Genetic Counseling & Testing

Genetic counseling and testing service  can help assess your risk of hereditary cancers and empower you to lower your risks or detect cancer at its earliest stages.

Genetic Counseling & Testing

Genetic counseling and testing service  can help assess your risk of hereditary cancers and empower you to lower your risks or detect cancer at its earliest stages.

Genetic counseling can help predict your risk.

Hereditary cancer is caused by changes in certain genes. Genes are the instructions that our bodies use to grow and function, and this information is passed down from parents to children. According to the American Cancer Society, an estimated 5 to 10 percent of cancer diagnoses are due to an inherited form of cancer. This means that 5 to 10 percent of people who receive a cancer diagnosis had a genetic factor that caused them to have a higher likelihood of developing the disease.

The most common hereditary cancers include:

  • Breast cancer
  • Ovarian cancer
  • Uterine cancer
  • Colon cancer
  • Pancreatic cancer

Genetic counseling is the first step in the genetic testing process. In a counseling session, you and a genetic counselor will discuss your family history, personal history with disease, symptoms you may be experiencing and other factors to assess possible health risks.

  • Estimate your risks for certain diseases
  • Estimate the risk of an inherited cancer in your family
  • Discuss ways to screen for and prevent cancer based on your risks
  • Review the pros and cons of genetic lab testing
  • Decide if genetic testing is right for you, given your particular risks and concerns

Our team will also provide you with treatment options and resources to support you through your journey.

While we offer genetic counseling services for a wide variety of diseases and disorders, many people use our services to better understand their cancer risks. Through genetic counseling and testing services, we can help you assess your risk of inherited cancers and empower you to lower your risks or detect cancer at its earliest stages.

One in three people develop cancer at some point in their lives, so chances are you or someone in your family has been affected. It’s important to remember that while a family history of cancer doesn’t mean you’ll develop cancer yourself, it may increase your risk. Genetic counseling can help you determine if you’re at a higher risk and if preventive and screening steps are right for you.

If you or a close relative, such as a parent, child, brother, sister, aunt, uncle, niece, nephew, grandparent of grandchild, have any of the following risk factors, a referral to a genetic counseling clinic may be right for you.

Hereditary breast and ovarian cancer

  • Invasive breast cancer or ductal carcinoma in situ (DCIS) diagnosed at or under age 50
  • Two or more blood-related individuals with breast cancer
  •  Male breast cancer
  • Ovarian, fallopian tube or primary peritoneal cancer at any age
  • Breast cancer and one or more other separate cancers
  • Breast cancer and large head circumference (57 cm or larger for women, 59 cm or larger for men) and/or mental retardation/autism
  • Breast cancer with Eastern European Jewish ancestry, or Hispanic/Latino ancestry from Southern Colorado or northern New Mexico

Cancers that accompany breast cancer in inherited syndromes include a second, new breast cancer; brain, thyroid, pancreatic and endometrial cancers; lymphoma/leukemia; and adrenal cortical or choroid plexus carcinomas.

Hereditary colorectal cancer

  • Colorectal OR uterine cancer diagnosed under age 60
  • Two or more separate colorectal cancers in the same person
  • Three or more blood-related individuals with colorectal or uterine cancer
  • Colorectal cancer or uterine cancer and a personal or family history of other cancers
  • Ten or more cumulative gastrointestinal adenomas or hyperplastic polyps
  • Hamartomas (non-cancerous growths), juvenile polyps or Peutz-Jeghers polyps
  • Pathology of the colorectal tumor shows microsatellite instability or evidence of a mismatch repair defect

Cancers/tumors that accompany colorectal cancer in inherited syndromes include uterine, ovarian, stomach, small intestine, pancreatic and urinary tract cancers, as well as brain tumors, sebaceous adenomas and keratoacanthomas.

Other hereditary cancer syndromes

  • An identified inherited/genetic syndrome
  • An individual with bilateral or multiple primary cancers or brain tumors
  • An individual diagnosed with cancer at an unusually young age
  • Three or more blood-related family members with the same type of cancer
  • Rare cancers, such as medullary thyroid cancer, adrenocortical carcinoma, pheochromocytoma and paraganglioma

Genetic counseling is the first step toward genetic testing. Information gathered during genetic counseling helps determine if genetic testing would be helpful in your situation.

Genetic counseling involves recording a detailed family history and using that information to estimate your risks, helping to determine if testing is right for you and which tests to perform. Genetic testing may require a blood draw or cell sample from inside your cheek that are then sent to a laboratory for analysis.

Some of the common questions asked in genetic counseling sessions include:

  • Have your relatives had genetic testing?
  • Which relatives have had cancer?
  • How old were they when they developed cancer?
  • What type of cancer(s) did they have?
  • Where did the cancer start in their body?

Your test results, family history information and evaluation notes will only be released to someone if you sign a form stating that our office can release your information to that individual or office.

The Genetic Information Nondiscrimination Act of 2008 (GINA), and other laws help protect people who undergo genetic testing against health insurance discrimination and employment discrimination. .

Find out more about GINA or view a fact sheet for more information about how you’re protected from discrimination.

Some inherited gene changes cause several medical complications. Genetic counseling and testing may determine if you’re at risk for another type of medical complication or another type of cancer in the future.

We can then take a proactive approach to your health, considering ways to prevent your risk of developing other conditions. Many people with potentially hereditary conditions seek genetic counseling and testing to help their relatives. If you already have a condition, the results of your genetic evaluation will tell you if there’s reason for your relatives to be cautious as well.

Most insurance companies will cover the cost of a genetic test if it will improve a person’s medical care and you have a reasonable chance of having a specific condition.

At CommonSpirit Health, we attempt to bill insurance for the cost of genetic counseling appointments and verify insurance coverage prior to a scheduled appointment.

Individuals whose insurance pays for genetic counseling will be responsible for any applicable co-pay. If you schedule a genetic counseling appointment, you should receive a call prior to your appointment to explain what your cost would be. (If you’d like to see if genetic counseling would be a covered benefit, contact your insurance company and ask if they cover the CPT code 96040.)

Because Medicare and some insurance companies are not yet paying for genetic counseling, CommonSpirit gives a discount to those who pay out of pocket for these services.. Depending on the length of the appointment, individuals who self-pay will be charged approximately $40 or $80. If you’re not able to make these payments, CommonSpirit may be able to help.

Genetic testing for inherited cancer syndromes has advanced rapidly in the last few years. Expanded knowledge of genetics has also led to better insurance coverage and additional testing options that allow you to receive the testing needed to make informed choices about your health. Many former patients who pursued genetic testing previously have elected to undergo new testing that has provided new information. One such patient remarked after a cause of the cancer in her family was finally found, “My family has been looking for this explanation for 20 years.”

If you were seen for genetic counseling previously, even if you received normal test results, you may benefit from a follow-up appointment. If you declined genetic testing in the past because of cost, new options may allow you to receive testing at no or very little cost. If you already had genetic testing and the results were negative or uncertain, you may qualify for additional genetic testing. Personal and family history updates may also impact genetic testing options, as well as cancer risk estimates and screening options. We recommend contacting your genetic counselor every one to two years to update your family history and see if any additional genetic testing options are available to you.

Multi-gene panels

Before 2012, genetic testing for hereditary cancer syndromes was often done one gene or one syndrome at a time. Since 2012, technology has improved to be able to test many different genes at once. We now call these tests “panels” since they analyze numerous genes of concern at one time. These panels have made genetic testing cheaper because now one test can be done instead of having to order multiple tests from different labs. Panels also allow us to test individuals for rare hereditary cancer syndromes that previously would not have been covered by insurance.

BRCA1/2

BRCA1 and BRCA2 genes have been the center of conversations surrounding hereditary breast cancer since the mid-1990s. BRCA1/2 testing that was done before 2012 didn’t always include comprehensive rearrangement testing (also called “BART”) so it’s very possible that individuals who received normal BRCA1/2 test results before 2012 could still have a BRCA1 or BRCA2 mutation that was undetected at the time.

Other hereditary breast cancer genes

In addition, many different genes have long been known to interact with BRCA1 and BRCA2. Studies have now shown that individuals with mutations in these other genes also have an increased cancer risk. Testing for these additional genes is now available.

Hereditary colorectal cancer/Lynch syndrome

Testing for hereditary colorectal cancer has also seen great advances. The most frequently identified hereditary colorectal cancer syndrome is Lynch syndrome, which leads to an increased risk for colorectal, uterine and other cancers. Additional genes that cause Lynch syndrome have been identified and more comprehensive testing of these genes is now available. New causes of hereditary colorectal cancer also have been identified. Individuals who received Lynch syndrome testing in the past could still have a mutation that wasn’t known at the time, or they may have a mutation linked to another hereditary colorectal cancer syndrome that wasn’t tested.

Other hereditary cancers

For people with other cancer types, we now have testing options that did not exist previously. For example, there are now panels available that check 19 genes for hereditary kidney cancer and 13 genes for hereditary pancreatic cancer.

In summary, genetic testing for inherited cancer syndromes has been significantly updated in recent years, and individuals may qualify for additional genetic testing even if they tested negative in the past.