Big (really big) data comes to health care

In December 2013, Kira Peikoff wrote about how, when she had her DNA tested by three direct-to-consumer companies, the results were all over the place. She interviewed experts to get their advice:

J. Craig Venter, chief executive of his namesake institute and of Synthetic Genomics, was a pioneer in sequencing the human genome in 2000. Though he issued recommendations to genetic testing companies four years ago to help them improve their predictions, he remains skeptical of their clinical value.

“Your results are not the least bit surprising,” he told me. “Anything short of sequencing is going to be short on accuracy — and even then, there’s almost no comprehensive data sets to compare to.”

Now, it seems, Venter is setting out to solve this issue:

Venter says he’ll soon begin sequencing up to 40,000 genomes a year, and quickly ramp up to 100,000, to find the mutations that contribute to age-related illnesses such as heart disease and cancer, which collectively kill about 1.2 million people a year in the U.S.

[…]

Cancer is the company’s first target. HLI also will tackle increasingly common afflictions such as Alzheimer’s and Parkinson’s disease. The diseases are a large and growing focus of local scientists, including those at UC San Diego, which last year created an Institute for Genomic Medicine.

And they’re not just after genotypes. HLI (Human Longevity, Inc.) is collecting microbiome and phenotype data, too. That is some seriously big data.

Is this a new level of information haves and have-nots? Are we going to be separated into two groups: those who can get their whole genome sequenced vs. those who cannot? Is it even worth doing the consumer-strength genetic testing? I’ll give the final word to Arthur Caplan, director of medical ethics at the New York University Langone Medical Center:

The tests “may be interesting as a kind of entertainment,” Dr. Caplan said, “but do not take them seriously yet in driving your health care or your lifestyle.”

He added: “If you want to spend money wisely to protect your health and you have a few hundred dollars, buy a scale, stand on it, and act accordingly.”

(If you want to learn more about Human Longevity, Inc., here’s today’s press release.)