The take home is that it is possible to identify a person from his
genome and soon to be cheaply available. The good news is that it is
not a gold mine. The bad news is that genetic anonymity has ended
when a fifteen year old boy can nail it and it starts been good
enough for half the targets.
Our society can and will recognize parenthood only on the basis of
the genome. This allows imposing child care obligations exclusively
on the biological parents and to do this unilaterally. It may not be
fair, but the alternative is also not fair. One can foresee mothers
collecting contributing birth fathers just to spread the financial
load.
One more delightful change in the social contract now coming up!
This also tells us that criminal behavior just became even more
risky. If most DNA can be traced back to a surname with ease, it is
as good as hot pursuit. It is almost impossible to not leave traces
even in a simple robbery just in a fingerprint. Thus cheap DNA
testing combined with huge databases will run most down.
Scientists Discover
How to Identify People From ‘Anonymous’ Genomes
BY GREG MILLER
01.17.13
Most people
participate in genomic research because they hope the DNA they offer
up will help scientists uncover the roots of human diversity and
disease. They generally expect to remain anonymous. But they may not
be.
Researchers armed
with little more than an internet connection identified nearly 50
people who participated in a large genomic study based on some of the
participants’ genomes and other publicly accessible information.
The researchers do not
name these individuals, and they insist their intentions were good.
“We are not trying to start a panic,” said Yaniv Erlich of the
Whitehead Institute for Biomedical Research, who led the new study.
“We are trying to illuminate some of the gaps in privacy we have
right now and initiate a public discussion.”
Scientists and
research subjects aren’t the only ones who have a stake in that
conversation, says genomics pioneer George Church, of Harvard Medical
School. Today, a genome can be sequenced for a few thousand dollars,
and the cost continues to drop.
“Soon you’ll be
sequencing yourself and your dog and your plants,” Church said.
The new study shows
that those sequences can sometimes be traced back to the individuals
they came from.
Erlich and his team started with the observation that
Y-chromosomes and surnames tend to go together. That’s because sons
always inherit their father’s Y-chromosome and typically inherit
his surname.
Certain genetic
stutters on the Y-chromosome, in which the letters of the genetic
code repeat over and over, vary widely in the general population but
tend to be shared by closely related men.
In a few highly
publicized cases, people have exploited this to find their sperm
donor father. In 2005, for example, a 15-year old boy
reportedly found his biological father after having his own
Y-chromosome tested and combing a commercial genealogy website for
close matches. These matches pointed to a potential surname, which
the boy combined with other clues — including the sperm donor’s
birth place and date — to track him down.
What Erlich’s team
did is conceptually similar, but far more technically sophisticated.
Instead of starting with a DNA sample, they started with 10 entire
genomes publicly available as part of the international 1000 Genomes
Project. An algorithm the researchers developed mined these genomes,
all from men, for telltale variations in the Y chromosome. Then they
searched two commercial genealogy databases for close matches and
identified potential surnames. Finally, using additional details from
the research records, such as the participants’ age and state of
residence, as well as obituaries and other public documents, the
team identified five of the 10 research participants and their
entire families, which were also part of the genome research project,
they report today in Science.
“It’s the first
I’m aware of that individuals have been identified from research
data without any other DNA sample,” said Laura Lyman Rodriguez, who
directs the Division of Policy, Communications, and Education at the
National Human Genome Research Institute (a branch of the NIH). “The
chances of this happening for most people are very small, but they’re
not zero,” Rodriguez said.
In a separate
analysis, Erlich and colleagues estimated that their approach
could be used to identify the surname of roughly 12 percent of
Caucasian males in the United States from their genomes. For that 12
percent, additional public records searches could narrow the identity
of each individual down to about 12 people. In other words, Erlich
says, it’s not like any given person could be identified from their
genome. But a sizable minority could.
That minority might be
even bigger in European countries that historically have experienced
less immigration than the U.S. has, says Mark Jobling, a human
geneticist at the University of Leicester in the United Kingdom.
Jobling notes that waves of immigration and the legacy of slavery in
the U.S. would tend to weaken the association between Y-chromosome
sequences and surnames, because many slaves were forced to take on
the names of their owners, for example, and many immigrants
Anglicized their names to avoid standing out.
“Anonymity is a myth
if you’ve got richly detailed genetic information and access to a
variety of databases,” said Hank Greely, a law professor at
Stanford University who specializes in the ethical and legal
implications of emerging biotechnology. Researchers need to ensure
informed consent from participants, Greely says, even if that means
telling them it may not be possible to protect their privacy.
Rodriguez says the
National Institutes of Health have already taken steps in response to
the study, which Science’s editors made available to them
prior to its publication. For example, participants’ ages have been
stripped from the open access webpages of several large genomic
studies and will be made available only to researchers who request
them and agree not to try to discover the participants’ identities.
“Probably that’s
not going to work,” Church said. Rather than making it harder to
access data, researchers should be telling people who get their
genomes sequenced that there’s a strong possibility they could be
identified, and informing them of the possible consequences. Consent
forms for the Personal Genome Project, an effort run by Church that
aims to sequence the genomes of 100,000 people from the general
population, informs prospective participants that if their genetic
information ends up in the wrong hands it could result in anything
from discrimination by unscrupulous employers or insurance companies
to their DNA being synthesized and planted at a crime scene. They
also have to take a test to prove they understand all this.
Despite these
disclosures, few people are scared off, Church says. “Plenty of
people with a variety of medical conditions are willing to
participate, and many of these seem very proud of passing the test
and the other rites of passage,” he said.
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