Genetic testing once was offered only to people with rare genetic conditions, or strong family histories of disease that spanned generations. But genetic testing is now being offered to healthy people, to detect if they carry a genetic change (often referred to as a “variant” or “mutation”) that may place them at high risk to develop preventable conditions, including some cancers and cardiac conditions.
In theory, population genetic testing makes sense. Instead of waiting for a person to die of a heart attack at a young age, we can learn of some of those risks ahead of time and mitigate them. This approach works not only for the person having testing and their family members – who may also be at risk – but also for our medical system, employers, and overarching health care costs that we, as a society, want to minimize.
But in practice, are we there yet? Cristi’s story illustrates that we still have a long way to go to make population genetic testing a win for the patient and their family members. Cristi is a certified genetic counselor who, like many of us, knew that several members of her family had developed cancer. But the cancers in Cristi’s family did not fit into a known hereditary cancer syndrome. Cristi’s mom had genetic testing based on her personal history of a brain tumor and melanoma, and family history of breast and prostate cancer, and no mutations were found in her DNA. So when Cristi signed up for genetic testing to check the customer experience of a population-based screening program offered by her company, she was surprised to learn that she carried a pathogenic variant in a gene called RET.
People who carry a RET variant have a syndrome called Multiple Endocrine Neoplasia 2A (MEN2A) and are considered to have an almost 100% chance of developing an aggressive type of thyroid cancer called medullary thyroid cancer. For this reason, people with MEN2A have traditionally been counseled to remove their thyroid gland preventively, often in childhood, before they develop cancer. MEN2A is also associated with a high risk of developing pheochromocytomas (tumors on the adrenal glands) and tumors of the parathyroid glands. Recommendations for people with MEN2A include specialized screening for these tumors each year, consisting of blood work and ultrasound imaging.
At first, Cristi’s healthcare team thought her genetic results must be a mistake. This genetic finding was not consistent with her personal or family history. So, Cristi repeated the testing and confirmed that she definitely carried a RET variant. Another family member subsequently tested positive for the same variant.
Cristi’s healthcare team told her that she had up to a 95% chance to develop cancer. But because Cristi is a genetic counselor and has worked for several commercial laboratories, she dug deeper. Given her family history, which was not consistent with a traditional RET mutation, the results did not make sense to her. Cristi found a published paper in a medical journal showing that her specific RET variant is likely associated with a much lower risk of these cancers. Through her professional network, she obtained data from multiple laboratories on families with the same RET variant that appeared consistent with this journal article, and she scheduled an appointment with the article’s author. She even had a local genetic counselor and patient advocate attend her appointments virtually with the author to ensure that her local healthcare team would have the same information. Cristi was advised by the paper’s author that, in her case, screening for thyroid cancer would be a reasonable approach. Cristi decided to opt for regular blood screening and ultrasounds instead of surgical removal of her thyroid gland, which is the protocol for traditional RET variants. Cristi realized she was unique because most people with her initial testing result would not have access to these extraordinary resources and would have likely proceeded with removal of their thyroid gland, the approach her healthcare team and peers were recommending adamantly.
On its face, Cristi’s story seemed to be a success, although one driven by education, experience, and network. At first, she was understandably relieved. The treatment plan was non-invasive, reasonable, and data driven. Soon, however, Cristi learned that the plan was also financially toxic. We have published two previous papers discussing financial toxicity, including one in the setting of a breast cancer diagnosis.
Cristi had to wait 3 months for an appointment to see a specialist to have her screenings. Overall, the medical costs associated with establishing a screening plan that year and the associated health insurance deductibles cost her over $ 3,000. The average out-of-pocket costs in subsequent years for her RET specific screening are estimated to be at least $ 1,700 / year, for the rest of her life – and that assumes additional testing is not necessary. If we include the costs she must pay for her at-risk breast cancer screenings, based on her family history, the total out-of-pocket comes to $ 3,200 a year. It is not surprising that many patients skip healthcare visits they need due to uncertainty around costs.
Ironically, the removal of Cristi’s thyroid gland – which was not necessarily warranted based on her genetic variant, would be covered by her health insurance, as would the lifetime medications needed post-removal, and time off for recovery. The facts beg the question: are patients being pushed to have organ and tissue removal, instead of surveillance, due to the costs of lifetime surveillance? We must answer this critical question before we can move forward with population genetic testing and precision medicine.
Now consider that Cristi’s children and other relatives are offered genetic testing based on her finding and, if positive, must also have undergo similar surveillance every year. If Cristi and / or her family members receive an abnormal, or even borderline testing result, they require more testing and imaging. These procedures may or may not be covered by their insurance given the lack of guidelines for mutations that do not confer the traditional risk.
Another issue to consider is that Cristi must use paid time off (PTO) for her, and her family members’, medical appointments. If we consider 10 days to be the average number of PTO for private sector employees who complete one year of service, this means that between her ‘RET’ visits, routine visits, dental and vision, Cristi will use 9.5 PTO days per year for preventative care. If we consider the average person’s PTO, that equals 9.5 out of 10 days off / year on medical appointments alone. This figure does not include routine appointments needed for her children, such as when they are sick, and of course it does not account for vacation time. This reality is the unfair price one person pays for doing what she can, and should, do to keep herself and her family healthy and cancer free.
Population testing may help people avoid serious diseases and death, which is a worthy goal for patients, employers, payers and our population at large. But if we support this testing, we must also support individuals who test positive for a pathogenic mutation by providing:
Accurate genetic counseling information from a specialist, tailored to that individual test result;
Updated information as we learn more about each genetic variant and recommended management;
· Full coverage of both surveillance and prophylactic surgeries appropriate to that genetic finding;
Employer flexibility to support the PTO associated with the medical management pathways;
Clinics that support both high risk appointments and routine screening simultaneously, so that patients avoid multiple appointments at different sites spanning numerous days.
Population genetic testing is coming and will save lives and money, for our health care system and employers. But Cristi’s story is a cautionary tale: before we establish population testing programs, it is essential that we carve pathways for participants, to ensure that they are both covered and supported by their insurers, clinicians, and employers throughout this lifetime journey.
***Co-author Cristi Radford, MS, CGC is a genetic counselor who shifted her career to the payer space to develop programs addressing the unique needs of patients with genetic conditions. She is one of few professionals nationwide with expertise in genetic counseling and testing, the payer space, and financial toxicity.