Every year on the last day of February, the world comes together to observe Rare Disease Day. It is a day dedicated to raising awareness and generating support for patients, families and caregivers who are on a rare medical journey.
It is important to remember that behind every rare disease statistic lies a story of hope – patients awaiting answers, families searching for connections and researchers dedicated to medical discovery and advancement. This collective team of patients, families, clinicians, researchers and advocates propel medical advancements forward and exemplify the true essence of community support.
What is a Rare Disease?
Odds are, your life is impacted in some way by rare disease. Rare disease is defined as a condition that affects less than one in 200,000 people. Although, individually, each disease is characterized as “rare,” collectively, rare diseases affect 2-6 percent of the population (>150 million people). There are over 10,000 rare diseases, and up to 80 percent of rare diseases are thought to have a genetic component.
These statistics highlight the common nature of rare disease while illustrating the unmet needs and challenges patients and families with rare disease face, as research and treatment initiatives are spread thin across so many different conditions. Patients navigate journeys filled with uncertainties and challenges, including delayed diagnoses or misdiagnoses, lack of access to medical specialists, limited treatment and clinical research opportunities, and general lack of awareness from the healthcare community. Despite these challenges, rare disease patients and their families demonstrate remarkable courage, resilience and determination in their daily lives.
Celebrating Rare Disease Day
One of the most inspiring aspects of Rare Disease Day is the opportunity to hear and share stories of hope and perseverance. Rare disease patients and families are not only facing unique medical challenges head-on, but they are also advocating for themselves and others in the community. Their voices are powerful agents of change, driving research, raising awareness and pushing for improved access to treatments and support services. Recent evidence of this includes increasing support for patient involvement in clinical trial design, and patient-led development and advocacy work which has expanded genetic testing and therapy access.
There are hundreds of events scheduled worldwide to celebrate this year’s Rare Disease Day, from webinars, podcasts, fundraisers, social media campaigns, and sharing of personal stories of how rare disease has impacted you or a person you care about. Advocacy organizations like the National Organization for Rare Disorders (NORD), Global Genes, and Genetic Alliance, which are based in the United States, serve as invaluable resources for patient communities through sharing of information, resources, and patient connection programs.
Advancements in genetic testing is increasing accurate diagnoses and improving treatment
Access to an accurate and timely diagnosis is one of the first hurdles that many patients with a rare disease face on their journey; however, advancements in and access to genomic testing technology over the last few years is transforming the ability of patients to receive an accurate diagnosis. The acceleration of rare disease gene discovery, dramatic reductions in the cost of genomic sequencing, and favorable reimbursement policies have significantly improved both diagnostic rates and the timeliness of genetic diagnosis.
Understanding rare disease mechanisms allows physicians to refer patients to appropriate specialists, customize therapeutic approaches, and provide disease-specific follow-up care and support. A genetic diagnosis also expands opportunities for clinical trial participation, enabling patients to access novel treatments and contribute to advancements in medical research. In a recent article, Erica Ramos, MS, CGC, explores the significance of ensuring access to genetic testing to promote equity in the design, study participation, and benefit of clinical trials. Most importantly, a diagnosis offers answers, actionable steps, and hope to patients and families who have often spent years searching for a path forward. For rare disease patients starting on their diagnosis and treatment journey, or those who have been searching for years, the likelihood that genetic testing will uncover answers is higher than ever before.
Telehealth genetic counseling expands access to clinical genetic services
Unfortunately, for many rare disease patients and their families, accessing genetic services is not always easy. Barriers to access can include long wait times for appointments, limited or no availability in rural or underserved geographic areas, and transportation challenges and accompanying patient costs for traveling to appointments. Most of these challenges are attributed to the limited number and unbalanced distribution of medical geneticists and genetic counselors.
The ability to provide genetic services through a virtual, telehealth platform expands the pool of genetics providers, eliminating the need to travel to appointments and allowing families to access services from the comfort of their own homes. This results in shorter patient wait times and reduced patient costs, supporting equitable access to services. For individuals within the rare disease community who are medically fragile or immunocompromised, telehealth offers a safe and secure alternative to in-person visits, minimizing the risk of exposure to office and facility-based infections.
Although telehealth adoption seemed to surge rapidly in response to the COVID-19 pandemic, a substantial body of literature going back more than a decade affirms the effectiveness of this service delivery approach. In addition to removing critical access barriers, studies suggest that the quality of telehealth genetic counseling is comparable to that of in-person genetic counseling, with some even demonstrating higher levels of patient satisfaction with telehealth services. Diagnostic efficacy has also been confirmed compared to traditional in-person evaluations, suggesting that chances of receiving a genetic diagnosis are the same whether a person is seen in-person or via telehealth.
As telehealth continues to gain momentum, it is clear that patients with rare diseases not only value but also prefer ongoing access to telehealth services. Moving forward, it is imperative to recognize the significance of expanding telehealth access to ensure that patients receive timely and comprehensive care, ultimately enhancing their diagnosis, management and treatment outcomes.
Genome Medical’s experience with rare disease patients
Genome Medical is proud to support the growing number of rare disease patients and families who access clinical genetic services through our telehealth services. More than one-third of the patients we see come to Genome Medical with a rare disease indication. Our clinical team, composed of medical geneticists and genetic counselors, has significant expertise in diagnosing and treating a wide array of rare diseases.
We believe that all patients, regardless of where they live, have a right to access diagnostic evaluations, clinical genetic testing and genetic counseling services. If you think that you or your child may have a rare disease, you can schedule an appointment with a Genome Medical genetics provider through our nationwide network of genetic experts.
Join us in honoring Rare Disease Day and standing in solidarity with the millions of individuals and families affected by rare diseases worldwide. Together, we will work towards a future where every individual, regardless of their diagnosis, has access to the care, support and opportunities they deserve.
- Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–173. https://doi.org/10.1038/s41431-019-0508-0
- Ferreira CR. The burden of rare diseases. Am J Med Genet A. 2019;179(6):885-892. doi:10.1002/ajmg.a.61124
- Walker CE, Mahede T, Davis G, et al. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017;19(5):546-552. doi:10.1038/gim.2016.143
- Bick D, Jones M, Taylor SL, Taft RJ, Belmont J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019;56(12):783-791. doi:10.1136/jmedgenet-2019-106111.
- Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. 2019.
- Rare Disease Impact Report: Insights from patients and the medical community. globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
- Otten, E., Birnie, E., Ranchor, A. V., & van Langen, I. M. (2016). Telegenetics use in presymptomatic genetic counseling: Patient evaluations on satisfaction and quality of care. European Journal of Human Genetics: EJHG, 24(4), 513–520. https://doi.org/10.1038/ejhg.2015.1
