Scientists reflect on fruits of mapping the genetic blueprint for humans
WEDNESDAY, March 31 (HealthDay News) -- A decade after the sequencing of the human genome, scientists muse on how far they've come and how far there is still to go.
Without doubt, the publication of the genome draft in 2001 permanently altered the scientific and medical landscape, although changes to individual lives are slower to come, according to scientists writing in the April 1 issue of Nature.
"It's still a fairly early stage in the transformation," said Dr. Francis Collins, director of the U.S. National Institutes of Health. "Most people's medical care has probably not been directly affected so far by things that have come along since then. Most of the revolution lies ahead in the next 10 to 20 years."
Collins was director of the National Human Genome Research Institute from 1993 until 2008.
For his piece in Nature, Collins dug up old PowerPoint slides to find predictions he had made in 2000 for 2010. Most have come true.
For instance, he was correct in anticipating that predictive genetic tests would be available for various medical conditions, along with interventions to reduce the associated risk.
Tests for the BRCA1 and BRCA2 genes, which elevate a woman's risk for breast and ovarian cancer, are now commonplace, as are assays to identify people who are at higher risk for colon cancer because they have specific gene mutations.
And once found, there are ways to minimize the genetic dangers. In the case of the BRCA genes, this may mean removing the ovaries or breasts in return for a risk reduction of almost 100 percent. For those genetically at higher risk for colon cancer, annual colonoscopies starting at age 30 instead of 50 saves lives.
Mapping the genetics of tumors has resulted in the development of drugs that more accurately and effectively target weaknesses in canc
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