In 2006, Time magazine named "You" as the Person of the Year, with a cover consisting of a mirror.
This year, Science magazine essentially has done the same thing on a molecular level. The magazine has named human genetic variation as its Breakthrough of the Year 2007, espousing that "we have moved from asking what in our DNA makes us human to striving to know what in my DNA makes me me."
Nature Methods, meanwhile, picked next-generation sequencing methods as the methods breakthrough of the year, and noted that sequencing may be going individual on another level, as well.
The draft sequence of the human genome was a mass effort of what is sometimes dubbed Big Science - a moniker that is usually not meant as a compliment by those bestowing it. But in the commentaries accompanying the Nature Methods selection, Stephan Schuster of Pennsylvania State University argued that next-generation sequencing "has brought the field of genomics back into the laboratories of single investigators or small academic consortia."
This year has brought a bumper crop of studies on several variations of human genetic variation. For starters, there were pretty much weekly studies linking single nucleotide polymorphism or SNP variants to differential risk of diseases.
In one notable example, in April two studies were published within weeks of each other, each linking a SNP within a noncoding stretch of chromosome 9 to a different disease: Type II diabetes and, in Caucasians, coronary artery disease. The findings prompted National Human Genome Research Institute Director Francis Collins to call the findings "a stunner," adding that "This is like the seat of the soul of the genome. . . . This one place carries all of that weight" as a risk factor. (See BioWorld Today, May 7, 2007.)
Researchers also made progress in deciphering genetic risk factors for a multitude of other conditions. In its Breakthrough of the Year story, Science reported that "new gene associations now exist for heart disease, breast cancer, restless leg syndrome, atrial fibrillation, glaucoma, amyotrophic lateral sclerosis, multiple sclerosis, rheumatoid arthritis, colorectal cancer, ankylosing spondylitis and autoimmune diseases. One study even identified two genes in which particular variants can slow the onset of AIDS."
And 2007 brought a growing understanding that beyond base pair substitutions, other types of genetic variation also play large roles in shaping an individual's genome. Whole stretches of DNA can become lost, inverted or copied in a different order - or more than once. Notable consequences of that type of genetic variation include the finding that populations with high-starch diets have more copies of a gene for digesting starch than members of societies of hunter gatherers, and the finding that copy number variations in several genes can lead to an increased risk for autism.
Despite many optimistic predictions of what the advent of gene sequencing might mean for personalized medicine, so far, only a handful of people have had their whole genomes sequenced. Craig Venter's and James Watson's genomes made headlines in 2007 for being completely sequenced and put into the public domain. Actually, Watson's made headlines twice: first, when it was presented to him in May, and again in December when Icelandic biotech firm deCODE Genetics reported that an analysis of Watson's genome suggested he has 16 percent African ancestry, rather than the 1 percent that is typical for white Americans. DeCODE was moved to look into the likely racial makeup of Watson's ancestry after Watson stated in an interview that blacks are genetically less intelligent than whites.
But the sequencing of individual genomes has brought scientific insights as well as ego gratification and soap opera material. By sequencing both Venter's maternal and paternal chromosomes, and comparing his genome to the consensus sequences that were published earlier, scientists at the J. Craig Venter Institute estimated that one in 200 DNA bases differ between individual genomes, five times higher than previous estimates. Almost half of the genes in Venter's genome have at least one differing base pair in the maternal and paternal chromosome.
Science's runners-up for breakthrough of the year includes the discovery of how to make induced pluripotent cells - cells derived from adult skin and transformed with growth factors to have embryonic stem cell-like properties.
The findings are early stage at this point, but in principle, provide a way to make cells for transplant from a patient's own cells, which could obviate both immunological concerns and, in some cases, donor shortages. (See BioWorld Today, Nov. 21, 2007.)
Time magazine, meanwhile, went back to a more traditional selection this year. In its Dec. 31 issue, which hits newsstands today, it is naming Russian President Vladimir Putin as Person of the Year. Neither James Watson nor Craig Venter were on the list of candidates.