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Special populations: People of Icelandic descent
Healthcare providers are bound by the guiding principle of doing no harm. But how does this concept apply to their patients who have not consented to genetic testing or who do not want to know their results? In that case, is providing test results more harmful or not? Anna Clausen explores these issues in the context of breast cancer gene testing in her Global Health Now article “The Right Not to Know: When Ignorance is Bliss but Deadly.” (4/20/18)
The "right not to know" is an ethical concept meaning that people have the right to refuse unwanted information about their health. This could include, for example, not wanting to see surgical photos of a traumatic injury, despite wanting treatment for that injury. As genetic testing technology becomes faster and simpler, the increased availability of predictive genetic information introduces new ethical questions. Anna Marisibel Clausen explores some of these issues in “The Right Not to Know: When Ignorance is Bliss but Deadly,” her March 2018 article for the Pulitzer Center about BRCA genetic testing in Iceland. This is one article in the series “Iceland: the Ethical Challenges of Genetic Testing.”
Iceland, like many European countries, has embraced the "right not to know" concept, which is embedded in the European Oviedo Convention (more formally the Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine):
In explanatory statements, the treaty writers note: "Patients may have their own reasons for not wishing to know about certain aspects of their health. A wish of this kind must be observed." As a signatory country, Iceland follows these tenets. So how does this play out with genetic testing for hereditary cancer gene mutations?
The population of Iceland is just over 348,000 people, similar in population to Anaheim, CA. Genetic counseling and genetic testing are relatively accessible via government healthcare ministry.
In recent genetic testing efforts, DeCode, an Icelandic biopharmaceutical company, sequenced the entire genome of 28,075 people or about 8.0% of the population. Because Iceland has kept extensive genealogical records that trace ancestry to a few common ancestors, DeCode is able to infer the mutation status of most of the country’s citizens. In a 2015 Newsweek article, DeCode founder Karí Stefánsson said, “....we can predict, with substantial accuracy, the genome of the entire nation.” Researchers could identify most
BRCA mutation carriers by combining the encrypted DNA sequence data with lineage records. This includes people who have not participated in DeCode's study or directly undergone genetic testing.
Millions of individuals in the U.S. carry one of over 5000 inherited mutations in
BRCA1 and BRCA2. In contrast, in Iceland, recurrent BRCA1 and BRCA2 mutations have been found, one in each gene, with the BRCA2-999del5 mutation occurring in 8.5% of breast cancer patients and in 0.5% of the population. Researchers estimate that 2,400 Icelanders (about 1% of the population) carry a BRCA2 mutation. Stefánsson argues that the company should inform every potential mutation carrier: "I'd argue that this is a bit foolish, a bit vicious....you just don't let people die young if you can help it, period!"
Women with mutations in
BRCA2 have a much higher lifetime risk of breast and ovarian cancer and men with BRCA2 mutations have a higher risk of breast and prostate cancer. BRCA2 mutation carriers also have an increased risk of pancreatic cancer and melanoma.
Knowing your genetic mutation status is informative and gives you choices:
Issues related to not knowing your genetic information include:
Barkardóttir points out that although she did eventually get tested, "I went through some hard times after my mom died and I couldn't have had this hellish cloud [knowing that she was a mutation carrier] chasing me then. This is something that demands mental maturity. It was crucial that I didn't know earlier."
Vigdís Stefánsdóttir, a genetic counselor at Iceland's National University hospital has seen many people who undergo genetic testing and who choose not to receive their results, even after repeated attempts to contact them: "Then I let it go....because then I know that the counselee isn't ready to know the result." She notes, "I don't like to talk about the right not to know. This is the right to know when it's right for you."
Is there a middle ground in this issue? In Iceland, a government committee has proposed creation of an electronic portal for genetic testing information. The idea is that unencrypted, uploaded genetic information from scientific studies would be available in a central repository. People could then access their own medical records if and when they choose. This would allow each person to "decide where and when and under which circumstances they access this information." One caveat is that individuals would receive only information, without the guidance of a genetic counselor or other health care provider. Currently, this approach remains an idea but suggests a possible resolution to this ethical issue.
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"The Right Not to Know: When Ignorance Is Bliss But Deadly." Global Health Now, Anna M. Clausen, March 20, 2018.
"Iceland Completes DNA Records for Entire Nation." Newsweek, Hayley Richardson, March 26, 2015.
BRCA Iceland: A nonprofit organization in Iceland
FORCE Information: Should I get genetic testing?
FORCE Information: National Guidelines for Genetic Testing
FORCE Information: Genetic Counseling and Risk Assessment
FORCE Information: Paying for Genetic Services
FORCE XRAYS: Genetic Testing category
FORCE Webinar: Hereditary Cancer, Insurance, and Your Legal Rights