“This is a big step forward for the Medical Genetics Unit (UGM) team.” It is with these words that Pr Michel Scheuer, s.j., Vice-Rector and UGM Director, welcomed the acquisition of a new Next Generation Sequencing (NGS) machine, which was made official with the signing of a purchase contract on 22 September 2018 at the USJ Rectorate between Pr Salim Daccache, s.j., Rector of the University, and representatives of Illumina, Ghazi Kayyali and Jimi Goldstein. Also present were Pr Roland Tomb, Dean of the Faculty of Medicine, Pr Roger Lteif, Director of the Health and Technology Pole (PTS), Mrs. Lara Boustany, Officer in charge of business and regulatory affairs, and the UGM team: Dr. Eliane Choueiry, Dr. Cybel Mehawej, Dr. Nadine Jalkh, and Dr. Hampig Kourié.

This unit, which has been fully active in genetic disease diagnosis and and the neonatal screening of more than 30 metabolic diseases, will witness a “boost in its work, even in terms of scientific research and patient service” following this acquisition, according to Pr Scheuer.

UGM is one of the USJ Faculty of Medicine specialized university laboratories. It was founded in 1993 and declared a “pole of excellence” in the Middle East in 2004. The Unit specializes in the study of genetic diseases: chromosomal, monogenic, and complex. The UGM team consists of 22 full-time members spread over 6 units that carry out activities based on the 5 founding axes of human genetics: clinical genetics, cytogenetics, molecular genetics, functional genetics, and biochemical genetics. Every year, several members of the team participate in ongoing training sessions both in Lebanon and abroad.

UGM has several objectives: to provide families and patients with clinical and molecular diagnoses, to steer them towards therapeutic solutions when possible, to educate the medical profession on the importance of genetics in classical medicine, and to disseminate genetic knowledge to students from different Middle Eastern countries.

Since 1994, UGM members have published over 300 scientific articles in various journals. Research topics mainly revolve around rare genetic diseases and consanguinity in Lebanon.

Similarly, several clinical and molecular genetics training workshops - which include both theoretical courses and practical work, using the latest techniques - are organized yearly.

The importance of the scientific and clinical contribution of the NGS, which was highlighted by the sheer number of people present at the ceremony, was explicitly described by Dr. Eliane Choueiry: “For example, there are more than 130 genes involved in deafness. Up until 2014, a patient suffering from deafness wishing to be moleculary diagnosed had to wait years in order to get that done, seeing as the strategy was to study the case gene by gene. Now, with NGS technology, the study takes one month and the cost is considerably lower.”

“NGS,” Choueiry continued, “will give UGM the opportunity to carry out exome analyses in its premises, and so for much lower costs and with shorter deadlines. This simultaneous analysis of all genes (around 20,000) that only the UGM team was able to carry out in Lebanon (200 exomes analyzed with a diagnosis rate exceeding 50%), could not be totally completed in the Unit’s own laboratories. That has changed with the acquisition of the Next Generation Sequencing machine. Before, the procedure was to send DNA samples to the United States before the UGM could complete the analyses.”

The technological prowess of the NGS goes even further: it also includes Non-Invasive Prenatal Testing (NIPT), which is intended for pregnant women. This technique helps detect, through non-invasive screening, the risk that the fetus be carrying a kind of Trisomy: 21, 13, or 18. It also allows for the analysis of tumor profiles and of the entire genome. The list is long and confirms that this acquisition is, indeed, of major importance for genetic studies and their clinical application in Lebanon.