Oncological genetic testing

The World Cancer Research Fund (n.d.) estimates that there will likely be greater than 18 million cases of cancer worldwide in 2020. Most people will get cancer in some form, and I’m no exception—cancer is a hereditary disease in my family. My mother was taken by breast cancer in 2008, and my father died of pancreatic cancer in 2011. My maternal aunt also died of breast cancer, my paternal grandmother died of liver cancer, but my maternal great-grandmother survived breast cancer and lived to the age of 92. Given my strong family history, I met with an oncologist and a genetic counselor to evaluate my risk. My mother was tested for the breast cancer genes, BRCA1 and BRCA2, in 2006, and each results were negative. Based on this information, the genetic counselor determined that I didn’t need additional genetic testing right now and determined that I had a 30 percent higher risk of developing breast cancer during my lifetime in comparison with the overall population. They advisable aggressive screening, including annual mammograms, which must be staggered every six months, with annual magnetic resonance imaging (MRI) of the breasts to detect cancer at an early stage.

According to the National Cancer Institute (n.d.), as much as 10% of all cancers could also be brought on by inherited genetic changes, because there are a whole lot of genetic changes, variants, or mutations that can assist cancer develop, grow, and spread. Genetic changes related to cancer can occur when:

• Random errors in our DNA occur as our cells reproduce.
• Our DNA is modified by carcinogens within the environment, resembling chemicals in tobacco, UV rays, and viruses resembling human papillomavirus (HPV).
• Inherited from one parent as a gene mutation present within the cells (egg or sperm) on the time of conception.

“Familial cancer syndrome” or hereditary cancer syndrome is a rare condition through which members of the family have an above-average risk of developing a certain variety of cancer and is brought on by inherited mutations in tumor suppressor genes that normally control cells by slowing growth or division, repairing DNA errors, or causing cells to die at the fitting time (American Cancer Society, 2022; NCI, n.d.). Some examples of familial cancer syndromes include hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (hereditary nonpolyposis colorectal cancer), and Li-Fraumeni syndrome (sarcoma, leukemia, and cancer of the brain, adrenal cortex, and breast).

What are genetic testing and genetic counseling?

People with a major family history of cancer will probably want to undergo genetic testing to assist make health care selections. Genetic testing examines tissue samples resembling blood, saliva, or amniotic fluid to search for mutations in an individual’s genes. Genetic risk assessment and counseling must be done before genetic testing and sometimes includes:

• Obtaining an in depth medical history of the patient and a three- or four-generation family history of cancer (mother’s and father’s family, age, age at diagnosis, age at death, variety of cancer, and risk-reducing surgical procedures).
• Discuss gene testing options – several genes could also be accountable for a cluster of cancers in a family. Discuss how the outcomes may impact treatment.
• Patient education about cancer genetics – all first-degree relatives of a carrier have a 50% likelihood of inheriting the identical mutation.
• Providing information on testing, management, prevention, resources and research
• Counseling to provide help to make informed decisions

Who should get tested?

Patients must be referred to a genetic specialist in the event that they have a number of of the next conditions (American Cancer Society, 2023):

• Several first-degree relatives (mother, father, sisters, brothers, children) with cancer
• Multiple relatives on one side of the family who’ve had the identical variety of cancer
• A bunch of cancers in your loved ones which might be known to be linked to a single gene mutation (breast, ovarian, and pancreatic cancers)
• Family member with a couple of variety of cancer
• Family members who developed cancer at a younger age than is typical for that variety of cancer
• Close relatives with cancers related to rare hereditary cancer syndromes
• Family member with a rare cancer (e.g. retinoblastoma)
• Ethnicity (e.g. Jewish heritage is related to ovarian and breast cancer)
• Physical examination findings consistent with hereditary cancer (e.g., multiple colon polyps)
• Known genetic mutation in a number of members of the family who’ve undergone genetic testing

Understanding Genetic Test Results

Genetic test results might be very confusing. Genetic counselors can assist people interpret the outcomes, understand their cancer risk, and consider options to cut back that risk. Results might be positive, negative, true negative, or variant of uncertain significance (VUS). Let’s take a look at what these terms mean (Centers for Disease Control and Prevention [CDC]2022):

• – A genetic mutation has been found and the patient is at increased risk of developing cancer. This finding can assist determine risk reduction options, resembling increased screening or risk-reducing surgery.
• – There was no mutation within the genes tested, nonetheless there could also be a mutation in one other gene that was not tested, or the mutation was not detectable within the genes that were tested using current technology. Cancer risk and screening are based on the patient’s history and family history.
• – The patient tested negative for a known mutation that was detected in a member of the family. The risk of developing cancer will not be zero.
• – A change in DNA has been detected which will or may not affect gene function. The patient doesn’t have an increased risk of cancer, but the chance will not be zero either. This result mustn’t be used to make treatment decisions.

What role do nurses play in genetic counseling and testing?

Genetic counseling must be performed by providers who’ve received appropriate education, training, a master’s degree, and certification from the American Board of Genetic Counseling. The American Nurses Association (ANA), in collaboration with the International Society of Nurses in Genetics (ISONG), has established core competencies for nurses who provide genetic counseling, and the American Nurses Credentialing Center now offers a complicated genetics nurse practitioner (AGN-BC) certificate for nurses with a master’s degree who specialise in genetics. Additionally, the ANA, ISONG, and the National Coalition for Health Professional Education in Genetics have established the “Core Genetics and Genomics Competencies for Postgraduate Nurses.” This describes quite a lot of ways in which nurse practitioners (NPs) can support patients through the genetic testing process, including:

• Identification of patients for referral
• Preparing patients by explaining the advantages, risks, and limitations of testing
• Managing care after results are received and ordering cancer screening tests as needed to cut back risk
• Providing emotional support

Genetics is an emerging field that influences most of today’s medical conditions. New innovations in screening and testing proceed to emerge, and latest cancer-causing genes are being discovered. Last yr, I underwent a full genetic panel and am pleased to report that the outcomes were negative. However, I still have annual MRIs and mammograms.

Nurses play a very important role in providing information and education to their patients. Having a basic understanding of those complex and confusing concepts provides nurses with the abilities mandatory to support their patients.

:

American Cancer Society. (2023, October 24). Understanding genetic testing to find out cancer risk. https://www.cancer.org/cancer/cancer-causes/genetics/understanding-genetic-testing-for-cancer.html

American Cancer Society (2022, September 14). Family syndromes related to cancer. https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes.html

Centers for Disease Control and Prevention (2022, June 24). Genetic testing. https://www.cdc.gov/genomics/gtesting/genetic_testing.htm

National Cancer Institute. (n.d.). Cancer Genetics. National Institutes of Health. Retrieved February 20, 2024, from https://www.cancer.gov/about-cancer/causes-prevention/genetics

National Society of Genetic Counselors. (n.d.). About Genetic Counselors. Retrieved February 21, 2024, from https://www.nsgc.org/About/About-Genetic-Counselors

World Cancer Research Fund. (n.d.). World Cancer Data: Global Cancer Statistics for the Most Common Cancers. Retrieved February 20, 2024, from https://www.wcrf.org/dietandcancer/cancer-trends/worldwide-cancer-data