Iceland confronts legal and ethical obstacles that have divided the nation and foreshadow what larger countries may soon face.
REYKJAVIK, Iceland — 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 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. The government has refused to do so. Why?
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.
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“That is utter, thorough bulls — t,” Dr. Kari Stefansson, a renowned Icelandic neurologist and biotech leader who has been at the center of the nation’s DNA debate, said in his Reykjavik 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 soon will 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 Stefansson, the answers are straightforward. He compares Iceland’s situation to individuals’ 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.
It is not 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 everybody 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, Stefansson said. It also threatens male carriers with a higher risk of untreatable prostate cancer.
Since the mid-1990s, Stefansson’s company, deCODE Genetics, has dominated the nation’s genomic research. Stefansson claims the company can access a DNA database of 60,000 fully sequenced individuals, and an additional 180,000 whose genetic code has been partially sequenced.
The biotech company declared bankruptcy in 2009 amid Iceland’s financial crisis but has since rebounded, with the help of Amgen, which purchased deCODE in 2012 for $415 million. Since then, deCODE has helped identify a gene variant linked to late-onset Alzheimer’s and one that increases risk of osteoporosis and certain cancers.
With his slashing style and media charisma, Stefansson 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 Bjork,” he said, referring to the pop singer.
But Stefansson is also controversial. Outspoken, contemptuous of ethics purists, Stefansson 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, Stefansson 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 research. The law also allowed a private licensee to control and access this data. Stefansson’s deCODE became that licensee.
Icelanders generally supported the law, but one of its lesser-known provisions soon caused an uproar, 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 a 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. Stefansson 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 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,” Stefansson said. As a stopgap measure, deCODE last month established a website where people could sign up to be notified if they were carriers of the BRCA2 gene.
Stefansson, who served on the faculty of the University of Chicago and Harvard University before starting deCODE, said he expects the United States to face similar conundrums as DNA testing evolves. The National Institutes of Health (NIH) 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.
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 racist ideology.
Stefansson said he understands concerns about bioethics, but he 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.”