RARE Daily

Expanding Access to Genome Sequencing in Rural Populations

April 18, 2024

Rare Daily Staff

Patients in rural area often face challenges accessing cutting-edge medical technologies, such as state-of-the-art genome sequencing, but a new pilot study from the Children’s Mercy Research Institute in Kansas City, Missouri, offers a framework for how to improve access and care for patients far from metropolitan areas.

CMRI collaborated with Salina Pediatric Care, a rural clinic in Salina, Kansas, for a one-year pilot project. Salina is located 175 miles from Children’s Mercy Kansas City. The pilot study, which ran from July 2022 to June 2023, found more than double the historic rate for rare disease diagnosis among the rural population and also cut the time-to-diagnosis by about five months. The pilot project for rural expansion was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health.

The authors note that advances in technology have exponentially increased the ability to make molecular diagnoses, with current rates ranging from 25 percent to 35 percent. However, the benefits of these diagnoses only apply to rare disease patients who have access to testing.

“There is a shortage and maldistribution of clinical genetic services in the United States, with the limited clinical geneticists and genetic counselors available being concentrated in large urban academic medical centers, leaving rural communities severely underserved,” they wrote.

For people in rural communities, access to genomic testing can require getting on a waitlist, delays in clinical assessment, and multiple visits to urban medical centers. The CMRI collaboration allowed patients to bypass those barriers.

It shows that while next-generation sequencing has improved diagnostic yields for people with rare diseases, there are other challenges beyond technology that need to be addressed to improve the rate at which patients are diagnosed. In a study published in the American Journal of Human Genetics and led by Ana Cohen, assistant director of molecular genetics at CMRI, the authors argue that increasing equitable access to genomics is one way to increase the benefits of genome sequencing and that its efforts “represent just one step in fostering greater diversity and equity in genomic studies.”

In 2019, the CMRI established Genomic Answers for Kids (GA4K), a large-scale genomic rare disease program. GA4K is collecting genomic data and health information from 30,000 children and their families, ultimately creating a sharable database of nearly 100,000 genomes.

In line with its commitment to seek sustainable interventions to shorten the path to diagnosis for all patients with rare genetic disorders, CMRI designed a model to establish direct partnerships with rural communities, capitalizing on its own genetics expertise while empowering local health providers to deliver the benefits of comprehensive early testing to their patients. The approach provided tools to primary care providers to help them recognize patients who would benefit from genomic testing, bypassing the known barriers to access to genetic testing.

The authors said long-term implementation of a direct-to-provider approach should maximize access to genomic medicine in underserved populations, focus limited specialist genetic services on caring for patients with established diagnoses or needing increased support for their undiagnosed condition, and enable earlier interventions, whenever these are available, without the need to visit a large urban academic medical center to qualify.

The authors note that by providing local support to patients at their regular clinics, they were able to bypass bottlenecks and disparities of genetics referrals, but they said while the strategy may shorten time to diagnosis it may not facilitate access to care.

Photo: Ana Cohen, assistant director of molecular genetics for CMRI and lead author of the study

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