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Guardian Research Network (GRN) and ThinkGenetic have announced a strategic collaboration to accelerate the diagnosis and support the development of treatment options for patients with rare and genetic diseases. The collaboration leverages GNR’s healthcare data science and clinical expertise with ThinkGenetic’s experience in the development of electronic health record (EHR) algorithms for accurate diagnosis and give healthcare providers support.

“Working with ThinkGenetic is a great step forward for GRN’s mission of bringing the best care to historically-underserved patients while accelerating cures for disease, including rare diseases in cancer and non-cancer,” said Mark Watson, chief operating officer for GRN.

The National Institutes of Health (NIH) says there are approximately 7,000 rare diseases affecting between 25 and 30 million American patients today and more than 80% of rare diseases have a known monogenic (single-gene) cause. Investment in rare diseases has gone up considerably in recent years.

According to the announcement, the GRN and ThinkGenetic collaboration will take on three challenges facing patients with rare genetic conditions:

  • Accelerating identification and diagnosis of individuals at an increased risk to be affected by an underlying genetic condition
  • Providing targeted education and decision support tools to healthcare providers who have patients at an increased risk of an underlying rare genetic condition
  • Affording access to patients for clinical trials and Real World Data (RWD) research cohorts in collaboration with life science companies

The partnership combines ThinkGenetic’s “clinical understanding of rare genetic disease diagnosis and novel EHR-based algorithms” with GRN’s “national-scale RWD analytics platform that works in concert with its clinical trial operations.” This single-source research platform, the groups say, provides previously unavailable large, highly annotated cohorts of rare genetic disease subjects.

“By partnering with GRN, we are both able to advance our missions of reducing the time to diagnose conditions and improve the lives of patients,” said Dave Jacob, ThinkGenetic’s chief executive officer. “ThinkGenetic has the technology and the certified genetic counselors to flag and review millions of EHRs for risk of genetic disease and with the help of GRN, we can educate the healthcare provider on possible next steps and genetic testing/clinical trial options.”

With many rare genetic diseases, clinical findings often seem unrelated, leaving patients and physicians uncertain about co-occurring signs and symptoms. Many patients and their doctors only look to genetic diseases after potentially exhausting all other possibilities.

There is positive industry reaction to the alliance. “As a company committed to helping patients with rare genetic disorders, PTC Therapeutics is excited to partner with ThinkGenetic and GRN. Reaching the right diagnosis can be a long and difficult process for patients with rare diseases. We’re hopeful this partnership will help shorten that journey for patients, their families, and healthcare providers,” commented Bruce Braughton, senior vice president and general manager, North America, PTC Therapeutics.

GRN is a nationwide health system research consortium focused on advancing technology to accelerate cures for life-threatening and chronic diseases.  The organization works with life sciences clients and health system partners to increase participation in data-driven clinical trials, optimize therapeutic and diagnostic studies, and employ real-world data to improve patient access to precision medicines in under-served communities.

ThinkGenetic is aiming to digitally revolutionize undiagnosed patient identification with the goal of shortening the diagnostic journey for those with an underlying genetic condition.

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