Too often, patients with rare and inherited genetic disorders have a history of difficult healthcare experiences and fragmented medical records. With more than 5,000 known genetic disorders, these disorders manifest in many ways, across multiple systems in the body, necessitating a variety of specialists for treatment and management. Having an integrated care team can significantly improve these patients’ experiences and outcomes. From initial diagnosis to care across the lifetime, patients with genetic disease deserve and need healthcare providers working together. Below we break down five reasons why it’s essential that geneticists and other providers work together to optimize care for the rare disease community.
5 Reasons Why Patients with Genetic Disease Need Multidisciplinary, Integrated Care Teams
1. Non-genetic testing is often useful in informing a genetic diagnosis.
When a genetic disease is discovered, additional non-genetic tests or procedures are often the next step to better understand the disease state. By getting this testing and consulting with specialists, the patient can better understand how their disease has progressed or manifested so far and get a better picture of the future ahead.
In other cases, a genetic test may reveal a genetic variant of uncertain significance. For those patients, additional testing can help give clarity to their test results. Take for example, the middle-aged male whose neurologist ordered genetic testing after he began experiencing new onset balance problems and vision loss. Our results found a variant in TREX1, a gene associated with progressive retinal disease. To confirm that this gene is causing the new onset symptoms, the patient will need at least two retinal exams by an ophthalmologist over the next year (with those exams likely needing to continue regularly). In this case and every other, having providers communicate effectively and efficiently in requesting, conducting and assessing these genetic and non-genetic tests is indispensable.
2. Most providers lack rare disease expertise.
By their very nature, rare diseases are not something medical professionals come across frequently. In fact, most primary care and specialty physicians have little-to-no experience with rare genetic disorders. This increases the burden on patients to advocate for themselves and educate providers about their needs. If communication is limited between providers, this work becomes even more tiresome and complicated. In such cases, key clinical details of these complex diseases and their progression may be accidentally overlooked.
Many of these issues can be solved by having an integrated care team that consists of the appropriate specialists working closely with a medical geneticist and primary care provider. When a patient’s care providers are responsive, thorough, and collaborative, this decreases the burden of advocacy on the patient. This also leads to treatment plans better tailored to each patient’s specific needs and disease characteristics.
3. Genetic disorders are often associated with disabilities.
Some rare genetic diseases are accompanied by a physical or intellectual disability, which can increase the need for complex, multi-specialty care. This may also limit a patient’s ability to self-advocate. By collaborating with a medical geneticist, providers can better understand a patient’s disability, including how to meet their existing needs and plan for future likelihoods and complications. This, in turn, allows each provider to deliver more personalized, consistent and targeted healthcare with appropriate choices for treatments, medication and disability management.
4. Patients with rare diseases may be at risk for multiple comorbidities.
In addition to physical and intellectual disabilities, genetic diseases can be associated with numerous other comorbidities. (Comorbidity is when more than one disease or condition is present in a person at the same time.) If patients with a genetic disease have a high risk for specific comorbidity, they will need to be tested, monitored and advised by a specialist. Integrated care and collaboration with a geneticist are key in this scenario for improved outcomes, including early disease prevention or intervention.
In other instances, by the time a patient is diagnosed with a rare disease, they have already developed comorbidities that require diagnosis and treatment from various specialists. To provide optimal care and management — and stop symptom progression — specialists may need to act fast and coordinate with the patient’s care providers to better understand the underlying genetic cause.
5. Managing rare diseases can be a complex undertaking.
Patients with rare and genetic diseases frequently require life-long, multi-specialty care. They may need numerous and recurring diagnostic workups, with the results impacting the care they receive from multiple providers. For example, take the case of a patient we recently diagnosed with two genetic disorders: a genetic form of hypothyroidism and a hereditary nerve disease. We are now helping him to establish care with an endocrinologist for hormone testing and replacement, and a neurologist for brain imaging and nerve conduction studies. He is also at risk for vision decline and hearing loss and has not had either evaluated in more than 10 years. At only 22, this patient will continue to need care and testing throughout his life.
When treating rare disease patients such as this individual, having an integrated care team can help each provider to deliver quality care, based on understanding the natural history, clinical features, and comorbidities of the underlying genetic disorder(s). Working together, a care team can offer more effective and targeted therapies, anticipate and avoid possible complications, and reduce the risk of adverse side effects and comorbidities over the lifespan.
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 that 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 firstname.lastname@example.org or 303-832-7109.