The MGH Center for Human Genetic Research was established with a mission of discovering and researching the human DNA sequence, identifying spelling differences within the sequence and determining how different genes and mutations affect many common and rare diseases.

With two decades of progress in research-focused discoveries, the field of genomics is now poised to enter a new clinical translation phase, where knowledge of the genome and the molecules it encodes may lead to new diagnostics, predictive tools and treatments. With this new phase, comes a new name: The Center for Genomic Medicine (CGM).

“While the important discovery work of the center continues, its new name – The Center for Genomic Medicine – signals the growth of the field from primarily genetic discovery to translational applications in medicine,” says Harry Orf, PhD, senior vice president for Research. “Now we can take what we’ve learned and translate this genetic research to directly affect medicine.”

The goal for the next few years is to assess where genomic medicine will have the greatest impact on human health and to implement genomic medicine in those clinical areas.        

“We can use knowledge of the genome to understand who, for example, is at risk for sudden cardiac death,” says Sekar Kathiresan, MD, CGM director. “The genome sequence can also be used in healthy individuals to determine potential risks and can also be used as a diagnostic in patients who are already sick to understand why.”

CGM faculty are leading studies in the emerging field of genome interpretation. Understanding how differences in human DNA sequence lead to differences in disease susceptibility may prove useful to diagnose or treat patients in the clinic. “While 99.9 percent of letters in the DNA sequence are the same between most humans, one out of 1,000 may be different,” says Kathiresan.  “The key challenge facing us is interpreting those spelling differences for clinical meaning. The field is still in its infancy.”

“Just like an MRI or a mammogram, the genome sequence may become a routine clinical test,” says Kathiresan.  “In which clinical scenarios will genome sequence prove useful for diagnosis, prognosis or therapeutic decision making? This question is a new focus we are adding to the center’s work, and the name change reflects this.”

Says Orf, “As we learn more and more, it will change how the practice of medicine takes place in the clinic. Our goal with genomic medicine is to help clinical departments. We hope to make genomics a vital tool that clinicians can use to improve diagnosis, disease management and treatments.” 

Completing the Genomic Medicine Cycle: The goal of the CGM is the dissemination of the Genomic Medicine Cycle. The cycle is a paradigm for disease research that begins by comparing human phenotypes and genetic variation to identify genes of importance in human disease, then moves on to characterizing the mechanisms by which the underlying DNA differences lead to disease, and is completed when the knowledge gained delivers benefit back to patients in the forms of improved diagnosis, disease management and treatments. In particular, CGM will lead the effort to complete the Genomic Medicine Cycle – from genetic discoveries to mechanism to the clinic – by assessing where genomic medicine will have the greatest impact on human health, and by driving efforts to implement genomic medicine in those areas at the MGH and beyond.

Read more articles from the 01/27/17 Hotline issue.