A few months ago, two sisters published an essay in The New York Times about their genetic testing journey, which started because their mother was found to have a mutation in one of the BRCA genes. People who have a mutation in one of the BRCA genes are at increased risk to develop several types of cancer, including those of the breast, ovary, prostate, and pancreas. Certified genetic counselors work with patients to determine whether they are good candidates for genetic testing and which genetic test is best for them based on their personal and family history of cancer, and other factors. The sooner we know about these mutations, the sooner the healthcare team can offer patients and their families cancer screening and risk reducing options. These medical options may detect cancer sooner, when it is more likely to be curable. Some of the options significantly reduce the risk of ever developing certain cancers. Genetic testing can also be used to match patients with cancer to targeted precision medicines that may more successfully treat these cancers.

The sisters in the Times article, Leah and Emma, stated that they each had genetic testing at age 20. The testing revealed that Emma has the BRCA mutation found in their mother, but Leah does not. Emma is currently healthy but is at high risk to develop several types of cancer in her lifetime. BRCA-related cancers often occur at younger ages, so screening should generally begin by age 25. Emma will likely be advised to begin frequent screening with tools, such as mammograms and breast MRIs, that are not offered to other women her age who are at average risk to develop breast cancer. Because we’ve learned about this genetic risk before this person develops cancer, it’s a win, right?

Medically, yes. Knowing about these mutations ahead of a cancer diagnosis alerts a patient and their healthcare team to the increased cancer risk months, years, or decades before the patient would qualify for general population screening. This knowledge can help prevent or detect cancer at an earlier stage when it is not only more survivable but less expensive to treat.

But how does this knowledge impact the person financially? This topic has not received sufficient attention. As a genetic counselor who ran a well-known cancer genetics program for almost two decades, I focused on getting the patient’s genetic testing covered by insurance, need-based funds through testing companies, or private funds we collected for this purpose. We wrote letters of medical necessity, fought for risk-reducing surgeries in the early days before there was widespread insurance coverage for them, and guided patients and their providers as they developed screening and risk reduction plans. But what we didn’t know is how much of those downstream costs fell on our patients to pay out of pocket.

The authors of the Times article describe several gaping holes in our approach to genetic testing and management. The Affordable Care Act (ACA) requires that most private healthcare insurers cover some genetic testing for those with, or who appear to be at increased risk for, certain cancers. However, the ACA does not require private insurers to cover the cost of the screening tests and risk-reducing options that are deemed medically necessary if a person is found to have a mutation with one of these approved genetic tests.

Think about that last sentence for a moment. We encourage people to have genetic testing to learn if they are at high risk to develop cancer. And if they are at high risk, their insurance companies may not cover the very screening tests that they – and their family members – need to keep them healthy and alive.

This is the first of a series of articles that will explain and detail the financial toxicity in oncology care and genetic testing and highlight proposed legislation designed to deal with it. These articles will explore ways in which payers and digital health companies can work together to carve a path for patients to get necessary services paid for after they receive a genetic diagnosis. The promise of precision medicine has the potential to allow us to determine which people are at increased risk for many conditions, to reduce their chance of ever developing those diseases, or to diagnose them sooner and match them with treatments that are more likely to work. Essentially, we can see the cards ahead of time and change the deck. But this will only be successful if we can avoid both disease and financial hardship. That goal must be front and center as we move forward with precision medicine.