Iceland's ethical debate: Should DNA donors be told if they are predisposed to a deadly disease?

Nearly half of Iceland's population have donated their DNA for research, but should donors be made aware if they're genetically predisposed to diseases like cancer or Alzheimer's?

The question for many is about which gene mutations warrant notification

Kari Stefansson is the CEO of deCODE Genetics. (Christopher Lund/deCODE Genetics)
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If you knew someone was genetically predisposed to cancer, would you tell them?

Dr. Kari Stefansson would. The Icelandic neurologist is the CEO of deCODE Genetics, a company that has collected the DNA of nearly half the country's population.

Using the company's data, he said that he can pinpoint 1,600 people at risk of deadly cancers in Iceland. The government, however, won't let him.

"It is a tradition in Icelandic society — and probably in most societies — that if you know that someone is in life-threatening danger and they don't know of it ... that you alert them," he told Day 6 guest host Nana aba Duncan.

Icelanders have been voluntarily donating their DNA for public and private research since the late 1990s. Because of generally low immigration to the country, Iceland's gene pool is largely homogeneous, which makes it easier to study.

Reykjavik, the capital of Iceland, is seen from the top of Hallgrímskirkja church. (Tim Trad/Unsplash)

It's also easier to spot common gene mutations that could lead to deadly diseases, including a mutation in the BRCA2 gene that is known to cause breast cancer in women.

"We do not let people die prematurely if we can prevent it," Stefansson said.

Need informed consent

Iceland's government won't allow for those who might be affected to be notified due to privacy laws and the so-called right not to know.

Several years ago, Stefansson started lobbying Iceland's government to allow his company to proactively notify those who have deadly gene mutations.

"There are those who believe that in the Icelandic Constitution, and in some Icelandic law, there are clauses that are meant to protect privacy that would be violated," he said.

"I personally believe that is incorrect."

When deCODE began collecting DNA in the 1990s, participants offered their data for scientific study. They did not, however, give explicit consent to be notified about any concerns with their genetic makeup.

Where that line is drawn is for society to decide — not for us scientists.- Dr. Kari Stefansson

Without that consent, the government says that DNA researchers' hands are tied.

"What [the government is] ignoring is the fact that we are constantly, in Icelandic society, saving the lives of people in serious danger without asking them for informed consent," Stefansson said.

"If someone falls into the harbour, we pull them out without asking them first to sign an informed consent," he continued.

There is nothing in Icelandic law — or the constitution — preventing a company from notifying someone specifically about a gene mutation, he said

What to disclose?

While notifying women that they have a BRCA2 mutation could lead to years of worry, it could also give them the chance to take preventive measures to avoid breast cancer.

The positives outweigh the negatives for Stefansson.

"You can undergo a preventive mastectomy that decreases the risk of breast cancer down to less than five per cent," he said.

Indeed, women in Iceland have responded favourably to the idea. A survey by the Icelandic Medical Association in June found that 97 per cent of women supported learning about gene mutation status from DNA sourced for scientific work.

A scientist is shown holding a test tube in front of a model of a double helix. (iStock/Getty Images)

The question for many is about which gene mutations warrant notification.

Stefansson acknowledged that there are subtle gene mutations that don't carry a high risk. Those instances don't require notifying a donor.

But what about a mutation — and subsequent disease — with no known treatment?

While there are remedies to the BRCA2 mutation, a predisposition to Alzheimer's disease, for example, has no cure. Proactively telling a research participant about mutations like these, Stefansson said, is controversial.

"Where that line is drawn is for society to decide — not for us scientists."


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