Unlocking Clues: GeneDx Reveals Breakthrough—Whole Exome and Genome Sequencing Slash Variants of Uncertain Significance (VUS) Compared to Multi-Gene Panels! Findings Featured in Genetics in Medicine

Unveiling Genomic Insights: GeneDx Sparks Transformation in Genetic Diagnosis STAMFORD, Conn., Aug. 21, 2023 — In a groundbreaking stride towards deciphering the genetic enigma, GeneDx has illuminated the path to enhanced health outcomes through profound genomic revelations. The stage is set by Genetics in Medicine, the esteemed journal of the American College of Medical Genetics and Genomics (ACMG), showcasing the outcome of a multi-lab symphony conducted by GeneDx.

Bridging the realms of science and discovery, the study titled “The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change” has emerged as a beacon of transformation. This symphony harmoniously contrasts the rate of enigmatic genetic variants, those perplexing Variants of Uncertain Significance (VUS), between the world of multi-gene panels and the expanse of exome and genome sequencing. The crescendo of revelation rings out: multi-gene panels resound with VUS at a staggering 32.6%, while exome and genome sequencing paint a clearer picture at 22.5%.

Dr. Heidi L. Rehm, the maestro behind this symphony and Professor of Pathology at Massachusetts General Hospital, declares, “The weight of VUS prevalence on multi-gene panel tests is a burden we no longer need to bear. As our composition’s title echoes, it’s time for a transformative tune.” With conviction, she sets the stage for innovation, urging a shift that streamlines clinician efforts toward the crucial follow-up of significant VUS.

The resonance of revelation echoes beyond the symphony hall as it aligns with the evidence-laden ACMG clinical guidelines. A harmonious melody is struck, resonating with the directives of the National Society of Genetic Counselors Society (NSGC), endorsed in symphony by the American Epilepsy Society (AES). They harmoniously recommend exome and genome testing as the opening crescendo for individuals navigating congenital anomalies, developmental delay, intellectual disability, or epilepsy.

Dr. Paul Kruszka, the Chief Medical Officer at GeneDx, exclaims, “Behold the transformation—whole exome and genome sequencing are the arias of accuracy. They unveil answers, dispel uncertainty, and unveil hope for families embarking on diagnostic journeys. With this revelation, the symphony of understanding grows louder, leading us toward the dawn of a new genetic era.”

Study Design:

During an intriguing research endeavor, 19 cutting-edge clinical laboratories located across North America joined forces. Their mission? To delve into the secrets hidden within a treasure trove of data spanning two impactful years, from January 2020 to December 2021. Picture this: a staggering 1.5 million sequencing test results, each one like a puzzle piece contributing to the bigger picture. These labs took on the challenge, meticulously crafting deidentified summaries that held the essence of these tests.

But what kind of tests, you ask? Well, here’s the twist: we’re talking about tests that left some scratching their heads, the ones yielding inconclusive results featuring a mysterious character called VUS. And hold on, not all tests made the cut. Those straightforward carrier screenings, they were given a pass. After all, we’re chasing the enigma of VUS here!

Now, let’s talk variety. The tests were grouped based on their gene-packed panels, creating a colorful mosaic of insights. But that’s not all—brace yourself for the next level of genetic exploration. Exome and genome tests stepped onto the stage, each categorized according to the presence of family members’ genetic samples: the dynamic trio, the daring duo, or the solo protagonist.

But wait, there’s more! Some of these labs took things up a notch. They dared to cross the boundaries of twelve broad disease indications, taking a bird’s-eye view of how these elusive VUS-infused results played out across different medical landscapes.

So there you have it, a journey that transcends the mundane, where laboratories became detectives, data became the trail, and inconclusive became intriguing. Welcome to the world where genes reveal their secrets in the most unexpected ways.

Study Results Include:

In the realm of genetic exploration, where codes and mysteries intertwine, a remarkable discovery has been unveiled. Imagine a world where exome and genome sequencing tests, like daring adventurers, stand apart from the crowd of multi-gene panel tests. Here’s the scoop: these tests carry a secret weapon against uncertainty.

Intriguingly, a recent study has uncovered some captivating findings:

  1. Picture this—a dance between certainty and ambiguity. Exome and genome sequencing tests take the lead with a mere 22.5% of reported Variants of Uncertain Significance (VUS), while multi-gene panels follow with 32.6%. It’s like watching a cosmic waltz between different layers of genetic understanding.
  2. But wait, there’s a twist in the tale! The introduction of genetic trios—a hero, a sidekick, and a guide—unveils a new dimension. The rate of VUS in exome and genome sequencing drops to a mesmerizing 18.9%. Compare that to the solo protagonist or dynamic duo, standing at 27.6%. It’s the power of collaboration, even on the microscopic stage of genes.

And the buzz doesn’t stop there. The wisdom garnered from this study was showcased in a grand unveiling at the American Society of Human Genetics (ASHG) 2022 Annual Meeting. Imagine minds coming together, sharing these genetic revelations as if passing around priceless artifacts of knowledge.

So there you have it—genetic tales that read like adventure stories. A world where sequences reveal their truths and uncertainties, inviting us to dance with the enigmatic beauty of life’s building blocks.

About GeneDx

Step into the realm of genetic wonder with GeneDx (Nasdaq: WGS), a herald of personalized health revelations. Imagine a world where your DNA isn’t just a code, but a roadmap to insights that shape diagnoses, steer treatments, and unveil new horizons in drug discovery. This isn’t your average company—it’s a catalyst for change, a torchbearer of the future of healthcare.

GeneDx isn’t following trends; it’s setting them ablaze. Picture a symphony of genomics and clinical wisdom harmonizing to fast-track the age of precision medicine. It’s like watching the dawn of a new era, where every treatment is as unique as a fingerprint and diagnoses are finely tuned like a masterpiece.

And that’s just the beginning. GeneDx doesn’t dabble—it dives deep into the ocean of exomes and genomes, painting a vibrant mosaic of understanding. Those rare disease threads that once seemed lost in the tapestry of genetics? GeneDx has gathered them, forming one of the world’s grandest collections. It’s like holding stardust in your hands, transforming information into power.

Imagine a tale of science and empathy entwined, where genetic data isn’t just decoded—it’s harnessed to guide lives. GeneDx is leading the charge, a conductor in the symphony of transformation. In a world where healthcare isn’t just a service but a personalized journey, GeneDx lights the way, reminding us that our genes hold the key to a healthier future.

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