barriers to genetic service development in Egypt, whether economic, geographic, cultural or educational are discussed as well. The sensitive topic of communicating genomic results and its ethical considerations is also tackled. To understand disease pathogenesis, much can be gained through the advancement and integration of genomic technologies via clinical applications and research efforts in Egypt. Three main pillars of multidisciplinary collaboration for advancing genomics in Egypt are envisaged: resources, infrastructure and training. Finally, we highlight the recent national plan to establish a genome center that will aim to prepare a map of the Egyptian human genome to discover and accurately determine the genetic characteristics of various diseases. The Reference Genome Project for Egyptians and Ancient Egyptians will initialize a new genomics era in Egypt. We propose a multidisciplinary governance system in Egypt to support genomic medicine research efforts and integrate into the healthcare system whilst ensuring ethical conduct of data.

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Genetics and Genomic Medicine in Egypt: steady pace

Abstract: Genetics and Genomic Medicine in Egypt: steady pace.

Cited by 8 publications

References 19 publications

Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

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Genomics in Egypt: Current Status and Future Aspects

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