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willing to get sequenced — either because they didn’t see the
value or had privacy concerns. Church and others have largely
solved the first problem. Now, he’s convinced he’s found a solu-
tion to the other.
THE ALTA SUMMIT
For five days in December 1984, blizzards hammered Alta Ski
Area in the Wasatch Mountains outside Salt Lake City. Between
powder runs, the world’s top geneticists hunkered down in the
lodge and brainstormed. The U.S. government had invited them
there to help detect genetic mutations among atomic blast survi-
vors and their children. Their consensus: The technology wasn’t
there yet, but it could be. As the snowed-in scientists advanced
their talks, they inadvertently launched one of the largest, most
expensive research endeavors in history: the HGP.
Church was at the center of those talks. His 1984 Harvard
University Ph.D. thesis on genome sequencing techniques had
already laid some of the groundwork for what would become
the $3 billion project. But, when the first human genome
sequence was finally published in 2003, to Church, it was only
the beginning.
In the years since, he’s advised or co-founded dozens of sci-
entific projects and biotech companies. Their common thread:
bringing genome sequencing to the mainstream.
With the launch of the Personal Genome Project in 2005,
Church’s research team set out to create a vast database of
genomes from volunteers — so far, they’ve netted 10,000
genomes. He’s also been working with the genetic testing
company 23andMe since before its launch in 2006. Plus, he
started Veritas Genetics, which has now driven the cost of whole
genome sequencing plus analysis below $1,000. “We’ve brought
the cost down about 10 millionfold,” Church says. And in the
coming years, he expects technology advances should lower the
cost by another order of magnitude.
But along the way, he saw that lowering the cost isn’t enough
to accomplish his goal of sequencing humanity’s genome. “I
realized that even if it was zero dollars, a lot of people would not
get their genome sequenced,” Church says.
Part of that is because people are worried about their genetic
privacy, he says. In 2018, a survey from the Harris Poll found
that about half of all Americans are either “extremely” or “very
concerned” about the security of their health care data. Most
of that concern is related to medical data breaches and identity
theft. And services like 23andMe (where Church still serves as
an adviser) have drawn controversy by selling their customers’
genetic data.
Another part boils down to simple apathy. “Most people don’t
care,” Church says. “You need to motivate them.”
He hopes his latest effort, a company called Nebula Genomics,
will address all of those issues.
Nebula’s goal is to pay for people to get their genome
sequenced, and use encryption techniques to keep health
record transactions totally anonymous. As an extra incentive,
users could choose to turn around and rent out their data, with
identifying information removed, to researchers and drug
companies.
But genome sequencing takes money. To that end, Church
has been, mostly metaphorically, hitting the road with a pitch
for every health insurance executive in America.
It goes like this: Five percent of children globally are born
with serious birth defects caused by a single gene. These illnesses
can be tragic for families and cost insurers millions per child.
However, providers could avoid those costs if they were willing
to pay for their patients to have their whole genomes sequenced.
Participants would then receive free genetics counseling from
their health care provider.
The resulting savings could be reinvested: Just $1 million
could sequence thousands of future parents, saving even more
money and lives.
As of right now, no insurance companies have bought in.
But Church is optimistic about Nebula’s potential to save themChurch imagines a variation of this
program for couples everywhere.
Existing social media and online dating
sites could be modified to implement
this kind of genetic matchmaking at a
population scale — for all diseases.
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