The rise in genetic testing in the last 20 years paired with a decrease in the amount of time and cost it takes to run a test has played a vital role in decreasing the diagnostic odyssey for many rare disease patients. In addition, we have seen a rise in use of genetic testing, with a 230 percent increase in genetic tests paid for by Medicare between 2016 and 2019. However, genetic and genomic sequencing tests are still out of reach for thousands of rare disease families. Barriers, such as obtaining health insurance and lack of access to expert clinicians, extend the diagnostic odyssey for individuals with suspected rare diseases.
Policy Efforts
Addressing the diagnostic odyssey will require tackling a variety of policy issues. The RARE Foundation has been working to shorten the diagnostic odyssey through two key genetic testing issues:
Access to Genetic Counselors
Genetic counseling is an incredibly important tool for patients and their families throughout a rare disease diagnosis. Genetic counseling uses personal health and family history to determine the likelihood that a genetic condition is present and if it will be passed on to children. Genetic counselors are extremely crucial to the diagnostic odyssey that rare disease patients face. The guidance they provide is essential to reducing the time between symptom onset and diagnosis.
The RARE Foundation supports the Access to Genetic Counselor Services Act (H.R. 6280/S. 3607). Here is the one-pager that describes the legislation and an action alert to voice your support for the bill to Congress.
Access to Genetic Testing
Navigating a rare disease diagnosis can require more than 6 years and 17 medical interventions, on average, after symptoms begin. These interventions can include hospitalizations, emergency room visits, out-of-state specialist appointments, and other health-related activities. With 70-80 percent of rare diseases being genetic in origin, timely and sustainable access to genetic diagnostic testing that rapidly informs appropriate patient care and treatment is fundamental to rare disease patients’ health and well-being.
The RARE Foundation supports The Genomic Answers for Children’s Health Act (H.R. 7118). The legislation makes clear that whole-genome sequencing and whole-exome sequencing are covered Medicaid services, promotes awareness among stakeholders, and directs reports to Congress on barriers to care. Learn more with our one-pager.
Take Action
Support the Genomic Answers for Children’s Health Act
The RARE Foundation supports the Genomic Answers for Children’s Health Act (H.R. 7118), which will help shorten the diagnostic odyssey for children with Medicaid.
