If you are like me, you have probably wondered about your chances of developing cancer. I have always heard that family history and genetics are potential risk factors. Thanks to The Christ Hospital, there is a unique program available that assesses both of these and helps determine your risk, as well as determining an individualized treatment and prevention plan as needed. I talked to Burns Blaxall, PhD, Director of Precision Medicine at The Christ Hospital, about how genetic screening works, what exactly precision medicine means, and how potentially life-saving they can be. 

What is precision medicine? 

Dr. Blaxall: Precision medicine optimizes medical care by using genetic, molecular and diagnostic data to individualize treatment and prevention.  A key component of precision medicine is a transition from reactive to preventative health care, including proactive assessment of hereditary disease risk.  

What is genetic counseling? 

Dr. Blaxall: Genetic counseling is the process of reviewing and evaluating a patient’s personal and family history to determine that person’s risk for an inherited health condition, like cancer. Genetic counselors have training in both medical genetics and counseling.  They help to determine a patient’s risk for an inherited medical condition, review the pros and cons of genetic testing, and discuss the available testing options. Genetic counselors also counsel patients on test results and discuss with them the next steps in their screening and management based on their results.

How much does your family history play into your chance of getting cancer?

Dr. Blaxall: A family history of cancer can be a strong contributing factor to evaluating a person’s risk for developing cancer. The level of risk depends on the types of cancers and the ages of diagnosis of those cancers in the family history. Some cancers are more or less suspicious than others when evaluating inherited cancer syndromes.

How does the genetic screening work and what are the steps that you take during the screening?

Dr. Blaxall: The first step of genetic screening involves questions about an individual’s personal health and family history, as well as factors that have been linked to cancer risk, such as pregnancy history, hormone exposure, environmental exposures (such as smoking), etc. Family history questions identify family members with diagnoses of cancer, ages of diagnosis, types of cancer, and other significant health conditions. This information is evaluated with risk models as well as national guidelines to determine if the patient is at increased risk for hereditary cancer conditions (or other genetic conditions), and offers genetic testing accordingly.

What is GIA? 

Dr. Blaxall: GIA is a Genetic Information Assistant, an artificial intelligence chatbot that helps to evaluate an individual’s hereditary cancer risk.  Patients interact with this chatbot prior to a scheduled visit to help evaluate hereditary cancer risk and guide recommendations for genetic counseling and testing as well as screening and treatment.

What are the advantages to being able to use the GIA chatbot? How does it make it more convenient for the patient?

Dr. Blaxall: The key advantage of the chatbot is the ability to answer questions about personal health and family history with plenty of time in advance of an appointment.  The chatbot can be paused to allow for verification of the answers to certain questions, such as what type or age of diagnosis of a particular cancer was identified in a family member.

What happens if you are considered high risk for cancer?

Dr. Blaxall: If an individual is considered to be “high-risk” it is strongly recommended that the individual has a genetic counseling appointment to discuss the risks and benefits of undergoing genetic testing, and to discuss how the results will impact the patient and her/his family members. In many cases it is also strongly recommended that this individual be assessed by a provider familiar with patients at elevated risk for cancer who can further discuss screening options as well as recommendations and patient management (e.g. order appropriate screening imaging, discuss potential surgical and medical interventions, etc.).

What are the costs of the screening and does insurance usually cover it?

Dr. Blaxall: The hereditary cancer risk evaluation by GIA prior to any visit is free.  Some insurance plans may cover a genetic counseling visit.  Almost all insurance covers the cost of genetic testing for patients who meet guidelines.  Most insurance plans will pay for a visit with an advanced practice provider.  We also offer a maximum out-of-pocket rate of $150 for the bundled visit with the genetic counselor and advanced practice provider.  Most patients pay $0 for their testing.  However, the maximum out of pocket cost is $250 per test.  Importantly, if a pathogenic variant (mutation) is identified, ALL blood relatives of that patient receive FREE genetic testing for up to 150 days.  Finally, an incredibly generous donation allows us to offer financial coverage to eligible patients who cannot afford a visit to the high-risk cancer screening clinic.

How will results play into future appointments?

Dr. Blaxall: If genetic testing identifies a pathogenic variant (mutation) that places the patient at increased risk for certain cancers, additional cancer screening and possibly prophylactic medicines or surgeries may be recommended. Even if genetic testing does not identify a mutation, it will likely be advised that the patient be followed by a provider who is familiar with patients at high risk for cancer (or other health conditions) due to personal risk factors and family history, as additional interventions may be recommended.

How important is it to be proactive when it comes to knowing your cancer risk?

Dr. Blaxall: Having a positive result does not guarantee that a person will get cancer, but it does make it more likely. The most effective way to identify and treat cancer is with early detection.  Therefore, proactive assessment of hereditary cancer risk allows patients, their family members and their health care providers the opportunity to take steps towards reducing risk and early detection for certain types of cancer.

As you can see, early detection is key,and knowing if you are high-risk for developing cancer due to family history or genetics can make huge difference in taking proactive steps for your health. Interested in learning more? Check out how precision medicine at The Christ Hospital can help you or a loved one.