3billion

3billion’s 5-Week Turnaround Time for Genetic Insights

    Insights | 24. 10. 31

One of the biggest challenges physicians face when diagnosing rare diseases is the time it takes to receive Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES) results. Traditionally, healthcare providers have faced TATs spanning several weeks to months, delaying essential diagnostic decisions and impacting patient care Recognizing this pain point, we at 3billion have made significant strides to reduce our TAT to just 5 weeks, offering physicians the speed and accuracy they need to make informed decisions.

How We Reduced the TAT to 5 Weeks

Reducing our TAT required a complete rethinking of our workflow, logistics, and technology. Here’s how we achieved this breakthrough:

1. Bioinformatics Automation – We implemented advanced bioinformatics automation tools to streamline data processing and variant interpretation. Our in-house technology efficiently identifies and categorizes relevant genetic variants, drastically reducing manual tasks and accelerating overall analysis.

2. AI-Powered Variant Prioritization – Our AI tool prioritizes the most clinically relevant genetic variants, significantly reducing the time needed for human intervention. With an accuracy rate of over 95%, the AI narrows down the top five variants for further investigation, improving speed and precision in variant analysis.

3. GEBRA as a software  – The GEBRA system is fully automated, minimizing human error and expediting the review process. This specialized software empowers our medical genetics team to deliver reliable, high-quality results faster, ensuring every report is both accurate and timely.

By addressing previous bottlenecks and optimizing each step, from sample collection to result delivery, we have successfully brought our TAT down to just five weeks.

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The Impact on Physicians and Patients

With our new 5-week TAT, the benefits for both physicians and patients are clear:

  • Faster Diagnosis – Physicians can identify rare diseases sooner, leading to earlier interventions that may dramatically improve outcomes.
  • Precise Treatment Planning – The accuracy of our sequencing data empowers physicians to tailor treatments, avoiding the trial-and-error approach often required with prolonged waiting periods.
  • Reduced Stress and Uncertainty – Shortened TATs alleviate the anxiety that comes with waiting, providing patients and their families with a clearer path forward.

Looking Ahead: Rapid WGS 

As we continue to push the boundaries of genetic testing, we are preparing to launch Rapid Whole Genome Sequencing (WGS) as a future initiative. This service will be designed to provide comprehensive genome analysis at unprecedented speeds, enhancing diagnostic accuracy and timeliness for complex or urgent cases. By integrating the latest advancements in bioinformatics automation, AI-powered variant prioritization, and our proprietary GEBRA software, Rapid WGS will represent a next-generation approach to genetic testing. Although not yet available, Rapid WGS reflects our vision for the future of precision medicine, where swift, actionable insights empower healthcare providers and improve patient outcomes.

For more details about our future plans with Rapid WGS, please feel free to reach us out here.

3billion: Leading the Way in Rare Disease Diagnosis

3billion’s commitment to solving the challenge of delayed genetic results is unwavering. With our 5-week TAT for WGS and WES, we are pioneering faster, more accurate rare disease diagnoses, empowering physicians to make timely decisions that directly benefit patient care. As we continue innovating, our goal remains clear: to provide healthcare providers and patients with the speed and accuracy they deserve in the fight against rare diseases.

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Sree Ramya Gunukula

Marketing Leader with experience in the pharma and healthcare sectors, specializing in digital health, genetic testing, and rare disease diagnostics.

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