GeneDx, a provider of genomic and clinical insights for improved health outcomes, has joined forces with Prognos Health, the largest real-world integrated data marketplace, to expedite the treatment process for patients with rare diseases using real-world data.

The strategic partnership aims to offer life science companies a comprehensive, de-identified data set focused on rare diseases, facilitating the access to life-saving therapies. GeneDx’s de-identified rare disease data will be constantly updated with new genomic and health information from whole genome and whole exome sequencing tests, and integrated into the Prognos Marketplace.

Biopharma companies collaborating with Prognos will be automatically notified about clinicians who have recently diagnosed patients and may benefit from therapies that have been approved by the US Food and Drug Administration (FDA).

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The collaborative effort between GeneDx and Prognos Health holds the potential to make a profound difference for patients with lysosomal acid lipase deficiency (LAL-D). By leveraging their combined resources, this partnership can accelerate the diagnostic journey for patients with LAL-D, provide faster access to crucial treatments, and ultimately improve the health outcomes of those affected by this rare genetic disorder.

Read more about LAL-D therapies

“Patients with rare diseases oftentimes have to endure a diagnostic odyssey of approximately eight years, meaning that not months, but years are wasted without an accurate diagnosis and without knowledge of or access to an FDA-approved therapy,” said Kareem Saad, chief transformation officer at GeneDx.

“GeneDx is dedicated to ending the diagnostic odyssey for patients and their families, and this partnership gives us the opportunity to go a step further to connect clinicians and their patients with rare diseases to appropriate treatment options and ultimately improve health and health economic outcomes.”

GeneDx’s extensive genetic database is particularly enriched for rare diseases, comprising samples from over 1.3 million patients, including more than 450,000 exomes and genomes.

Prognos Health’s Marketplace houses the de-identified laboratory and health records of more than 325 million patients, along with claims data, pharmacy prescription data, and various other data types.

Sundeep Bhan, chief executive officer at Prognos Health, highlighted the significance of this partnership in transforming the treatment landscape for rare diseases. “Prognos Health’s mission has always been to unlock the power of data to improve health, and this partnership further enables us to provide actionable insights in rare disease that can help clinicians make more informed decisions and ensure patients receive the right treatment at the right time. With the rare disease genomics data and expertise available to us through partners like GeneDx, our life science clients can leverage the Prognos Marketplace to bring about a paradigm shift in the treatment of rare diseases.”


GeneDx and Prognos Health announce strategic partnership to help rare disease patients more rapidly gain access to potential treatment options. News release. GeneDx; July 19, 2023.