Genetic testing was once only available to people with rare genetic disorders or strong family histories that spanned generations. But genetic testing is now being offered to healthy people to detect whether they carry genetic changes (often called “variants” or “mutations”) that could put them at high risk for developing preventable diseases, including some cancers and heart disease disease conditions.
In theory, population genetic testing makes sense. Rather than waiting for a person to die of a heart attack at a young age, we can learn about some of these risks ahead of time and mitigate them. This approach applies not only to those being tested and their family members — who may also be at risk — but also to our healthcare system, employers, and the overall health care costs we want to minimize as a society.
But in practice, are we still there? Cristi’s story shows that we still have a long way to go before population genetic testing is a win for patients and their families. Christy is a certified genetic counselor and, like many of us, knew that several members of her family had cancer. But the Christie family’s cancer did not fit into a known hereditary cancer syndrome. Christie’s mother had genetic testing based on her personal history of brain tumors and melanoma, as well as a family history of breast and prostate cancer, and found no mutations in her DNA.So when Cristi signed up for genetic testing to examine the customer experience of the population-based screening program her company offered, she was surprised to find that she was carrying a test called RET.
People with RET variants have a Multiple Endocrine Tumor 2A (MEN2A) and are thought to have an almost 100% chance of developing an aggressive form of thyroid cancer called medullary thyroid carcinomaFor this reason, people with MEN2A have traditionally been advised to have their thyroid removed prophylactically, usually in childhood, before they develop cancer. MEN2A is also associated with a higher risk of developing pheochromocytoma (adrenal gland tumors) and parathyroid tumors. Recommendations for patients with MEN2A include annual dedicated screening for these tumors, including blood tests and ultrasound imaging.
At first, Christie’s medical team thought her genetic results must be wrong. This genetic finding was inconsistent with her personal or family history. So Christie repeated the test and confirmed that she definitely carries the RET variant. Another family member subsequently tested positive for the same variant.
Christie’s medical team told her she had a 95 percent chance of developing cancer. But since Cristi is a genetic counselor and has worked in several commercial labs, she digs even deeper.Given her family history no Consistent with traditional RET mutations, the results did not make sense to her.Christie found a published paper in a medical journal showing that she specific RET variants May be related to a much lower risk of these cancers. Through her professional network, she obtained data from multiple laboratories for families with the same RET variant consistent with this journal article, and she arranged an appointment with the article’s author. She even brought local genetic counselors and patient advocates on a virtual appointment with the author to ensure her local medical team had the same information. The paper’s authors advise Christie that, in her case, screening for thyroid cancer would be a reasonable approach. Instead of surgically removing her thyroid, Cristi decided to opt for regular blood screenings and ultrasounds, the option for the traditional RET variant. Christie realized she was unique because most people who got her initial test results did not have access to these extraordinary resources and would likely go on to have their thyroid removed, an approach strongly recommended by her medical team and peers.
On the surface, Christie’s story appears to be a success, despite being driven by education, experience, and networking. At first, she was understandably relieved. Treatment planning is non-invasive, rational, and data-driven. Soon, however, Christie learned that the plan was also financially harmful. We previously published two papers discussing financial toxicity, one of which was on breast cancer diagnosis.
Christie had to wait three months for her appointment to see a specialist for screening. Overall, the medical expenses associated with developing the screening program and the associated health insurance deductible cost her more than $3,000 that year. Over the next few years, her average out-of-pocket costs for RET-specific screening were estimated to be at least $1,700 per year for the rest of her life — and assuming no additional testing was needed. If we included what she had to pay for high-risk breast cancer screening based on her family history, the total out-of-pocket cost was $3,200 per year.Many people are not surprised Patients skip healthcare visits They need to because of cost uncertainty.
Ironically, the removal of Cristi’s thyroid gland (not necessarily necessary based on her genetic variant) will be covered by her health insurance, as will the life-long medication and recovery time needed after the removal. The fact begs a question: Are patients forced to undergo organ and tissue removal instead of monitoring due to the cost of lifetime monitoring? We must answer this critical question before we can advance population genetic testing and precision medicine.
Consider now offering genetic testing to Christie’s children and other relatives based on her findings, and if they test positive, they must undergo similar monitoring each year. If Cristi and/or her family receive abnormal or even borderline test results, they 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 pose traditional risks.
Another consideration is that Christie must use paid time off (PTO) for her and her family’s medical appointments.If we consider 10 days to be Average number of power take-offs For private sector employees who complete one year of service, this means that between her “RET” visits, routine visits, dental and vision exams, Cristi will use 9.5 days of PTO per year for preventive care. If we consider the average person’s PTO, this equates to 9.5 out of 10 days off per year, just on medical appointments. That figure doesn’t include routine appointments her kids need, like when they’re sick, and certainly doesn’t take into account vacation time. This reality is the unfair price a person 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, a worthy goal for patients, employers, payers and our wider population. But if we support this test, We must also support individuals who test positive for a pathogenic variant By providing:
· Accurate genetic counseling information from experts, tailored to individual test results;
update the information as we learn more about each genetic variant and recommended management;
· Comprehensive coverage of surveillance and preventive surgery appropriate for this gene discovery;
· Employer flexibility to support PTOs related to the healthcare management pathway;
· Clinics that support high-risk appointments and Routine screening is done at the same time, so patients can avoid multiple appointments in different locations that span several days.
Population genetic testing is coming and will save lives and money for our healthcare system and employers. But Christy’s story is a cautionary tale: forward We build population testing programs, it’s basic We open the way for participants to ensure they are covered and supported by insurers, clinicians and employers throughout their lives.
***Co-author Cristi Radford, MS, CGC A genetic counselor, she has moved her career into payments to develop programs that meet the unique needs of people with genetic diseases. She is one of the few professionals in the nation with expertise in genetic counseling and testing, payer space and financial toxicity.