A Costly, Expensive and Frustrating Quest for a Diagnosis
An experience many of our patients share is one of repeat visits to hospitals, care providers, and specialty practices for tests and examinations. For people with rare diseases, an accurate diagnosis takes 5 to 8 years on average. Others wait decades. Despite all the time spent in doctors’ offices, these patients’ symptoms seem unrelated and unexplainable before they undergo genetic evaluation. And while rare diseases are individually rare, these 10,000+ rare diseases impact millions. Research suggests that 300 to 400 million people worldwide (30 million in the US alone) have a rare disease, and over 80% of rare diseases are thought to be genetic.
While these patients seek answers, they are at risk for progressive, irreversible and costly complications that are particularly dangerous since rare disease commonly affects multiple organs. With the need for diagnostic workups and treating both symptoms and complications, costs pile up fast. The NIH has found patients with rare diseases have medical costs three to five times higher than others their age. Without a diagnosis and targeted treatment, premature death can occur.
Genetic Evaluations Can Deliver Answers and Direction
Genetic evaluation can provide a diagnosis that ties together symptoms and lowers medical expenses and risk by eliminating unnecessary procedures and tests. Seeing a medical geneticist can reveal how to slow disease progression, reduce symptoms and minimize complications. With a genetic diagnosis, your care providers can work together to treat the underlying cause rather than the individual symptoms.
Together, this adds up to less stress, fewer costly hospital stays and unplanned medical expenses, and better overall quality of life. In fact, a 2022 NIH study found that doing clinical genetic testing for patients with rare and undiagnosed conditions resulted in healthcare cost savings of $18,000 to over $100,000.
Examples from Our Medical Genetics Clinic
At SequenceMD, we’ve conducted genetic evaluations of many rare disease patients and seen for ourselves the power of a genetic diagnosis. Here are a few life-changing results delivered for patients at our clinic.
Reducing Chronic Muscle Pain and Slowing Disease Progression
A patient in their 30s came to us after experiencing chronic muscle, joint, and nerve pain, spine and disc degeneration, and early-onset osteoarthritis. They had multiple MRIs, x-rays, and an ER visit in recent years, but the tests hadn’t revealed the cause of their conditions. The cost and stress were adding up, and a neurologist referred the patient to SequenceMD.
A genetic evaluation revealed a genetic myopathy (or muscle disease). This diagnosis explains the patient’s various symptoms and enables them to start treatment to slow the disease’s progression. They are taking supplements to improve balance and were recommended physical therapy to help reduce future falls. Their medical providers also now know to take precautions with anesthesia and certain medications. This new care plan has already helped slow joint degeneration, decrease pain, and reduce the risk of complications.
Eliminating GI Pain and Hospitalizations with Diet Changes
Another patient was referred to us by a primary care practitioner for cyclic vomiting and chronic GI pain, for which they’d had numerous ER and hospital visits. Genetic testing revealed a rare genetic mutation that was causing the patient’s diet and eating habits to trigger ketoacidosis. Now that the condition is identified, future episodes can be treated with a simple intervention. More importantly, patients can change their eating habits to decrease or entirely prevent symptoms. We also recommended that several family members be informed of and tested for the condition to help prevent them from experiencing potential health issues.
Increasing Patient Access to Resources and Support
A young adult with an intellectual and developmental disability was referred to SequenceMD. Upon genetic evaluation, we diagnosed the patient with a genetic neurodevelopment disorder and genetic hypothyroidism. This diagnosis allowed the patient to apply to receive social security and will allow them to receive increased resources and care. We also referred the patient to a physical therapist, endocrinologist, ophthalmologist, and neurologist for support and monitoring that will decrease the risk of complications.
Are you in the middle of a diagnostic journey?
If you or a family member is experiencing undiagnosed or unexplained symptoms, genetic testing and evaluation may be able to help. Visit the SequenceMD patients page to learn about the services we offer at SequenceMD, or contact us anytime to start a conversation.
