Since the sequencing of the human genome at the early part of the last decade there have been numerous significant developments in the field of Genomic Medicine. This week, NEJM launches a new series in which guest editors William Greg Feero and Alan Guttmacher will cover topics from the nuts and bolts of genomewide association studies to cancer genomics to the ways in which genomics is reshaping our perceptions of race, ethnicity, and ancestry. While only a small number of advances have changed routine medical practice, each article will emphasize what can be done for patients today and provide a basis for understanding what will be possible for patients in the years to come.
“We have recently passed an inflection point in the curve of genomic discoveries relevant to common chronic conditions,” says Dr. Greg Feero of the National Human Genome Research Institute. “These discoveries are being translated to new health applications relevant to a broad spectrum of health care providers. Providers will need to understand the science behind them to best judge their potential benefits and limitations.”
The first of thirteen articles, Genomic Medicine – An Updated Primer, is authored by Feero, Dr. Guttmacher, who is Acting Director of the National Institute of Child Health and Human Development, and NIH Director Dr. Francis Collins. They review the fundamental bases of genetic and genomic discovery, looking at key conceptual and technological advances since the NEJM’s first Genomic Medicine series in 2002.
The article also includes a comprehensive glossary, and an interactive graphic depicting methods used to sequence DNA, including that used to sequence entire genomes.
In an accompanying editorial, Ten Years On – The Human Genome and Medicine, Dr. Harold Varmus says, “Both genetic and nongenetic information is important; the more we know about a patient — genes and physiology, character and ontext — the better we will be as physicians. By measuring the distance to a fuller integration of genomic knowledge into patient care, this new series of articles may encourage a more nuanced calibration of what it means to “personalize” medicine.”
Do medical genomics play a role in your daily practice? How do you see this changing in the coming years?