Medical Genomics Research Spotlight: Get to Know Dr. Jordan Lerner-Ellis

Dr. Jordan Lerner-Ellis heads the Advanced Molecular Diagnostics Laboratory at Mount Sinai Hospital Toronto, a role that fulfills a longstanding passion for the field of genetics. Dr. Lerner-Ellis recalls being curious about genetics from a young age. As an identical twin, he was always interested in the commonalities and differences between humans. Perhaps surprisingly, he didn’t pursue science right away: “I started off in the jazz program at Concordia University.” After one year of the jazz program, he made the switch to the biological sciences.

Having done his PhD at McGill University in Human Genetics, he continued his research in Switzerland before moving to the United States. There he completed a postdoctoral fellowship at Harvard University, Massachusetts General Hospital, and the Broad Institute, where he studied common complex diseases like type 2 diabetes. Subsequently, Dr Lerner-Ellis completed specialized training in clinical molecular genetics at Harvard Medical School and was certified by the American Board of Medical Genetics and Genomics (ABMGG). Since 2011 he has directed the clinical diagnostic laboratory at Mount Sinai and leads a number of research projects including a large-scale CIHR-funded COVID-19 genomics study looking at the relationship between genetics and immunity at the Lunenfeld-Tanenbaum Research Institute at Sinai Health.

After completing his ABMGG molecular genetics board certification, Dr Lerner-Ellis took a position at Mount Sinai Hospital as director of the Advanced Molecular Diagnostics Laboratory that conducts hereditary and somatic cancer clinical genetic testing for the province of Ontario. “My job is to make sure that the laboratory is accredited, that tests are appropriately validated, signing off on all the standard operating procedures for the lab and to interpret and sign off on the test reports that go to ordering physicians and patients.” This more clinically involved role takes up most of Dr. Lerner-Ellis’ time, and the rest of his time is spent on genome and exome sequencing for diagnosis and gene discovery research. Most recently, Lerner-Ellis has been exploring the usage of genetic sequencing to screen ostensibly healthy populations, as the lead on the ‘GENCOV study’ investigating COVID-19.

The GENCOV study aims to better describe the complex interplay between genetics and immunity by way of host genome sequencing, SARS-CoV-2 viral genome sequencing, and serology testing at multiple time points. From leveraging this genomic and immunological data and identifying connections to outcomes such as severity of COVID-19 disease symptoms, Dr Lerner-Ellis and colleagues hope to better understand the relationship between genetics and immunity and to implement novel serological and molecular tools to inform management for patients with COVID-19. One of the unique aspects of the ongoing GENCOV study is the return of results to nearly 1500 participants: “A genetic counsellor on staff is responsible for pre- and post-test counseling and interacts directly with participants to return both serology and genetic results.” Genomic reports produced by the GENCOV study return ‘clinically actionable’ findings to the patient, as well as ancestry, pharmacogenomic variants, HLA status (an important immune system marker), expanded blood group genotypes, and polygenic risk scores calculated for six different disorders, including type 2 diabetes, coronary artery disease, atrial fibrillation, breast cancer (calculated for XX females only), prostate cancer (calculated for XY males only), and colon cancer. He notes, “we’re really trying to figure out, what does this set of genomic results reveal to the patient? [And] how do they use that information and how does that impact the healthcare system?” The GENCOV study has “one of the most comprehensive genomic reports available” that are being returned to study participants and Dr. Lerner-Ellis hopes to expand reporting approaches to return other risk factor variants in the future.

Importantly, there is still a lot we don’t know about the human genome. Of the 20,000 known coding genes in the human genome, only about 5,000 have a known gene-disease relationship. For this reason, Lerner-Ellis considers genomics a burgeoning field: “There have been so many new developments in recent years and there’s still so much we don’t know.” He continued, “today genetic testing is routinely being applied to support the diagnosis of individuals with underlying conditions like cardiomyopathies or hereditary cancers and can help inform the management and treatment of these conditions like increased surveillance or prophylactic surgery.” Dr. Lerner-Ellis spoke further about the utility of genome sequencing for cancer patients, saying: “There are a lot of new therapies now for which having a genetic variant might make you eligible and more responsive to one or another different drug, so that’s also how [genetic] information is being used clinically.” While most of genetics today is applied in the context of confirming a clinical diagnosis and determining the underlying molecular mechanism of disease for a patient with an underlying condition, more recent applications of genomics include screening of healthy individuals: “I think more and more people are interested in their genome, either from a recreational point of view or to explain a previously undiagnosed underlying condition and it can be beneficial knowing whether or not you have something that’s treatable or manageable.”

Many medical genomics master’s students and alumni have been involved in the GENCOV study, performing variant interpretation under the supervision of Dr. Lerner-Ellis. When asked about his experience working with these students, Jordan responded candidly: “We just have thousands of variants that need assessment and many informatic projects, so it’s been a good opportunity for the MedGen students to get training in that area and it’s definitely been a nice symbiotic relationship in that way.” Dr Lerner-Ellis feels there is a shortage of people in the field of medical genomics and emphasized how expansive the field is with its various sub-specialty areas: “Genomics is currently being applied to a wide range of basic science research, anything from bioassays to better understand biology and metabolic pathways to CRISPR related wet lab experiences, through to bioinformatic and coding related work to interpretation and reporting. I think there’s a lot of opportunity for anyone based on what their specific area of interests are.” In addition to taking on MedGen students as volunteers, Lerner-Ellis’ lab is recognized as an official capstone practicum site.

We would like to thank Dr. Jordan Lerner-Ellis for supporting so many MHSc Medical Genomics students and wish him continued success with his research.