16 | New Scientist | 16 November 2019
Analysis Genome sequencingPLANS for the National Health
Service to sequence the DNA of every
baby born in the UK, starting with a
pilot scheme of 20,000 children in
England, were announced by health
minister Matt Hancock last week. It
sounds like the UK is leading the way
in high-tech healthcare, but doctors
say the idea is ethically questionable.
Babies are already tested for
certain health conditions soon after
birth, so sequencing their genomes
may seem to be a simple upgrade
of this routine screening, but that
isn’t the case.
At present, UK babies are checked
for nine carefully selected conditions
that can be averted or lessened
with pre-emptive treatment. For
instance, the metabolic disorder
phenylketonuria can cause brain
damage, but this can be avoided
through a low-protein diet.
Unfortunately, most illnesses are
harder to check for and less treatable.
We are only at the start of our journey
to understand the complexity of thehuman genome, and some of what
we have learned so far can create
difficult dilemmas.
Take the genetic condition
Huntington’s disease, which has no
cure. It starts with mild symptoms in
middle age, eventually progressing
to severe disability and early death.When people learn that
Huntington’s is in their family, they
may spend years deciding whether
to take the test for it. Many choose
not to. Parents who ask doctors
to test their child are turned down,
as set out in international guidelines.
Deciding to learn if you have the gene
responsible is such a personal choice
that it must be left to the individual
concerned once they turn 18.
Huntington’s is rare, but there are
similar dilemmas over genes thatpredispose people to more common
conditions such as Alzheimer’s
disease and certain cancers. There
is currently little you can do to avoid
dementia, and for women who learn
they have a particular gene that raises
cancer risk, the safest step is to have
their breasts and ovaries removed.
Some people would rather not
know about these risks before it
is necessary. “We have endless
discussions about [the ethics of]
testing children for conditions that
don’t manifest until later life,”
says Frances Elmslie of the British
Society for Genetic Medicine.
Nor would it be logical to sequence
children at birth then wait until they
are 18 to give them their results.
In the intervening years, sequencing
is bound to become cheaper and
more powerful. “It would make
more sense to offer it to every
18-year-old,” says Martin Brunet,
a family doctor in Surrey, UK.
There is a small group of children
for whom genome sequencing canhelp: those with rare, undiagnosed
medical conditions. In one study, it
led to a diagnosis in a fifth of children
in intensive care. That figure is likely
to improve over time. In these cases,
parents can give their consent for
sequencing because there is a
medical benefit, but that is different
to sequencing every baby by default.
A US group has begun a small
trial involving the routine genome
sequencing of healthy babies. The
families are being monitored to see
how they cope and to measure any
benefits and harm.
No details are available about
the UK plans and Hancock didn’t
respond to New Scientist’s requests
for comment. But introducing
sequencing for everyone is a massive
step. It will require public consultation
over the ethical questions – not to
mention on practical issues like how
the data will be stored securely and
the impact on doctors’ workloads,
says Elmslie. “We need to think really
carefully about this.” ❚News Personal genomics
20,
The number of UK children to be
in a pilot DNA sequencing schemeWe shouldn’t gather the DNA of every UK baby by default
Our genomes can contain life-changing information. Getting this
data from infants is an ethical minefield, says Clare WilsonGenetic privacyDNA sites propose
security plans to
prevent attacksTHE two biggest genetic genealogy
sites are hoping to introduce major
new security measures to protect
the DNA of millions of people,
following recent concerns over
risks to genetic privacy.
Anyone who takes a direct-to-
consumer DNA test with a company
such as 23andMe can download
the data and upload it to third
parties, often to help find relatives.
Researchers recently showed
how attackers could upload faked
DNA profiles to create family
matches for users of one leading
genetic genealogy site, GEDmatch.
Another study raised concernsabout genetic privacy being
compromised on similar services.
Now two of the biggest third-
party sites – MyHeritage, which has
3 million users, and FamilyTreeDNA,
which has 2 million – have told
New Scientist that they want to
address the issue.
Paul Maier at FamilyTreeDNA
says both services are willing to use
encryption keys and cryptographic
signing of customer’s raw data files,
which would mark them as genuine
and prevent these faked attacks.
But, he says that for the measures
to be effective, it would require DNA
testing firms such as AncestryDNA
to also adopt them. “If there’s
agreement on their end, this solves
the [privacy] concern,” he says.
In a paper in the journal Science
last year, Yaniv Erlich at MyHeritagecalled for the establishment of
cryptographic signatures by DNA
testing firms, with a unique
encrypted key created and applied
to each test. Genetic genealogy sites
could then reject any DNA test
results without a signature.
He is working with other
academic groups on the creation
of an open source code for the
approach, but says they are a
few months off having a working
solution. If it were adopted acrossdirect-to-consumer DNA firms and
third party sites, he says it would
be a “very strong step forward”.
GEDmatch, a site with about
1 million users, told New Scientist
that it was “very interested” in the
use of cryptographic signatures.
It remains unclear whether the
direct-to-consumer DNA testing
companies will sign up to the
approach. 23andMe says it warns
users of risks if they download
their data and upload it to third
parties, but didn’t comment on
the idea of using cryptographic
signatures and encryption keys.
AncestryDNA didn’t respond to
requests for comment. ❚For more on genetic privacy,
see page 23Adam VaughanAL
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be uploaded
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investigate your
family tree