Genomic Medicine Master of Science (M.S.) Degree Program

As DNA sequencing becomes faster and cheaper, utilization of whole exome sequencing (ES) and whole genome sequencing (GS) as a diagnostic tool has become widespread. It is essential that physicians understand when these tests should be ordered, how to interpret and use the test results including variants of uncertain

significance and secondary findings, and understand the ethical, legal and social issues generated by these results. Recent surveys of medical students at Johns Hopkins University School of Medicine (JHUSOM) revealed a desire to learn more about genetic testing and its broad application to clinical medicine. To this end, we

developed the Genomic Medicine Translational Science course (Genomic Medicine TS course) for the 3rd and 4th year JHUSOM medical students. This active learning course consists of three 5-hour days during intersession of the academic years with the objectives of improving the medical students’ understanding of ES

and GS. From 2017 to 2022, 296 students took the Genomic Medicine elective. To achieve the course objectives, we developed (and made freely available) the PhenoDB Teaching Tool with accompanying phenotypic and ES data to be analyzed as proband only, in a family setting or cohorts of patients with a particular phenotype. Since

2015, we have used the Genomic Medicine TS course curriculum, tools and resources to teach in the annual McKusick Short Course offered collaboratively by the Jackson Laboratory and JHUSOM. In 2021, with the Brazilian Society of Medical Genetics, we used these materials to teach >350 participants from South America

and Europe. In 2022, we guided the faculty at UNIFESP on implementing the Genomic Medicine course curriculum to teach 36 medical and graduate students and postdocs in that Institution. A much more in-depth Genomic Medicine education, as provided by a M.S. degree, would prepare the trainees for careers analyzing the human genome in academic research centers, government, and industry,

including biotechnology firms, pharmaceutical companies, and clinical laboratories. It would also help clinical guideline developers provide evidence-based genetic/genomic interpretation to properly use genomic information for patient health care decision-making. Thus, there is a great need for master’s education programs

that provide health professional and related trainees with the knowledge and skills required to manipulate, annotate, and interpret human genome data, and a foundation for pursuing genomics research. To address this need, we will leverage our evolving expertise in analysis of genomic data and education (Nara Sobreira, Joann

Bodurtha, David Valle, Weiyi Mu, Nancy Hueppchen, Kim Doheny, Winston Timp, Xiao Peng, Jim Stevenson, Dane Witmer, Carolyn Applegate) and the unique tools and resources available at JHUSOM such as the ones offered by the Office of Online Education (Robert Kearns), by the Johns Hopkins Advanced Academic Programs

(Robert Lessick), and PhenoDB Teaching Tool to develop a Genomic Medicine M.S. program that will address the expanding need for genomic literacy and create opportunities for these individuals to train others.