We are all born with a unique collection of genes that we inherit from our parents and ancestors. The genes are made of DNA, and they are considered the blueprint of our bodies. They are distributed on 46 chromosomes that are present in every cell of our body. The genes code for the proteins that are the building blocks of our cells and organs. They determine our physical features as well as our inherent strengths and weaknesses.
Stemming from this, genetic testing is gaining recognition for the many advantages it has to offer in the prevention, management and treatment of disease. Among their many uses, genetic tests most commonly present an opportunity for individuals to become informed about their genetic predisposition to disease, and for couples to be aware of the possible genetic characteristics of their unborn children.
But what is genetic testing? And why is it important? Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.
Although genetic testing is still in its early stages, it has been available at AUBMC since 2002 with a test menu that covers several disciplines. The diagnostic laboratories cover a wide range of tests including molecular microbiology, genetics, molecular pathology, and molecular histocompatibility testing with a major aim to diagnose, prognosticate and follow the treatment modalities in what is commonly known as minimal residual disease analysis.
Genetic testing, at AUBMC, is used to identify unknown syndromes in babies or newborns, to determine the risk of giving children a disease that runs in the family and to determine if a fetus has any chromosomal abnormalities that would lead to Down syndrome or other disorders. In oncology, genetic testing is used to understand the type and nature of cancer that a patient has and offer the best treatment, as well as calculate the risk of developing certain cancers like breast cancer or colon cancer.
However, the most advanced form of genetic testing is using the technology of Next Generation Sequencing or NGS. NGS has the capability of looking at hundreds or even thousands of changes in our DNA in a single test and therefore has several folds of specificity and accuracy over conventional tests.
Understanding our genetic makeup, and the changes that occur in diseases, is opening the door to a new era in medicine, called Precision Medicine. In precision medicine, genetic testing is allowing doctors to determine the best medication for an individual, or understand their patients’ risks for conditions such as cardiovascular disease or diabetes or even cancer, and treat them accordingly. The treatment is therefore precise to the individual’s genetic background that is why it is called precision medicine.
The American University of Beirut Medical Center is the first in the region to set the ground for precision medicine by establishing the Pillar Genomics Institute of Precision Medicine. This institute will revolutionize the way diseases are treated, linking advanced research and next-generation sequencing in the laboratory to the patient's bedside. Using precision medicine will translate research breakthroughs into the most advanced therapies for patients. The institute will further transform AUBMC to become a cutting-edge medical research hub that will explore the new frontier of precision medicine.
Director of Molecular Diagnostics Laboratory, Dr. Rami Mahfouz, explains how in the new era of Precision Medicine, state-of-the-art technology like next generation sequencing is making its way on solid ground to both the research and diagnostic areas at AUB and AUBMC. “This breakthrough technology is of utmost importance for clinicians who will use its results to tailor targeted therapy according to the genotype-phenotype correlation. Our research teams will have a venue to discover new sequence variations in our genomic material and correlate it with clinical outcomes through clinical and genomic studies involving large numbers of patients”, he adds.
As part of its 2020 mission, AUBMC aims, through the establishing of the PGI for Precision Medicine, to become a local and regional leader in offering these tests to patients without the hassle of shipping samples overseas and waiting for results. Furthermore the leadership at AUBMC strives to make these tests more affordable and accessible to patients by bringing this service in house at the medical center.
