The Psychological Effects of Hereditary Cancer Screening (Genetic Tests)

The Human Genome Project was an international scientific research project aimed at identifying the base pairs that make up human DNA, physically and functionally defining all genes in the human genome and mapping the genes.

As we progress through the 21st century, scientific developments, including the Human Genome Project, have created growing potential to prevent diseases such as cancer. Among these important advances is our ability to identify who may be at higher risk of diseases such as cancer. This means we now have a better understanding of how much cancer is inherited from parents and which genes are involved in that inheritance.

Notable studies whose results were announced in 2020 confirmed that around 10-15% of advanced cancers are hereditary. This proportion may initially seem small, but given that 18 million people worldwide receive a new cancer diagnosis each year, hereditary cancer is an important, insufficiently recognized field affecting millions of patients and their families who are concerned by it.

• Related Topic: Familial, Hereditary and Sporadic: Frequently Confused Terms in Cancer 

Genetic screening for hereditary cancer risk is a simple test performed on bodily fluids such as a blood or saliva sample, but it contains extremely powerful information about lifelong health and disease for individuals and their families. Psychosocial issues arising from genetic testing interact with personality factors and cognitive capacity, affecting our relationships with ourselves and others.

Who Should Have Hereditary Cancer Screening, and Why?

Cancer patients and cancer survivors are usually the first to consider genetic testing for hereditary cancers. In some cases, genetic test results can even be used to help plan cancer treatment (see PARP inhibitors).

After a positive test for hereditary cancer, other family members are also considered for testing. People with a suspected or confirmed family history are also candidates for hereditary cancer tests. For example, if your mother and maternal aunt have a history of breast cancer and your maternal grandmother had ovarian cancer, and you are a 30-year-old woman, it is possible that cancer is being inherited in your family. Instead of spending nights worrying about whether you inherited this cancer, genetic screening for BRCA1/2 or other hereditary cancer genes may help relieve some of this uncertainty and ultimately identify an action plan to improve your health.

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Genetic screening — also called genetic predisposition testing — helps people learn whether genetic mutations are present, but these tests do not test for cancer itself (they do not diagnose cancer). They only provide a better understanding of future cancer risk.

Genetic Predisposition Tests:

• Do not determine whether you currently have cancer,
• Do not explain how or why mutations occurred,
• Do not determine the onset, course or severity of disease.

Perhaps most importantly, even if screening does not detect a mutation, this does not mean you are free of cancer risk. Cancer is a group of diseases caused by a combination of mutations in multiple genes and environmental factors, and the risk of developing sporadic cancer (arising through environmental and ageing effects) may remain. Finally, screening is costly, and the availability of genetic counselors and testing centers may be limited for some people.

Psychological, Emotional and Social Implications

Anxiety and Worry

If you have a family history of cancer, you are very likely already experiencing considerable worry when thinking about the possibility of developing cancer in the future. Anyone given the opportunity to learn whether their cancer risks are above average will feel anxious during this process.

Recent research shows that people seeking genetic counseling and testing for various cancer diagnoses have reported high anxiety levels, with greater anxiety among those with painful memories of how cancer affected close family members. Worrying in this way can actually be helpful, serving as a rehearsal or preparation for receiving test results. Some research suggests that, if you have no concerns about testing, you may be at greater risk of distress after receiving the results.

Concern about Managing the Results

When considering whether to be tested, you will probably have concerns about how others will react. It is also important to think personally about what a "positive" finding might mean for you. Will it affect your relationships, career choices, plans for children or finances? What will you do with the test result?

Research supports the idea that people are sometimes reluctant to be tested when they do not believe the result will change their current follow-up management. For example, if colon cancer runs in your family and you already undergo annual colonoscopies, you may wonder whether there is any benefit in learning your genetic status regarding Lynch syndrome. The answer naturally depends on what else you can do with this information and how your family and future generations may benefit from knowing your genetic status.

Risk Perception

Genetic counseling and testing can close gaps in a person's knowledge about a disease they believe stems from an inherited predisposition in their family.

Research has generally shown, for example, that women overestimate their breast cancer risk. Some people, particularly those with an extensive family history of cancer, are so convinced that cancer is inevitable that they emphasize being tested not to learn whether a mutation is present or absent, but to learn when cancer will develop. In many of these cases, people mistakenly believe that genetics determines their breast/ovarian cancer risks, whereas only 10-15% of these cancers are hereditary. Before testing, it may be helpful to think about your own risk perception — your chance of developing a particular cancer in the next year, in five years or during your lifetime — and discuss how realistic this assessment is with a genetic counselor.

RELATED TOPICS

• Who Should Have Genetic Testing for Hereditary Breast Cancer?
• How Should People with Hereditary Breast Cancer Be Followed Up and Treated?

Communicating with Family Members

Before testing, you may want to consider the kinds of relationships you have with other family members. Do relatives freely share medical details, or are there secrets between family members? Learning that a genetic mutation is present in a family can often bring members closer together, but can also create miscommunication and hurt. It is normal to worry about how the results might affect your family.

Biological Family

Although we hope family members will provide the love and support needed by those who choose to begin genetic screening, deciding to undergo testing can also increase resentment and general tension in families. It is therefore important to identify whom you can and want to speak to about your decision. Often, when genetic mutations are found in one family member, others may subsequently feel compelled to consider whether they want their own tests.

Older relatives may not understand why testing matters or how technology plays a role in the family's private health issues. Similarly, your parents may resist learning more about your genetic makeup because they fear you will blame them for a mutation, or they may blame themselves for causing it. Children may not understand the details of genetic testing and may believe that finding a mutation means their parent is currently ill. You may consider keeping the information to yourself, but if you are planning preventive measures, hiding the truth from close family members may be difficult.

Coping Style

Genetic cancer screening requires the capacity to deal with and manage a great deal of abstract, complex information that potentially threatens a person's bodily integrity. When dealing with health information, personality variables can greatly influence emotional responses and coping styles. One such variable involves a tendency to focus on threatening aspects of the information, concentrate on negative outcomes and continue compulsively seeking new information in the hope of soothing fears. Research shows that women with these tendencies who are awaiting BRCA1 / 2 results have higher anxiety, more intrusive thoughts about cancer and higher overall distress.

You Have Decided to Be Tested — What Next?

If you decide to be tested, you will probably experience a range of emotions throughout the process. Waiting for the results may be the most psychologically and emotionally difficult part.

Depending on where you have the test, you may wait several months or longer for the results. This period can be very difficult. You may have made a firm decision to be proactive about your health, weighed the pros and cons and now have to manage the uncertainty of a potentially long wait. The best thing to do during this time is remain optimistic, focus on other aspects of life and take good care of yourself. Anxiety and worry during this process are understandable, but dwelling on whether testing was a good idea or worrying about the result is not helpful. Time will pass, and the results will eventually reach you.

A Positive Result (Learning That You Have a Mutation in Hereditary Cancer Genes)

Anxiety commonly increases after a "positive" result because you suddenly become aware of your increased risk. You may feel more stress when having to decide on the best cancer prevention strategy for yourself. Depression and sadness are more common, especially when someone previously lost a close relative to cancer. Some people may make the process harder by identifying with the relative who died. Others may feel relieved to learn their risk status and have the uncertainty removed, and may take steps to lower their risk. Overall, most people cope well with learning about their increased risk. Speaking with a genetic counselor, psychologist or medical oncologist can help clarify many of the issues you experience.

A Negative Result — Learning That You Do Not Have a Genetic Mutation

Although this may seem illogical, learning that you do not have a genetic mutation can also increase distress. Many people seek testing to explain why there is so much cancer in their family and become more confused when no mutation is found. If cancer affects the family but a person does not have the mutation, that person may feel a form of “survivor” guilt. Often, however, people feel great relief when their individual result is negative and there is a known mutation in the family. A negative result also does not mean that you will never develop cancer; your risk remains at the same rate as the general population. Likewise, a positive test does not mean you will eventually develop cancer.

Unclear Results — Variant or Unknown Test Results

In some cases, results are neither positive nor negative. Instead, they identify a gene change not seen in other families, or there is insufficient information about the mutation to know whether it increases cancer risk. In genetics, we call this VUS (Variant of Uncertain Significance), a mutation of “uncertain clinical significance”. Learning that you have such a finding may cause:

• Confusion and worry about your cancer risk
• Frustration at the lack of accurate, personalized cancer risk information
• Difficulty making decisions about cancer screening, treatment and prevention

Conclusion

As genetic screening for hereditary cancer becomes more accessible and widespread, our understanding of its effects on individuals, family life and society will probably also develop. Current research suggests that, although many psychosocial issues need consideration during testing, the benefits of discovering one's genetic status are substantial and have the potential to reduce mortality over the long term. If you are considering genetic screening for hereditary cancer, you should do so only after consulting a medical oncologist or clinical genetic specialist who can help you make an informed decision. Speaking with a psychologist or psychiatrist familiar with genetic screening may also help you explore these psychosocial issues in greater detail.