People with a presumed hereditary risk for cancer have more options than ever when it comes to calculating the reality of that risk. The possibilities are both empowering and daunting. What tests are they eligible for? Will insurance cover the testing? And what implications do the results have? To lay patients, the questions may be endless, but oncology nurse genetics counselors can help them understand and navigate their options.

What Genetic Testing Can Mean for Insurance Coverage

U.S. citizens’ rights to healthcare insurance are protected under Genetic Information Nondiscrimination Act (GINA), but the law does not include life, disability, or long-term care coverage. This is significant for anyone genetically predisposed toward a debilitating disease.  

For example, if your genetic testing reveals a high risk for Alzheimer disease, and you attempt to purchase long-term care insurance to safeguard your future, an insurance company could demand to see the results of your test, or they could even potentially require a genetic test before selling you coverage.  

Having health insurance coverage while you are working is helpful, but what happens if you can no longer work and require long-term care? Unfortunately, what is discrimination for customers is survival for insurance companies; business would suffer if most people purchasing long-term coverage required long-term care. 

“Personalized medicine is enabling patients to make difficult choices about care with more solid information and feel more comfortable about those choices,” says Suzanne Mahon, RN, DNSc, AOCN®, APNG, professor in the Division of Hematology/Oncology, Department of Internal Medicine, and School of Nursing at Saint Louis University in Missouri. 

“I see this on a regular basis when I offer genetic testing for people with hereditary risk. It is not uncommon for me to see women newly diagnosed with breast cancer who are trying to make a decision about mastectomy or lumpectomy, and genetic testing results will often help them make a prudent decision. I see even more patients who are nonaffected with cancer in whom genetic testing results guides difficult decisions about prophylactic surgery and aggressive cancer screening,” 

Shifting From Reactive to Proactive

Thanks to genetic testing, patients no longer have to wait until a cancer diagnosis is made for them to take steps to protect their health. Rather, they can be proactive about prevention options based on their specific risk.

“The paradigm of how we look at each individual and his or her cancer is changing. It’s even expanding to how we look at ‘previvors’ (i.e., those who have strong family history or known mutations which may increase their risk). Patients now have options and choices, including surveillance schedules, prophylactic surgeries, and chemoprevention, that are either standard of care or part of clinical trials,” says Alice Kerber, MN, APRN, ACNS-BC, AOCN®, APNG, an oncology nurse and genetics counselor at the Georgia Center for Oncology Research and Education in Atlanta. 

 “We have more biomarker prognostic and predictive testing used on a broader scale as a result of College of American Pathologists and National Comprehensive Cancer Network guidelines with evidence-based recommendations,” Kerber says. “For example, just a few years ago, we looked at lung cancer primarily in a histologic sense as non-small cell and small cell. Today, we recognize that greater than 50% of lung cancers are associated with a mutation for which we have either a prognostic or predictive marker. The numbers of drug-driven testing scenarios is growing. Personalized medicine can be related to genomics, genetics, treatment, and surveillance.”

Who Should Receive Genetics Counseling?

Mahon says that there are several red flags for those at risk who should be referred for evaluation, including the following.

  • Any family that has a known hereditary susceptibility mutation
  • An earlier age of onset of cancer
  • Male breast cancer in the family
  • Bilateral occurrence of cancer
  • Two or more different types of cancer occurring in the same relative
  • Multiple family members affected with a diagnosis of cancer both across and within generations
  • Certain ethnicities

“Some hospitals include genetic testing as part of the diagnostic workup, particularly when the individual is diagnosed under the age of 40 or their cell type or behavior is consistent with a mutation,” Kerber adds.

Three-Generation Pedigrees Have Family Value

That famous pea planting monk, Gregor Mendel, discovered laws of inheritance by observing his garden. In a similar fashion, your healthcare professional can learn valuable clues about your risk for certain diseases by studying your family tree.  

In 2004, the U.S. surgeon general launched the Family Health History Initiative, which has a website dedicated to helping ordinary people prepare a three-generation family pedigree to share with their healthcare professionals.  

Questions target six diseases associated with inheritance (heart disease, diabetes, stroke, breast cancer, colon cancer, and ovarian cancer) as well as information on where your family came from.  Three-generation family health histories assist healthcare professionals with detailing a preventive screening and health intervention plan individualized to you.

Mahon encourages seeking out the help of a credentialed genetics professional, who has “the training and expertise to evaluate a pedigree, assess risk of carrying a mutation, order the correct genetic test, interpret test results, and provide coordinated care for the entire family. However, family histories are often less than accurate. Even when a three-generation pedigree is constructed, it may be difficult to see hereditary risk because of inaccurate information or limited family structure. For these reasons it can be challenging to decide if testing should be offered and to interpret the results of testing,” she says.

 “The most challenging aspect of genetic testing and perhaps the biggest risk is that results are often noninformative,” Mahon continues. “This is a common occurrence when a family with a history suggestive of hereditary risk tests negative for the common mutations associated with a hereditary cancer syndrome. This does not mean that there is not hereditary risk; it means that they tested negative for that particular mutation.” 

Barriers to Genetic Testing

One of the roles of a genetics counselor is to identify and help patients overcome barriers surrounding testing so they can make the best decisions.

Finances: The reality of payment can’t be ignored. “Genetic testing is expensive,” Mahon says. “However, the recent Supreme Court decision that genetic laboratories cannot patent genes will probably eventually lead to more competition and possibly lower prices for genetic testing for some hereditary cancer syndromes.”

Does insurance cover testing? Sometimes, Mahon says. “Medicare has specific guidelines for scenarios in which testing is and is not covered. Medicaid programs vary from state to state, but they also usually have specific guidelines. Private insurance guidelines vary, but in many cases it is covered if risk of a mutation hits a defined threshold. Preauthorization is typically performed prior to testing.”

Mahon says that the current challenges center around patients who are uninsured or underinsured. “At Saint Louis University, the Hereditary Cancer Program follows a unique but successful model to assist with the costs of genetics counseling and testing. My salary is covered through charitable funding. Anyone can access counseling and education, and if genetic testing is appropriate for an uninsured or underinsured patient, I explore resources to pay for the costs. Some companies have safety net programs, and the Hereditary Cancer Program has a pool of funding to assist if patients demonstrate financial need.” 

Discrimination: Another reality for patients is genetic discrimination. Mahon says that her “precounseling sessions also include a discussion of genetic discrimination. Because of the GINA legislation, it is illegal for employers to use genetic information in hiring, evaluation, or job termination decisions; GINA also protects against discrimination for those seeking group health insurance. Those who have a known hereditary risk for developing cancer can face increased premiums for life, disability, and long-term care insurance, and they should be instructed of these risks and perhaps purchase policies prior to testing.

“Genetic science is exploding,” Mahon says. “Clearly there is going to be a need to have a larger pool of credentialed genetics providers to serve those at risk. Genetics professionals are specifically trained in risk assessment and ordering and interpreting the test which does result in fewer errors.”

You Tell Us! How do you discuss family history and risk for cancer with patients? Visit the ONS Connect website to share your answer.