Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Nessrine Mezzi,Lilia Romdhane,Anissa Zaouak,Rahma Mkaouar,Sonia Abdelhak,Safa Romdhane,Faouzi Maazoul,Nadia Zitouna,Ghaith Abdessalem,Olfa Messaoud,Ridha Mrad,Cherine Charfeddine,Yosr Hamdi,Ines Ouerteni

doi:10.3390/genes12111820

Abstract

Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.

Highlights

Rare diseases (RDs) are defined differently from one jurisdiction or organization to another [1]
We present the actual situation of genetic diseases in Tunisia
We opted for the international medical classification (WHO ICD-10) of genetic diseases described in the Tunisian population

Summary

Introduction

Rare diseases (RDs) are defined differently from one jurisdiction or organization to another [1]. In the USA, a rare disease (RD) is a disease affecting fewer than 200,000 people in the population (https://rarediseases.info.nih.gov, accessed on 24 September 2021). In an attempt to define a consensus about an international definition of RD, Ritcher and his colleagues proposed a global average of. RDs imply a great global burden and a significant challenge for health systems resulting from unmatched patients’ needs and the absence of equal access to diagnosis and treatment [4]. 6000 RDs have been identified around the world (https://www.rarediseaseday.org/, accessed on 24 September 2021). 5% of them have an FDA-approved treatment (https://globalgenes.org/rare-diseasesfacts-statistics/, accessed on 24 September 2021)

Methods

Results

Discussion

Conclusion