The child had a puzzling collection of symptoms - he was lethargic, frequently broke out in rashes, and had trouble keeping food down - and they didn’t neatly fit into the description of any one known disease. After several rounds of testing, his doctors were left empty-handed, and frustrated. It could be that answers lay within his genome, his DNA instructions. But depending on his doctors’ experience, the thought to search there may not occur to them. And even if it did, would they know what to do next?
With support from the National Human Genome Research Institute at the National Institutes of Health, Executive Director of the Utah Genome Project, Lynn Jorde, Ph.D., is leading a program to prepare physicians and scientists to be leaders in an age of precision medicine, in which a person’s unique set of genetic instructions help guide healthcare decisions. “Right now, most physicians know very little about genomics, and most genome scientists know very little about medicine. Because of the growing importance of genomics in medicine, we need to fill this information gap,” says Jorde.
The two-year Training Program in Genomic Medicine will teach trainees practical skills for applying computational tools to discover the genetic causes of disease, for interpreting patients’ genomic information, and managing the big data that comes with it. At the heart of the program, trainees will put their skills to the test as part of a mentored research project to address unanswered questions in genomics and medicine. 32 faculty from 12 disciplines - ranging from pharmacology, to pediatrics, to biomedical informatics - will serve as mentors, helping the next generation build on University of Utah’s strong legacy in genetics research.
A critical component will be careful consideration of implications of genomics inquiries to patients, families, and society. In the case of the boy with the undiagnosed disease, does his family have realistic expectations about what could come from analyzing his DNA? Do they, and everyone involved, realize what such a finding could mean for the rest of the family? Ethicists and communications scientists will lead trainees in discussions of these and related hot-button social issues such as patient consent, and privacy.
“By creating bridges between genomics and medicine, we’ll help to realize the promise of genomics for precision medicine” says Jorde.