Next generation sequencing

by MainGate Staff
Spring 2022

“How is my patient going to respond if I find that the tumor has this or that genetic change or difference? What happens to the initial tumor after the patient has been treated?” These are critical questions for Dr. Rami Mahfouz, a leader in the field of molecular diagnostics and pathology and interim director of AUB’s Pillar Genomics Institute of Precision Medicine.

His passion for new technologies surrounding genetic sequencing may well produce the “next generation” of treatments and advance the entire field of precision medicine.
Dr. Mahfouz (MD, MPH (LabM), IFCAP) describes the institute as a unique referral center in the region. “During my training at Saint Jude Children’s Research Hospital in Memphis, Tennessee, my major focus was on these new technologies and how to bring them back to Lebanon. AUBMC is still a leading center in providing the state-of-the-art technology assays.”

Next generation sequencing (NGS) is a new technology that detects the unique genetic makeup of each patient. Pathologists search for indicators, or for what Dr. Mahfouz refers to as “biomarkers,” that indicate whether the patient will be susceptible or resistant to a certain treatment. NGS identifies this unique genetic makeup and helps the physician select the precise treatment for the patient.

This new era of precision medicine will hopefully enable targeted treatment for every patient. “The benefit here is that we are offering a ‘direct therapy’—killing only the bad cells that have the genetic mutation or change while avoiding the negative side effects of regular chemotherapy, which also kills good cells. The next-generation sequencers are extremely sensitive machines that read the patient’s samples over 500 times—and in some cases, 1,000 times—delivering information with a high degree of accuracy,”
says Dr. Mahfouz. “AUBMC’s team of bioinformaticians helps read this information for diagnosis, treatment, and post-treatment evaluation of any residual disease. Our next step is promoting more assays or analyses and getting back our referrals from neighboring countries as soon as COVID-19 recedes. AUB is expanding its horizons as a research hub, positioning the Pillar Genomics Institute for booming growth in the near future,” Dr. Mahfouz explains, with “infectious” enthusiasm.