Iceland faces a DNA dilemma: Whether to notify people carrying cancer genes
Iceland faces ethical DNA dilemma
Iceland, with extensive DNA databases, has the ability to
identify citizens with deadly breast-cancer genes, and notify them. But
government so far refuses to do so.
By Stuart Leavenworth and Alexa Ard June 14, 2018 05:00
AM
REYKJAVÍK, ICELAND - Sometime in the future, U.S.
researchers will be able to press a button and reliably identify the thousands
of people who carry cancer-causing genes, including those that trigger breast
cancer.
In Iceland, that day is already here. With a relatively
uniform population and extensive DNA databases, Iceland could easily pinpoint
which of its people are predisposed to certain diseases, and notify them
immediately. So far, the government has refused to do so. Why? Iceland
confronts legal and ethical obstacles that have divided the nation and
foreshadow what larger countries may soon face.
Since the late 1990s, tens of thousands of Icelanders
have agreed to contribute their DNA to a public-private science projects aimed
at delivering medical breakthroughs. But in contributing their DNA — and in
many cases, their medical records — these people never explicitly consented to
be notified of personal health risks that scientists might discover.
Icelandic regulators have determined that without that
explicit consent, neither the government nor private industry can notify people
of these risks.
"That is utter, thorough bulls--t," Dr. Kári
Stefánsson, a world-renowned Icelandic neurologist and biotech leader who has
been at the center of the nation's DNA debate, told McClatchy in an interview
in his Reykjavík office. "There is a tradition in American society, there
is a tradition in Icelandic society, to save people who are in life-threatening
situations, without asking them for informed consent. Should there be a
different rule if the danger is because of a mutated gene?"
In Iceland more than anywhere, the promises of technology
and "personalized medicine" are clashing with concerns over privacy
and medical norms. In the United States and elsewhere, scientists and doctors
will soon have the capability to tell people about their predispositions to
diseases. But at what age should they be told, and with what caveats? Should
researchers only tell individuals about diseases that can be prevented — such
as with a mastectomy — as opposed to those they can't stop, such as Alzheimer's?
And what if people don't want to know?
For government critics such as Stefánsson, the answers
are straightforward. He compares Iceland's situation to an individual's
day-to-day obligation to act if they see another in peril. "If someone
falls into the harbor, does he need to sign an informed consent before you pull
him out of the sea?," he asked incredulously.
It is hardly surprising that Iceland, with a mere 330,000
people, has become a living laboratory for DNA testing and the privacy issues
that surround it. Nearly everyone here traces their lineage back to the
original Viking settlers, a mix of Norsk and Celtic peoples. Iceland's gene
pool has varied little over the centuries, in part because of its isolation.
This homogeneity makes it easier for researchers to
isolate genes that trigger diseases. For example, Icelanders carry just one
mutation of BRCA2, a gene that causes breast cancer. Only 0.8 percent of
Icelandic people possess the gene, but it holds an 86 percent probability of
causing cancer in women who carry it, Stefánsson said. It also threatens male
carriers with a higher risk of untreatable prostate cancer.
Since the mid-1990s, Stefánsson's company deCODE Genetics
Inc., has dominated the nation's genomic research. Stefánsson claims the company
now can access a DNA database of 60,000 fully sequenced individuals, and
another 180,000 whose genetic code has been partially sequenced.
The biotech company declared bankruptcy in 2009 amid
Iceland's financial crisis, but has since bounced back, with the help of Amgen,
which purchased deCODE in 2012 for $415 million. Over the last six years,
deCODE has helped identify a gene variant linked to late-onset Alzheimer's and
another one that increases risk of osteoporosis and certain cancers.
With his slashing style and media charisma, Stefánsson
has become one of Iceland's most well-known figures, said Dr. Bogi Andersen, an
Iceland native and medical professor at the University of California, Irvine.
"In Iceland, Kari is more prominent than Björk," he said, referring
to the Icelandic pop singer.
But Stefánsson is also enormously controversial.
Outspoken, contemptuous of ethics purists, Stefánsson has built a career on
lobbying and sometimes bullying the Icelandic government. "It is outside
the norms the way he has manipulated the agencies," said Andersen.
Two years after founding deCODE, Stefánsson and others in
the company persuaded Iceland's parliament to pass the Health Sector Database
Act, an effort to create a vast database of Icelanders' genetic information and
medical records, in an encrypted form, for scientific research. The law also
allowed a private licensee to control and access this data. Stefánsson's deCODE
became that licensee.
Icelanders generally supported the law, but one of its
lesser-known provisions soon caused an uproar, both in Iceland and beyond.
Under the law, personal data of Icelanders was excluded from the database only
if a person asked to opt out. Under normal research protocols, people are only
included in a study if they explicitly consent.
"When deCODE was founded, it broke every bioethics
norm," said Michael Malinowski, a Louisiana State University law professor
who specializes in biotechnology issues. "It was a complete flip on the
idea of informed consent."
Iceland's use of "presumed consent" with the
database was ultimately deemed unconstitutional. In 2003, Iceland's Supreme
Court ruled in favor of an Icelandic woman who challenged the inclusion of her
father's medical records in the database. The decision effectively ended the
Health Sector Database, forcing deCODE to use other means to build its data
sets.
Over the years, deCODE has encouraged tens of thousands
of Icelanders to voluntarily share their genetic codes. Stefánsson said the
company now could identify carriers of the BRCA2 gene in the 60,000 Icelanders
whose DNA has been fully sequenced, and extrapolate to pinpoint others. But
Icelandic regulators have repeatedly refused to let deCODE de-encrypt the data
to identify these carriers, and notify them.
"The legal experts working for the government have
come to the conclusion the government cannot approach women with this mutation
and warn them," Stefánsson said. As a stop-gap measure, deCODE last month
established a web site where people could sign up to be notified if they were
carriers of the BRCA2 gene.
Stefánsson, who served on the faculty of University of
Chicago and Harvard University before starting deCODE, said he expects the
United States to face similar conundrums as DNA testing evolves. Currently, the
National Institutes of Health is seeking to recruit 1 million Americans to
contribute DNA and medical data — in an anonymous form — to the "All of
Us" national research project.
Stephanie Devaney, a geneticist and deputy director of
All of Us, said the NIH is taking several steps to avoid the kind of dilemma
Iceland is facing. Roughly 72,000 people have so far signed consent forms to
participate in All of Us, with the expectation they will receive personal
information from the study, if they want it, she said.
The NIH is preparing to select a genetic counseling
service to help participants understand their results, and will likely ask them
to sign separate consent forms before receiving personal health data and
interpretations. "We've been thinking about this from the embryonic stages
of this program," said Devaney.
Informed consent protocols are partly a response to
history's most notorious scientific abuses. During World War II, the Nazis
conducted numerous experiments on prisoners, in part to advance the Nazi racial
ideology. In the United States during the early 20th century, more than 30
states passed compulsory sterilization laws, part of a eugenics push that led
to the sterilization, without consent, of tens of thousands of people.
Stefánsson said he understands concerns about bio-ethics,
but argues that Iceland is overreacting. He blames the dilemma partly on German
dominance of Europe's research protocols, which he thinks are excessively
sensitive.
"The Germans, for whom I have great admiration, are
still dealing with their bad conscience from the Second World War," he
said. "They have an extraordinarily ambivalent view of any instruments
that allow you to approach a lot of people for any particular purpose."
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