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.

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

“…A familial screening was performed and the carrier members were referred to cardiac specialist for better follow‐up. This result emphasizes the importance of genetic counselling, which unfortunately lacks strongly in Lebanon (Nakouzi et al, ).…”

“…As is the case in many developing countries, the implementation and wide adoption of NGS has been hindered mostly by the costly finances associated with establishing and running a sequencing facility as well as the lack of expertise, and the cost of such genetic services (Helmy, Awad, & Mosa, ). Lebanon suffers from a scarcity of clinical geneticists and a lack of genetic counseling services (Nakouzi et al, ). This is especially a problem, given the high number of genetic disorders in the Lebanese population (Nakouzi et al, ) and the sudden increase in the number of residents in Lebanon, given the huge influx of Syrian refugees that Lebanon has witnessed in the recent few years (UNHCR, ).…”

Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences

“…Our sequence data allowed us to scan loci linked to phenotypic traits and loci previously identified as functional variants in the Lebanese and other Levantines. 41 , 42 , 43 Using a list of 84 such variants ( Table S2 ), we estimated the allele frequency (AF) in Sidon_BA using ANGSD 26 based on a method from Li et al. 44 and calculated Pearson pairwise correlation coefficients between AF in Sidon_BA and AF in Africans, Europeans, Asians, 32 and Lebanese.…”

Recommended measures for the efficient care of patients with genetic disorders during the COVID‐19 pandemic in low and middle income countries

“…With poorly structured health systems and with the lack of well‐established genetic services, the COVID‐19 pandemic will easily exacerbate the access to care for patients with genetic disease in these countries. This article focuses on the unique challenges of providing genetic healthcare services during emergency situations in LMIC countries and provides practical preparations for this and other pandemic situations (Nakouzi, Kreidieh, & Yazbek, 2015).…”