Save lives and money and avoid financial toxicity

Genetic testing used to only be offered to people with rare genetic conditions or strong family histories of disease that spanned generations. But now healthy people are being offered genetic testing to determine if they carry a genetic change (often called a “variant” or “mutation”) that could put them at high risk of developing preventable diseases, including some cancers and heart conditions.

Theoretically, a population genetic study makes sense. Rather than waiting for a person to die of a heart attack at a young age, we can anticipate some of these risks and mitigate them. This approach not only works for the tested person and their family members – who may also be at risk – but also for our medical system, employers and overall healthcare costs that we as a society want to minimize.

But in practice, are we there yet? Cristi’s story shows that we still have a long way to go to make population genetic testing a benefit for the patient and their family members. Cristi is a Certified Genetic Counselor who, like many of us, knew several members of her family had 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 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 review the customer experience of a population-based screening program her company offers, she was surprised to learn that she carried a pathogenic variant in a gene called RET.

People who are carriers of a RET variant have a syndrome called multiple endocrine neoplasia 2A (MEN2A) and are believed to have an almost 100 percent chance of developing an aggressive type of thyroid cancer known as medullary thyroid cancer referred to as. For this reason, people with MEN2A are traditionally advised to have their thyroid removed preemptively, often in childhood, before they develop 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 special screening for these tumors each year, consisting of blood tests and ultrasound imaging.

At first, Cristi’s health 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 test and confirmed that she was definitely wearing a variant of RET. Another family member then tested positive for the same variant.

Cristi’s health team told her that she had a chance of developing cancer of up to 95%. But because Cristi is a genetic consultant and has worked for several commercial labs, she dug deeper. Given her family history, which was Not Consistent with a traditional RET mutation, the results didn’t make sense to her. Cristi found an article published in a medical journal showing this she 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 were consistent with this journal article, and she made an appointment with the author of the article. She even had a local genetic counselor and patient advocate who virtually attended her appointments with the author to ensure her local health team had the same information. Cristi was advised by the paper’s author that in her case, screening for thyroid cancer would be a sensible approach. Cristi opted for regular blood work and ultrasounds instead of having her thyroid surgically removed, which is the protocol for traditional RET variants. Cristi realized she was unique because most people with their first test result would not have access to these extraordinary resources and likely would have proceeded with their thyroid removal, the approach her healthcare team and colleagues strongly recommended.

At first glance, Cristi’s story appeared to be a success, despite being powered by education, experience and networks. At first she was understandably relieved. The treatment plan was non-invasive, reasonable and data-driven. However, Cristi soon learned that the plan was also financially toxic. We have published two previous articles dealing with financial toxicity, including one related to a breast cancer diagnosis.

Cristi had to wait 3 months for an appointment to see a specialist to have her tests done. In all, the medical costs associated with creating a screening plan that year and the associated health insurance deductibles cost them over $3,000. The average subsequent years’ own cost of their RET-specific screening is estimated to be at least $1,700/year for the rest of their lives—and that’s assuming no additional testing is required. If we include the cost of her risk screening for breast cancer based on her family history, the total spend is $3,200 per year. It is not surprising that many patients skip necessary visits to the doctor due to uncertainty about the costs.

Ironically, the removal of Cristi’s thyroid – which wasn’t necessarily justified given her genetic variant – would be covered by her health insurance, as would the lifelong medication needed after the removal and the time off to recover. The facts beg the question: Are patients being pressured into organ and tissue removal instead of monitoring because of the cost of lifelong 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 their findings, and if they are positive they must undergo similar surveillance every year. If Cristi and/or her family members get an abnormal or even borderline test result, they will need further testing and imaging. These procedures may or may not be covered by your insurance, as there are no guidelines for mutations that do not carry the traditional risk.

Another issue to consider is that Cristi has to take paid time off (PTO) for doctor appointments from her and her family members. If we consider 10 days as the average number of PTOs for private sector employees completing a year of service, that means Cristi spends 9.5 PTO days per year between her “RET” visits, routine visits, dental visits, and eye exams for preventive purposes used care. If we factor in the average person’s PTO, this equates to 9.5 out of 10 days off/year for doctor appointments alone. This number does not include the routine appointments that their children need, for example when they are ill, and of course vacation time. This reality is the unfair price a person pays for doing what they can and should do to keep themselves and their families 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 these tests, We also need to support people who have tested positive for a pathogenic mutation through:

· Accurate genetic counseling information from a specialist, tailored to the individual test result;

· updated information as we learn more about each genetic variant and the recommended treatment;

full coverage of both surveillance and prophylactic surgeries appropriate to this genetic condition;

Employer flexibility to support the PTO associated with the medical management pathways;

· Clinics that support both high-risk appointments and Routine exams concurrently, so patients avoid multiple appointments at different locations over multiple days.

Population genetic testing is coming and will save lives and money for our health care system and our employers. But Cristi’s story is a cautionary tale: before We’re setting up population testing programs, that’s it significant that we are paving ways for participants to ensure they are both covered and supported by their insurers, doctors and employers throughout this lifelong journey.

***Co-author Cristi Radford, MS, CGC is a genetic counselor who has transitioned 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 country with expertise in genetic counseling and testing, payer space and financial toxicity.

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