Genetic counseling and cancer

DEFINITION: Genetic counseling in terms of cancer is the activity of health care professionals who have received specialized training in genetics and therapy or counseling in helping people determine, evaluate, and understand their individual risk of the occurrence or recurrence of cancer. Genetic counselors help people determine if genetic testing is right for them, and they also help people cope with the information they receive and plan a course of action. Genetic counseling takes place before, during, and after genetic testing.

Why performed: Genetic counseling is intended to provide information to people about their risk for the occurrence or recurrence of a specific type or types of cancer. Genetic counselors are not able to determine the risk that a specific individual will develop any type of cancer, but rather can determine the risk of specific cancers for which the person is believed to be at increased risk.

People are usually considered good candidates for genetic counseling if they have an unusually high number of close relatives with a certain type of cancer, have relatives who have had multiple types of cancer, have had very unusual cancers, or have developed cancer at an unusually young age.

The risk assessment done during genetic counseling can give people important information that can help them make the best possible medical and lifestyle choices. For example, if a woman finds out that she has an extremely elevated risk of developing breast cancer, she may consider the option of preventive breast tissue removal. People found to have an increased likelihood of developing cancer can work with their physician and other medical professionals to help develop more intensive screening regimens to ensure that the cancer will be caught as early as possible if it does develop.

Steps of the procedure: The genetic counselor discusses and explains the possible risks and benefits of testing and also the type of results people can expect to receive. The genetic counselor also evaluates people to determine if they are suitable for genetic counseling, in terms of both possible cancer risk and mental health.

If a genetic consultation does take place, the first thing that a genetic counselor does is develop a pedigree for the individual. This is a type of family tree that lists information relating to cancer and health. These trees usually go back three generations, if possible. Developing a pedigree can be a complex and time-consuming process, as the person may need to contact extended family, find old medical records, and search for death certificates to provide as much detailed information as possible.

The genetic counselor also determines which genetic tests are appropriate and helps set up all necessary appointments. Often, the genetic counselor provides support services just before testing is done to help prepare the person for the results and to provide an opportunity to rethink the decision to undergo testing. Similarly, the genetic counselor engages in counseling before presenting the result of the pedigree and genetic testing to the individual. The person may decline to view the results at any time during the entire process, right up until the genetic counselor actually discloses the results.

After the results have been disclosed, the genetic counselor will help the individual identify what feelings and emotions the results have caused, and help the individual work through them. The counselor will also provide information and referrals for further services, such as preventive options and additional mental health resources. The genetic counselor can also help the individual work through the important decisions that need to be made, such as who should be told and how best to share the news.

Benefits: There are many possible benefits to genetic counseling. People who decide to undergo genetic counseling and testing are provided with information that can help them make important decisions that can significantly improve lifetime health.

If the results of the genetic testing and the pedigree show that a person is at an increased risk, knowing this information can be very beneficial, even if extremely upsetting. The person can work with a physician and other health care team members to come up with a plan to reduce any environmental factors that are believed to also lead to an increased risk of developing the cancer. The healthcare team can also help the person ensure that regular screening is done so that if the cancer develops, it will be diagnosed as early as possible. Family members of the person can also be informed that they may be at an increased risk of developing the cancer so that they can seek genetic counseling themselves or can work with their healthcare team to take appropriate preventive and screening measures.

If the results show that the person is not at an increased risk of developing the type of cancer of concern, this can have significant positive benefits. The relief felt by the person may lead to better mental health, especially if the likelihood of developing cancer was believed to be extremely high. The person may also feel at ease knowing that any children will not inherit the genetic predisposition to develop the cancer.

Risks: If the results of the genetic testing and pedigree show that a person is at an increased risk of developing cancer, it can cause significant emotional upset, turmoil, and fear. It is important for the genetic counselor to help the person explore and work through some of the emotions that a determination of increased risk causes. Emotions such as hopelessness, fear, and depression are not uncommon after the results of a genetic test are revealed. The genetic counselor can also make referrals or recommendations for additional mental health care if it is indicated.

A determination of a high level of risk can also place a significant strain on family relationships. People have to decide with whom to share the newly received information. Finding out that a family member is at an increased risk of developing cancer can cause feelings of fear and sadness. It is very important to help family members understand that having an increased risk of developing cancer does not mean that the person will definitely develop cancer. People must also decide whether to share the information with extended family members. This can cause strained relationships as difficult issues are brought up.

There are risks to genetic counseling, even if the eventual determination is that the person is not at an increased risk. This determination does not mean that the person will definitely not get cancer; it only means that the person’s risk of developing the cancer is not believed to be above that of the general population. There is still some chance that cancer can develop. One risk of genetic counseling is that people who are found not to be at an increased risk may neglect important, normal screening procedures, such as regular mammograms.

There are some risks that those who undergo genetic counseling will be subjected to discrimination in employment or have problems obtaining life or health insurance—the Affordable Care Act requires insurance companies to cover testing for women with elevated genetic risks for breast or ovarian cancer. People should discuss their insurance options with a genetic counselor or other knowledgeable health care professional before undergoing genetic counseling. People may also want to consult other sources of information such as insurance companies, a lawyer, or government websites.

Bibliography

Chen, Harold. Atlas of Genetic Diagnosis and Counseling. 2nd ed. New York: Springer, 2012. Print.

“Genetic Counseling and Testing FAQs.” MD Anderson Cancer Center, www.mdanderson.org/prevention-screening/family-history/faqs.html. Accessed 12 July 2024.

Offit, Kenneth. Clinical Cancer Genetics: Risk Counseling and Management. 2nd ed. New York: Wiley, 2012.

Pupecki, Sandra R., ed. Genetic Screening: New Research. New York: Nova Science, 2006. Print.

Schneider, Katherine A.. Counseling about Cancer: Strategies for Genetic Counseling. 3rd ed. New York: Wiley, 2012. Print.

Skirton, Heather, Christine Patch, and Janet Williams. Applied Genetics in Healthcare: A Handbook for Specialist Practitioners. New York: Taylor, 2005. Print.

Stern, Alexandra Minna. Telling Genes: The Story of Genetic Counseling in America. Baltimore: Johns Hopkins UP, 2012. Print.

“What Is Genetic Testing? Understanding Genetic Testing for Cancer.” American Cancer Society, 3 July 2024, www.cancer.org/cancer/risk-prevention/genetics/genetic-testing-for-cancer-risk/understanding-genetic-testing-for-cancer.html. Accessed 12 July 2024.

Young, Ian D. Introduction to Risk Calculation in Genetic Counseling. 3rd ed. New York: Oxford UP, 2007. Print.