Dr. Ali Hellani, PhD

Dr. Ali Hellani, PhD., is a world-renowned Reproductive Geneticist with over 15 years of experience. 1999, He obtained his PhD in molecular genetics from France. In 2001, Dr. Hellani established the first Pre-Implantation Genetic Diagnosis laboratory in the Gulf Region at King Faisal Specialist Hospital in Saudi Arabia with a grant from HRH Prince Al Waleed Bin Talal Al Saud. Dr. Hellani went on to establish the state of the art Genetic Diagnosis Lab of Saad Specialist Hospital-Al Khobar. 2010, Dr. Hellani obtained the Australian board in molecular genetics. In 2012, Dr. Hellani established the first Genetics Laboratory in the United Arab Emirates. Dr. Hellani has written over 50 publications and is a reference clinician for the screening of genetic diseases throughout the Middle East.

Dr. Hellani obtained the first CAP accreditation on exome sequencing in the Middle East in January 2017.

Title of Presentation (1)

Quality Control for NGS - CAP Experience

PGD and PGS use molecular genetic techniques to diagnose or screen embryo biopsies. Given the sensitivity and type of diagnosis (single cell diagnosis) quality control measures should be strictly adopted for a reliable diagnosis where false positives and false negatives should be minimized.

Viafet is one of the very few laboratories to have both exome and PGD diagnosis facility. Extreme precautions should be taken for the classification of the variants in exome sequencing facility that should be used for PGD diagnosis

Viafet is the first PGD lab to be CAP accredited for next generation sequencing in the Middle East early 2017. Emphasis of the presentation is on the impact of exome sequencing in further development of the PGD for single gene disorder and which mutations should be considered for screening. Wet bench and analysis pipeline quality control measurements will be all explained. A specific protocol for reporting exome sequencing should be applicable where only important variants should be reported with as minimum as possible of false negatives and false positives.

Title of Presentation (2)

Latest Updates in PGS and PGD

Pre-implantation Genetic Screening (PGS) was considered a topic of controversy when first adopted. After many years of knowledge on embryo development and technology advancement, our understanding of PGS substantially improved. Next generation sequencing (NGS) was recently introduced as a PGS option for embryo aneuploidy. We present our NGS experience on cleavage stage (day 3, 4) as well as day 5 biopsies. Result will summarize the technical aspect of single cell amplification, analysis and the age related percentage of euploid, aneuploid and chaotic embryos. NGS advantage over previous 24 chromosomes screening is the ability of adding mitochondrial assessment as an additional factor to the aneuploidy screening.

Pre-implantation Genetic Diagnosis (PGD) allows couples suffering from inherited disorders (recessive, dominant or Xlinked) to have children free of those disorders. In order to offer PGD to families in need, effective mutation screening (reliable mutation identification and short turnaround time) is a must. Before NGS, mutation screening using Sanger Sequencing was a laborious and limited approach. In many cases, testing resulted in the inability to offer PGD or invasive testing as pathogenic variants were not identified. Through the application of NGS technologies and Whole Exome Sequencing, the ability to identify new pathogenic variants and implicate new genes in the diagnosis of genetic disease is possible, opening the path for more pregnancies free of genetic disease using PGD and providing the option for prenatal testing. We present case reports where the advantage of NGS versus Sanger sequencing, allowed families to obtain children free of genetic diseases.

NGS opened a new era of genetic diseases, reproductive genetics is also getting benefits of such advantages in molecular testing allowing more accurate and reliable testing.