The Untapped Potential of Genetics in Healthcare
The field of genetics has always been concentrated in academia and utilized for research. Even in clinical practice, genetics has largely remained within academic health centers. For years, genetic testing was simply too expensive to be standard for most patients.
Today, new technology has removed economic barriers, unlocking the potential for genetics to have a much larger reach and impact on patients. In the early 2000s, the cost per each human genome sequenced was well into the millions. By late 2010, it was near $10,000. Today, sequencing the human genome can cost as little as $200. For comparison, without insurance, average X-ray costs in the US range between $260 and $460. At the same time as genetic testing costs have dropped, new therapies and pharmaceuticals have drastically improved the outlook for numerous genetic disorders. Combined, these two factors have made genetic testing a powerful and affordable tool to save lives and improve the quality of care for patients.
An Underserved Population: Adults with Genetic Disorders
While research suggests that 5-10% of people have a genetic disorder, over 99% of people aged 25 and up have never been offered genetic testing. This means a significant number of adults are living with undiagnosed genetic diseases.
While genetic testing today is part of diagnostic work-ups for many childhood conditions, most adults did not have access to this testing as children. In fact, almost all genetic conditions that are non-fatal in childhood are vastly underdiagnosed in adults. Most adults with chronic neurological problems, differences in anatomy, or remarkable clinical presentations have never had genetic testing. Yet, in children with these non-fatal conditions, up to 30% are diagnosed with an underlying genetic condition.
A rare genetic disease can lead to a time-consuming, expensive, and frustrating diagnostic quest. (It takes an average of eight years for a rare disease patient to receive a diagnosis if they get one at all). All the while, patients are dealing with unmanaged, potentially worsening symptoms. The undiagnosed disease also drains the medical system, with providers overseeing unnecessary testing and repeat inconclusive visits. For many, genetics could provide answers and a path forward.
Barriers to Increased Genetic Testing and Care
With its potential to help so many people, the uptake of genetics should be more robust. We need to bring genetics to patients in all types of communities and healthcare facilities. We need more providers to leverage genetics in their practice. We need care to catch up to technology because there’s no reason why genetics can’t be utilized more to improve patient outcomes. So, what’s standing in the way?
1. Lack of familiarity among providers
Not long ago, with the exorbitant cost of genetic testing, there was no practical means for most providers to incorporate genetics into their care. As a result, most practicing physicians have little to no education or experience in the field. They don’t recognize the symptoms that would support a genetics referral and seldom consider genetic disorders in their diagnostic evaluations of adults. Misconceptions also exist around the complexity of genetic testing and the value of a genetic diagnosis for adults.
2. Lack of insurance coverage
Insurance coverage for genetic testing (especially for whole genome sequencing) is much less consistent for adults than children. In recent years, we have been excited to see an increase in insurance offering at least partial coverage for adult genetic testing. Still, improvement is needed. With both United Healthcare and Cigna now covering whole genome sequencing, we hope that more insurance companies will follow their lead.
3. Lack of geneticists working in adult care
Even if a provider suspects a genetic disorder, the scarcity of adult clinical geneticists makes referring patients a challenge. Most geneticists work at academic health centers in research or pediatrics — with less than 10% focused on adult care. In some areas, geneticists have waitlists that are over a year long. To properly care for the rare and genetic disease patient population, we need more clinical geneticists specializing in adult care.
How You Can Help Drive Change
SequenceMD is a private medical practice specializing in identifying, diagnosing, and managing rare or inherited genetic conditions in adults. While we are licensed to see patients in Colorado, Wyoming, Arizona and Michigan, we strongly believe in expanding access to genetic care across the entire United States.
If you work in healthcare, you can be part of a solution. For starters, educate yourself and colleagues about the benefits of genetic testing for patients and the healthcare system. In your work, be on the lookout for red flags for genetic disorders in your patients. You can also get in touch with our team to discuss joining our network of specialists focused on providing integrated care to patients with rare and genetic diseases.
Outside of healthcare, everyone has opportunities to contribute. If you’d like to advocate for the rare disease community, reach out to healthcare system leaders and insurance providers about the need for and importance of genetic testing and care. (Feel free to share this article or others from our blog.) Making genetics a larger part of our healthcare system will take time, and education and advocacy will be vital to helping more people receive life-changing genetic care.
Building an Integrated Care Team for Our Patients
At SequenceMD, we understand the attention and care needed for treating individuals with rare and inherited genetic disorders. When geneticists and providers from across specialties collaborate, patients can experience a better quality of life and care. Patients will also be more likely to discover and utilize beneficial services that meet their needs. That’s why we’re working to create an integrated care team with professionals from across many specialties committed to helping individuals with rare diseases. By doing so, we’re confident we can help our patients to receive the best care possible.
To learn about the genetic testing and care we provide for our patients — or if you’re a provider interested in working together — get in touch today at info@sequencemd.com or 303-832-7109.
