Ten years ago, geneticists would look only at one or two genes and test for individual diseases. Now, with Next Generation Sequencing, a more rapid, cost-effective approach to genome sequencing, experts can obtain data on thousands of genes with a single test.
By Barbara Sadick, Chicago Tribune
JUNE 20, 2016 – Lee and his wife are the first patients of Dan Carlin to have their entire genome mapped.
A successful hedge fund manager, Lee has been reading about mapping for some time. After watching the cost fall from millions of dollars to single-digit thousands of dollars, he approached Carlin, the founder of WorldClinic and a pioneer in digital health care delivery, with the idea of having his own genome mapped, a step he saw as an essential investment in his family’s health.
Lee, who agreed to be identified only by his first name, understands the pros and cons of genome mapping. He knew that he and his wife could learn things about their health that they would not be able to do anything about, but they also would learn about the likelihood of future health problems that could be prevented with proper treatment.
“You can know what your potential health problems are and deal with them over time, or you can someday be confronted with a massive smack in the face,” Lee said.
After researching the options, Carlin recommended the couple send saliva samples to Genomics Personalized Health (GPH), one of the first genome sequencing companies to take that saliva, extract its DNA and feed it into a DNA sequencing machine that spits out massive amounts of data.
That data is composed of a long list of the four essential building blocks of DNA: adenine, thymine, guanine and cytosine. For computing purposes, these names are shortened to just A, T, G and C respectively.
It is the myriad combinations of these four molecules that are subject to the GPH sequencing analysis that yields the actionable information needed to make sense of such a huge amount of data.
Genome mapping is in its early stages, at the beginning of a massive revolution that began in 2000 when the National Institutes of Health and a private initiative simultaneously sequenced the entire human genome. Human Genome Project international researchers compared the feat to the Apollo moon landing and the splitting of the atom, envisioning the dawn of a new age, “the era of the human genome.”
Like Lee and his wife, every person has about 6 billion DNA letters or 3.2 billion base pairs of genes, out of which 99.9 percent are the same. The other 0.1 percent or 3.2 million pairs of DNA represents the differences in how people look and act, their unique traits and what their health risks are. Those are the genes that are analyzed and interpreted by highly trained geneticists.