Genetic services deliver options for cancer care

When you or a loved one faces a cancer diagnosis, you may wonder if the cancer is an inherited one and if others in your family could be at risk for the same or similar cancer. Knowing this information can help guide care plan decisions, including increased cancer screening, considering medications to lower cancer risk, and preventive strategies. It can also sometimes guide the decisions you and your doctor make about cancer treatment. Specialists at Ascension St. Vincent sites of care in Indianapolis, and Evansville, and telehealth at Anderson and Kokomo, Indiana, can connect you and your family to the latest genetic tests and genetic counseling. Our experienced cancer doctors and genetic counselors are part of a national team, sharing best practices and the latest in genomic medicine – bringing the best of cancer care to you. Every appointment with your doctor starts with a compassionate conversation. If gene testing is part of your care plan, we’ll connect you with a genetic counselor who will evaluate your family health history and answer your questions – big and small. 

Your certified genetic counselor at Ascension St. Vincent is board-certified by the American Board of Genetic Counseling specializing in oncology. Our genetic counselors are licensed by the State of Indiana, a requirement for this state. At your in-person or telehealth appointment we’ll explain the risks of inherited cancer and how genetic testing can be useful as part of your care plan, as well as the impact on care for family members. 

Genetic testing for hereditary cancers

Some cancers can run in families. If you have family members who have or have previously been diagnosed with cancer, talk to your doctor to see if you should be referred to a genetic specialist to help determine if you should have hereditary cancer testing or more frequent cancer screening based on your family history. Cancers that are caused by inherited genes are called hereditary cancer syndromes. Oncologists and genetic specialists at Ascension St. Vincent Cancer Care in Indiana diagnose and treat many types of cancers that may be hereditary, including:

• Breast cancer in women and men – approximately 5% to 10% of breast cancer in women and as much as 20% of breast cancer in men is caused by a mutation in the BRCA1 or BRCA2 gene. However, these two genes make up just half of all hereditary causes of breast cancer. Other genes include PALB2, ATM and CHEK2. 
• Gynecological endometrial cancer – about 3% of endometrial cancer is due to Lynch syndrome. Screening for Lynch syndrome is often done at the same time as a biopsy or removal of a tumor, but testing on a blood or saliva sample is necessary to confirm the diagnosis. There are also a few other rare hereditary causes of endometrial cancer.
• Gastrointestinal (GI) colorectal cancer – Approximately 5% of all colon cancer is due to hereditary causes. The most common GI hereditary cancer is Lynch syndrome caused by a mutation in one of several different genes (i.e., MLH1, MSH2, MSH6, PMS2 or EpCAM). These genes are associated with an increased risk for colon and gastric cancers, gynecologic cancers (endometrial and ovarian), and other cancers. Often, a colon tumor is screened for the possibility of Lynch syndrome at the time it is biopsied or removed. Other rare genes that can increase the risk for colon cancer include STK11, BMPR1A, SMAD4, POLB, and POLD1.
• Gynecological cancers (ovarian) – up to 25% of ovarian cancer has an underlying hereditary cause, and all individuals with ovarian cancer should talk with their doctor about genetic testing. The most common cause is a mutation in either BRCA1 or BRCA2, but genes related to Lynch syndrome, RAD51D, RAD51C and other genes may be included when testing is done.
• Pancreatic cancer – up to 10% of pancreatic cancer is hereditary. If you are diagnosed with pancreatic cancer, talk to your doctor about genetic testing and treatment options. The most common genes linked to hereditary causes of pancreatic cancer include BRCA1, BRAC2, Lynch syndrome, ATM and PALB2, although there are others.

Genetic testing is available for many other genetic syndromes, including (but not limited to):

• Cowden syndrome (PTEN gene mutation is linked to multiple noncancerous tumors and breast, thyroid, kidney and uterine cancer.)
• Hereditary leukemia and myelodysplastic syndrome (dysfunctional blood cells that can cause anemia and other blood cancers). When a person has leukemia or another blood cancer, this type of testing needs to be done on a skin biopsy.
• Familial adenomatous polyposis (FAP), previously referred to as Gardner’s syndrome, and attenuated FAP is linked to an increased risk for multiple precancerous colon polyps and cancer. There are also other hereditary polyposis syndromes, including those associated with having a MUTYH enzyme.
• Li-Fraumeni syndrome (LFS) (TP53 gene mutation is associated with an increased risk for developing several types of cancer.)  
• Multiple endocrine neoplasia syndrome (MEN1 and MEN2 is linked to neuroendocrine tumors in the pancreas, parathyroid, pituitary or thyroid glands.) 
• Von Hippel-Lindau syndrome (VHL gene mutation is linked to an increased risk for benign blood vessel tumors of the brain, spine, retina, as well as renal cell cancer, neuroendocrine tumors, and pheochromocytoma.)

Benefits of having your cancer genetic tests at Ascension St. Vincent

Your doctor may recommend hereditary genetic testing using blood or saliva or from a skin DNA test. Your care team coordinates lab tests for you. Many of these tests require pre-approval from your health insurance. And hereditary cancer testing should include a discussion with a healthcare provider who is knowledgeable about hereditary cancer testing, such as a board-certified genetic counselor or an advanced practice provider with certification in genetics. These types of consultations can take place either in person or through a virtual visit (telehealth). 

Genetics providers review the risks, benefits and limitations of genetic testing with you. They also explain the options for genetic testing and the possible test results. After testing, genetics providers explain genetic test results in plain language, and discuss the possible impact on treatment, recommended screening guidelines and the possible impact on family members. When needed, we connect the dots to advanced care and treatment. 

Tumor genetic testing

If you are diagnosed and being treated for cancer, your doctor may recommend another type of test called a biomarker test to look for genes, proteins, and other substances called biomarkers in the tumor. This information can help your oncologist deliver targeted treatments for your type of cancer. This type of testing is ordered by your doctor (not the genetic counselor) and is usually done on a tumor sample. Biomarker tests can also help your specialist identify advanced cancer treatments and clinical trials that may support your care plan. 

Financial assistance and support is available

Genetic counseling is covered by many insurance plans, including Medicaid in most states and Medicare, when certain criteria are met. We can connect you with resources and programs that may be able to help you and your family with options for financial assistance. Our financial counseling team is here to listen to your concerns and work with you to help find options that meet your needs.

Your genetics provider will evaluate your personal and family history to see if you meet the criteria set up by your insurer. For those who do not meet the criteria, or with no coverage for genetic testing, there are low-cost and self-pay options. For those who do not have insurance coverage, some laboratories provide financial assistance to cover most or all of the cost.