Article: The right not to know when not knowing is dangerous
|Right not to know||Letting the individual decide|
|Genetic testing in Iceland||Questions for your doctor|
|Pros and cons of testing||Resources|
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 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):
- Article 10
- Everyone has the right to respect for private life in relation to information about his or her health.
- Everyone is entitled to know any information collected about his or her health. However, the wishes of individuals not to be so informed shall be observed.
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 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 mutation carriers by combining the encrypted 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 and . In contrast, in Iceland, recurrent and 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 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 have a much higher lifetime risk of breast and ovarian cancer and men with mutations have a higher risk of breast and cancer. mutation carriers also have an increased risk of pancreatic cancer and melanoma.
Knowing your genetic mutation status is informative and gives you choices:
- You can increase preventive screening for cancer.
- You can consider risk-reducing surgeries.
- Risk-reducing mastectomies (surgical removal of breast tissue) can reduce the risk of breast cancer by 90-95%.
- Risk-reducing salpingo-oophorectomy (surgical removal of the ovaries and ) reduces risk of ovarian cancer by 80-96%.
- You may experience reduced anxiety if you do not carry a predisposing mutation. However, knowing that you are a carrier may increase your anxiety.
Issues related to not knowing your genetic information include:
- The potential for anxiety may be reduced, however, for some people the uncertainty of not knowing may also be anxiety-provoking.
Icelanders commonly cited anxiety as a reason not to know one's genetic testing results. As Íris Katrín Barkardóttir, an Icelander whose story is included in the article, describes: "To be alive is deadly, and if you are always thinking 'what if,' then you are stuck in a cycle of angst. As someone who suffers from anxiety I try to shut these thoughts out, but of course they appear."
- You can find out later. A decision to not know needn’t be permanent, whereas once you know your mutation status you cannot “unlearn” that knowledge.
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 Records for Entire Nation." Newsweek, Hayley Richardson, March 26, 2015.
Iceland: A nonprofit organization in Iceland for people with inherited mutations.
FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.
This article is relevant for:
People with Icelandic heritage
This article is also relevant for:
people with breast cancer
men with breast cancer
people with ovarian cancer
Be part of XRAY:
NCCN guidelines recommend genetic counseling and testing for people without cancer who have the following family history:
- A relative who has tested positive for an in a gene that increases cancer risk.
- One or more first- or second-degree relatives with breast cancer and any of the following:
- diagnosed at age 45 or younger
- two separate breast cancers, with the first diagnosis at age 50 or younger
- male breast cancer
- One or more first- or second-degree relatives with:
- colorectal cancer before age 50
- endometrial cancer before age 50
- ovarian, , primary peritoneal cancer
- rare or childhood cancers
- One or more first-degree relatives with:
- or high-grade cancer
- pancreatic cancer
- Two or more relatives on the same side of the family diagnosed with any combination of the following at any age:
- breast cancer
- pancreatic cancer
- adrenal cancer
- brain tumors
- endometrial cancer
- thyroid cancer
- kidney cancer
- diffuse gastric cancer
- colon cancer
- Should I consider genetic testing given my personal and family history?
- What genetic testing is best for me?
- Is genetic counseling available before and after testing?
- What are the benefits and risks of knowing my risk?
Below are clinical trials that include genetic counseling and testing.
- NCT02665195: Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of .
- NCT05694559: Connecting Black Families in Houston, Texas to Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
The following resources can help you locate a genetics expert near you or via telehealth.
Finding genetics experts
- The National Society of Genetic Counselor website has a search tool for finding a genetic counselor by specialty and location or via telehealth.
- InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference.
- Gene-Screen is a third party genetic counseling group that can help educate, support and order testing for patients and their families.
- JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
- Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone.
- The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors.
- The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.
Other ways to find experts
- Register for the FORCE Message Boards and post on the Find a Specialist board to connect with other people who share your situation.
- The National Cancer Institute (NCI)-designated comprehensive cancer centers have genetic counselors who specialize in cancer.
- FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can help you find a genetics expert near you.