Genetic Testing: What to Know
Advancements in medicine have extended to new and more sophisticated ways in which not only to treat cancer but, in some cases, to predict it. Genetic testing to assess for cancer risk was first introduced in 1996 with the release of screening for breast cancer through the BRCA 1 and BRCA 2 gene mutations. Much has changed in the past twenty-five years.
All those changes and advancements in genetic testing have led to implications that go beyond just medical information. Having information is one piece of the puzzle, but knowing what to do with the information can be its own challenge. There are ethical, psychological, and relational implications that are still unfolding.
“Understanding what to do with hereditary cancer information is important. You can use it to make informed decisions about your health and cancer treatment and discuss cancer screening or prevention options with Dr. Gundala”, explains Scott M. Weissman, Genetic Counselor, who partners with Hope and Healing Cancer Services.
To better understand genetic testing and how it relates to cancer, read along for a breakdown of the process, what is involved, who it impacts, and who is a recommended candidate for it.
What is genetic testing?
Genetic testing uses individual genetic samples found in blood, saliva, or tissue from the skin or a swab of the cheek to search for specific variants or mutations in a person’s genes or genetic code. Variants identified through testing can be categorized as harmful, beneficial, or neutral. Roughly 5-10% of all cancers are caused by inherited genetic variants.
What does a genetic counselor do?
Genetic counselors are health care professionals with master’s degrees and specialized training. They work with patients undergoing genetic testing by reviewing tests, discussing results, supporting individuals and families to process and understand the meaning of results, and communicating with others on the healthcare team to understand the implications of genetic testing.
Why are genetic counselors important?
They are called counselors because they counsel and provide guidance. Genetic testing provides results that will impact the life of the patient and those the patient is genetically related to, their family, in good or bad ways. When health is at stake, things can quickly feel overwhelming. Genetic counselors are uniquely qualified both to understand the science of genes and help patients deal with and process the results of their testing and how they impact the individual patient and their family.
What are the benefits of genetic testing?
A negative genetic test can provide peace of mind for the patient while a positive test, though unfortunate, can provide a patient with the opportunity to understand their risk better and manage the options for their increased risk of cancer. A positive genetic test also provides important information for relatives who share genetics with the patient.
What are the negative impacts of genetic testing?
There is a lot of psychological and emotional stress involved with knowing you are at a higher risk of being diagnosed with cancer. When you have that knowledge, there is pressure felt about what you do with it. Do you act preemptively to address the risk of cancer developing at a later date? Do you discuss results with family? Does it feel like a ticking time bomb waiting to explode? Informed and experienced support and guidance are a must with genetic testing.
Who should consider genetic testing for cancer?
Anyone who has a higher risk factor for hereditary cancer should consider genetic testing and discuss it with their physician. That includes:
· Anyone with three or more family members (on the same side) with the same or related cancers;
· Anyone who has two or more relatives diagnosed with cancer at an early age;
· Anyone who has a single relative who has been diagnosed with multiple types of cancer;
· Anyone who has a relative who has been diagnosed with a very rare type of cancer.
Dr. Srilata Gundala, founder and owner of Hope & Healing Cancer Services in Hinsdale, Illinois, has worked with many patients over the years to navigate the benefits and challenges of genetic testing, “These tests are never ordered or taken lightly. There is a gravity to knowing things and having access to information that you can never unknow. I work closely with my patients and their families to process their test results and chart a path about how to move forward with the information genetic tests provide. They say knowledge is power, and I believe that when applied to genetic testing, that knowledge also comes with great responsibility. Patients require support and guidance, not just medically, but also emotionally and psychologically, with this type of testing.”
If you have questions about genetic testing and wonder if you are a candidate for it, speak directly to your physician to learn more about your unique situation.
Written By: Sheila Quirke, MSW
Reviewed By: Srilata Gundala, MD
