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A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

ABSTRACT: The review lists the genetic diseases reported in Lebanese individuals, surveys genetic programs and services, and highlights the absence of basic genetic health services at the individual and community level. The incidence of individual diseases is not determined, yet the variety of genetic diseases reported is tremendous, most of which follow autosomal recessive inheritance reflecting the social norms in the population, including high rates of consanguinity, which favor the increase in incidence of these diseases. Genetic services including all activities for the diagnosis, care, and prevention of genetic diseases at community level are extremely inadequate. Services are limited to some clinical and laboratory diagnostic services with no genetic counseling. These services are localized within the capital thus preventing their accessibility to high-risk communities. Screening programs, which are at the core of public health prevention services, are minimal and not nationally mandated. The absence of adequate genetic services is attributed to many factors undermining the importance of genetic diseases and their burden on society, the most important of which is genetic illiteracy at all levels of the population, including high-risk families, the general public, and most importantly health care providers and public health officials. Thus, a country like Lebanon, where genetic diseases are expected to be highly prevalent, is in utmost need for community genetics services. Strategies need to be developed to familiarize public health officials and medical professionals with medical genetics leading to a public health infrastructure that delivers community genetics services for the prevention and care of genetic disorders at community level.

SUBMITTER: Nakouzi G

PROVIDER: S-EPMC4286563 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature

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A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Nakouzi Ghunwa G Kreidieh Khalil K Yazbek Soha S

Journal of community genetics 20140927 1

The review lists the genetic diseases reported in Lebanese individuals, surveys genetic programs and services, and highlights the absence of basic genetic health services at the individual and community level. The incidence of individual diseases is not determined, yet the variety of genetic diseases reported is tremendous, most of which follow autosomal recessive inheritance reflecting the social norms in the population, including high rates of consanguinity, which favor the increase in inciden ...[more]

PMID: 25261319

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Project description:BackgroundBladder cancer (BC) is the 10th most frequent tumor worldwide. Evidence shows an association between elevated risk of BC and various single nucleotide polymorphisms (SNP). BC incidence was the highest in Lebanon according to Globocan 2018 report, but little is known about the genetic susceptibility of Lebanese people to this disease. We aim to evaluate whether this prominent incidence of BC in Lebanon is attributable to known coding genetic variants.MethodsA case-control study was conducted at Hotel-Dieu de France Hospital, Beirut. A cohort of 51 Lebanese patients with BC were recruited between 2017 and 2020. Whole Exome Sequencing (WES) was performed on peripheral blood samples to detect coding genetic variants in the patients. An in-house database including WES data from 472 Lebanese individuals served as control. Literature review of the genetic predisposition to BC was conducted to establish a database of variants known to influence the risk of BC. In-common SNPs were identified between cases and the aforecited database, and their allelic frequencies was quantified in the former and in controls. Comparative analysis of the allelic frequencies of each in-common SNP was carried out between cases, controls, and the genome aggregation database (gnomAD). Analysis was performed by applying the binomial law and setting the p-value to 10- 10.Results484 polymorphisms associated with BC were extracted from the literature review ;151 of which were in-common with the 206 939 variations detected by WES in our cases. Statistically significant differences (p-value < 10- 10) in allelic frequencies was seen in 11 of the 151 in-common SNPs, but none of which corresponds with a higher BC risk. Moreover, rs4986782 variant in the NAT1 gene is not associated with BC in the Lebanese population. `.ConclusionThis is the first next-generation sequencing (NGS)- based study investigating BC risk in a Lebanese cohort of 51 patients. The majority of known exonic variants in the literature were not associated with BC in our patients. Further studies with larger sample sizes are warranted to explore the association of BC in our population with known non-coding genetic variants, and the remainder of WES-generated private Lebanese variants.

Project description:BackgroundDiseases of the ear, nose and throat (ENT) are common and are a major cause of morbidity and mortality. In many low income countries like Zambia, the high ENT disease burden has not received the required resources for treatment. We investigated ENT service provision in hospitals in Zambia by documenting the profile of hospitals offering ENT services and examining the country's ENT services with regards to human resource, infrastructure and availability of equipment based on the levels of care of various hospitals.MethodsThe study was a cross-sectional descriptive survey conducted using a structured and piloted questionnaire which was administered to the 109 Ministry of Health (MoH) registered hospitals across the country. Ethical clearance was granted by University of KwaZulu-Natal and the Zambia National Health Research Authority. Participation in the study was voluntary and all respondents signed informed consent. Descriptive statistics were used to analyse the data.ResultsOf the 109 hospitals approached to participate in the study, 61 (55.9%) hospitals responded. This represented 83.3% (n = 5) of Third Level Hospitals (TLH), 89.5% (n = 17) of Second Level Hospitals (SLH) and 41.7% (n = 35) of First Level Hospitals (FLH) countrywide. Of the participating hospitals, 6.6% (n = 4) were unclassified. Within this sample, 8.6% (n = 3) FLH, 11.8% (n = 2) SLH and 60.0% (n = 3) TLH had an ENT examination room. Only 2.9% (n = 4) hospitals had an audiology booth and 1.6% (n = 1) had a speech therapy room. Of the second and third level hospitals, 9.1% (n = 2) had flexible rhinolaryngoscopes, 18.2% (n = 4) had operating microscopes and 68.2% (n = 15) adenotonsillectomy sets. The data revealed that there were 4 ENT surgeons, 1 Audiologist and no Speech Therapists across the country.ConclusionZambia's ENT services were deficient at all levels of hospital care. There were deficiencies in infrastructure, human resource and equipment in hospitals. With the current burden of disease, critical intervention is required. These findings should be used to direct national policy on the improvement of ENT service provision in Zambia.

Dataset Information

A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Publications

A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

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