Genetic testing was once only offered to people with rare genetic disorders or a strong family history of diseases spanning generations. But genetic testing is now being offered to healthy people to detect if they have a genetic change (often referred to as a “variant” or “mutation”) that puts them at high risk for developing preventable conditions, including some cancers and cancers. heart and vascular disease. condition.
In theory, population genetic testing makes sense. Instead of waiting for someone to die of a heart attack at a young age, we can learn about some of those risks ahead of time and reduce them. This approach works not only for the person being tested and their family members – who may also be at risk – but also for our medical system, employers and overarching health care costs that we want to minimize as a society.
But are we there in practice yet? Cristi’s story illustrates that we still have a long way to go to make population genetic testing a success for patients and their families. Cristi is a licensed genetic counselor who, like many of us, knew that several members of her family had developed cancer. But the cancers in Cristi’s family didn’t fit into a known hereditary cancer syndrome. Cristi’s mother had genetic testing based on her personal history of 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 verify the customer experience of a population study offered by her company, she was surprised to learn that she carried a pathogenic variant in a gene called RET.
People who are carriers of an RET variant have a syndrome called Multiple Endocrine Neoplasia 2A (MEN2A) and are considered to have a nearly 100% chance of developing an aggressive form of thyroid cancer called medullary thyroid cancer. For this reason, people with MEN2A have traditionally been advised to have their thyroid removed preventively, often in childhood, before developing cancer. MEN2A is also associated with a high risk of developing pheochromocytomas (tumors of the adrenal glands) and tumors of the parathyroid glands. Recommendations for people with MEN2A include specialized annual screening for these tumors, consisting of blood tests and ultrasound.
At first, Cristi’s healthcare team thought her genetic results must be a mistake. This genetic finding was inconsistent with her personal or family history. So Cristi repeated the test and confirmed that she was definitely wearing an RET variant. Another family member then tested positive for the same variant.
Cristi’s healthcare team told her she had a 95% chance of developing cancer. But since Cristi is a genetic counselor and has worked for several commercial labs, she started to dig deeper. Given her family history, which was… not consistent with a traditional RET mutation, the results didn’t make sense to her. Cristi found a published article in a medical journal showing that hair specific RET variant is likely associated with a much lower risk of these cancers. Through her professional network, she obtained data from multiple labs on families with the same RET variant that seemed consistent with this journal article, and made an appointment with the author of the article. She even had a local geneticist and patient advocate virtually attend her appointments with the author to make sure her local health care team would have the same information. Cristi was advised by the author of the article that thyroid cancer screening would be a reasonable approach in her case. Cristi decided to opt for regular blood screening and ultrasounds rather than surgical removal of her thyroid, which is the protocol for traditional RET variants. Cristi realized she was unique in that with her first test result, most people would not have access to these extraordinary resources and would likely have gone ahead with having their thyroid removed, the approach her healthcare team and colleagues adamantly recommended.
At first glance, Cristi’s story seemed like a success, although driven by education, experience and network. At first, she was understandably relieved. The treatment plan was non-invasive, reasonable and data-driven. However, Cristi soon discovered that the plan was also financially toxic. We have published two previous articles that discuss: 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 for her screenings. Overall, the medical expenses associated with creating a screening plan that year and the associated health insurance deductibles cost her more than $3,000. The average out-of-pocket cost in subsequent years for her RET-specific screening is estimated to be at least $1,700 per year, for the rest of her life — and that assumes no additional testing is needed. If we factor in the costs she has to pay for her breast cancer risk screenings, based on her family history, the total net worth comes to $3,200 per year. It is not surprising that many patients skip healthcare visits they need because of the uncertainty about costs.
Ironically, the removal of Cristi’s thyroid — which wasn’t necessarily justified based on her genetic variant — would be covered by her health insurance, as would the lifelong medications needed after removal and time off for recovery. The facts beg the question: are patients forced to undergo organ and tissue removal instead of surveillance because of the cost of lifelong surveillance? We need to answer this critical question before we can move forward with population genetics testing and precision medicine.
Now consider that Cristi’s children and other family members will be offered genetic testing based on her finding and, if positive, also have to undergo similar monitoring every year. If Cristi and/or her family members get an abnormal or even borderline test result, they will need 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 carry the traditional risk.
Another point to consider is that Cristi should use paid time off (PTO) for her and her relatives’ medical appointments. If we consider 10 days as the average number of PTO for private sector workers who have been employed for a year, this means that between her ‘RET’ visits, routine visits, dentist and vision, Cristi will use 9.5 PTO days per year for preventive care. If we look at the average person’s PTO, that equates to 9.5 out of 10 days off per year for medical appointments alone. This figure doesn’t include routine appointments necessary for her kids, such as when they’re sick, and of course, it doesn’t take vacation time into account. This reality is the unfair price someone pays for doing what she can and should do to keep herself and her family healthy and cancer-free.
Population testing can help people avoid serious illness and death, which is a worthy goal for patients, employers, payers and our population at large. But if we support this test, we also need to support individuals who test positive for a pathogenic mutation by offering:
· 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;
· flexibility of the employer to support the PTO in connection with the medical management trajectories;
clinics that support both high-risk appointments and routine screening at the same time, so patients avoid multiple day-long appointments at different locations in different locations.
Genetic testing for the population 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 set up population testing programs, it is: essential that we map out pathways for participants to ensure they are both covered and supported by their insurers, clinicians and employers throughout this lifelong journey.
***Co-author Cristi Radford, MS, CGC is a genetic counselor who has shifted her career into the payer space to develop programs that address the unique needs of patients with genetic disorders. She is one of the few professionals in the entire country with expertise in genetic counseling and testing, the payer space, and financial toxicity.