LOS ANGELES – The age of genomic medicine is within "striking distance," Eric Green, director of the National Human Genome Research Institute, told attendees of the American Association of Clinical Chemistry's annual meeting here on Sunday.
Speaking at the conference's opening plenary session, Green discussed NHGRI's roadmap for moving genomic findings into clinical practice. While this so-called "helix to healthcare" vision may take many years to fully materialize, "I predict absolutely that it's coming," he said.
Green noted that rapid advances in DNA sequencing have put genomics on a similar development path as clinical chemistry, which is also a technology-driven field. "If you look over the history of clinical chemistry, whenever there were technology advances, it became incredibly powerful and new opportunities sprouted up left and right," he said.
Green likened next-gen sequencing to the autoanalyzers that "changed the face of clinical chemistry" by providing a generic platform that enabled a range of applications. In a similar fashion, low-cost sequencing is becoming a "general purpose technology" that can not only read out DNA sequence but can also provide information about RNA, epigenetic modifications, and other associated biology, he said.
The "low-hanging fruit" for genomic medicine is cancer, where molecular profiling is already being used alongside traditional histopathology to provide information on prognosis and to help guide treatment, he said.
Another area where Green said that genomic medicine is already bearing fruit is pharmacogenomics, where genomic data is proving useful in determining which patients will respond to specific drugs.
Nevertheless, while it's clear that "sequencing is already altering the clinical landscape," Green urged caution. "We have to manage expectations and realize it's going to be many years from going from the most basic information about our genome sequence to actually changing medical care in any serious way," he said.
In particular, he noted that the clinical interpretation of genomic data is still a challenge. Not only are the data volumes formidable, but the functional role of most variants is still unknown, he noted.
This knowledge gap should be addressed over the next several years as NHGRI and other organizations worldwide sequence "hundreds of thousands" of human genomes as part of large-scale research studies.
"We're increasingly thinking about how to use that data to actually do clinical care, but I want to emphasize that the great majority of this data being generated will and should be part of research studies and not part of primary clinical care quite yet," Green said.