What a humbling experience to stand beside such distinguished individuals and honor our daughter, Olivia, by contributing to new legislation in Connecticut for Medicaid coverage of rapid whole genome sequencing. I am so grateful to GeneDx for encouraging and supporting my participation. I cannot find the words to express what it means to work for such a passionate and mission driven organization. Each individual on the GeneDx team is deeply invested in the cause, knowing that every test ordered is a patient, maybe one like Olivia, who's life could be changed, even saved, by the result. There are over 7000 known rare diseases. Rare disease affects 1 in 10 Americans (between 25 and 30 million). 80% have an underlying genetic cause. We know firsthand the challenges faced by families and providers managing their care. In my wife, Jenna King's words, "the diagnosis should be the easy part." Whole exome and genome sequencing are the most comprehensive and scientifically advanced diagnostic tool currently available to rare disease patients. They also contribute to gene discovery increasing their potential to deliver answers daily. An early diagnosis significantly reduces overall healthcare costs, not to mention saving the family months or years of emotional expense. In my previous career, to win there had to be a loser. In life we scarcely encounter obstacles for which the solution is such a unanimous win. A win first and foremost for the patient and their family, a win for the clinicians on their care team, a win for the institution, for the patient's insurance, and for the labs. I could elaborate on each. Those far more educated than me have described this bill as "a no brainer." To the state of Connecticut on behalf of rare disease families, thank you and congratulations! https://lnkd.in/e8GFDjcq https://lnkd.in/efucqMtB
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Recommended by guidelines as a first-line test. More likely to deliver a diagnosis. The time for #exome and #genome sequencing is now. https://www.genedx.com/
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Helping more patients with epilepsy find answers through guideline-backed exome sequencing. GeneDx has teamed up with leading biopharma partners to offer the Epilepsy Partnership Program. Learn more → https://genedx.co/467Sbih
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1 in 4 infants in the NICU likely have a genetic disorder. By identifying it early, rapid genome sequencing can enable a precise diagnosis and improve outcomes. #NICUAwareness
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Today, standard newborn screening only includes several dozen conditions. At GeneDx, we see a future where genome sequencing is used to detect hundreds of additional conditions at birth. Discover 7 important facts about newborn screening with genome sequencing (gNBS). Interested in learning more? Join our Sept. 26 webinar: https://genedx.co/4dYEo0C
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Diversity in genetic data is key to providing insights to all patients. That’s why we’re proud to announce our contributions to the most diverse study to date on how recessive genetic changes contribute to developmental disorders. Leveraging GeneDx's unmatched, diverse dataset, the Wellcome Sanger Institute analyzed genetic data from nearly 30,000 families affected by developmental disorders—six times more families with greater diversity in ancestral backgrounds than previous publications. Published today in Nature Genetics, the study found that known genes explain about 84% of developmental disorders caused by recessive genetic variants. What’s more, it revealed that genetic variants vary significantly across ethnic groups, highlighting the importance of diversity in genomic analysis and research. Over the past two decades, GeneDx has built one of the most robust genomics datasets that is representative of the diverse ancestries of the US population. And we’re not stopping there. We’re dedicated to understanding genetic variants across a broad range of genetic ancestry groups, bridging gaps and bringing clarity to conditions that are more common in underrepresented populations. Read more about the study → https://lnkd.in/eCg97-Nt
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Join Dr. Paul Kruszka, Dr. Wendy Chung, and Nicki Berry next Thursday for a live webinar on the evolving landscape of newborn screening, its vital role in early diagnosis and intervention, and the latest updates on the GUARDIAN study, which enhances traditional newborn screening with genome sequencing. Register now → https://genedx.co/4dYEo0C
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