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
About us
At GeneDx, we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. It all starts with a single test.
- Website
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https://www.genedx.com
External link for GeneDx
- Industry
- Biotechnology Research
- Company size
- 1,001-5,000 employees
- Headquarters
- Stamford, CT
- Type
- Public Company
- Specialties
- genetic testing, rare genetic disorders, molecular diagnostics, whole genome sequencing, next generation sequencing, neonatal screening, whole exome sequencing, genome, genetics, artificial intelligence, and exome
Locations
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Primary
333 Ludlow Street
8th Floor
Stamford, CT 06902, US
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207 Perry Pkwy
Gaithersburg, Maryland 20877, US
Employees at GeneDx
Updates
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We are happy to see essential laws pass for rWGS in states like Connecticut in order for infants to receive critical testing.
On July 1, Rapid Whole Genome Sequencing (rWGS) was passed into law in Connecticut, where GeneDx is headquartered. I’m so proud to share that one of GeneDx’s own, Benjamin King, was essential in helping pass this law with his testimony in the legislative hearing – Ben's daughter Olivia passed away from a rare disease and received rWGS from GeneDx. Following her passing, Ben joined our sales team in efforts to support his life work to help expand access to WGS for children. Yesterday Ben spoke at a UConn Health Press Conference to celebrate the law. I’m so grateful to Ben for sharing his story to showcase the impact of rWGS firsthand to increase awareness for the benefits and availability of rWGS for Connecticut providers and families. We are excited to see biomarker legislation continue to pass throughout the country and know the direct impact these laws will have on patients and families. I am also thrilled to see elected officials like Rep. Jillian Gilchrest encourage private insurers to follow Medicaid’s precedent and cover this critical testing for newborns.
Medicaid families in CT now have access to genetic testing for NICU newborns
https://www.nbcconnecticut.com
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Exome sequencing identified Carlotta’s genetic condition and allowed her family and doctors to better understand what they could do to help her long-term prognosis. We believe personalized, targeted medicine like this represents the future of healthcare, and we’re honored to help families like Carlotta’s each and every day.
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Meet Oliver. After years of unanswered questions, #exome sequencing finally found the #genetic explanation for his symptoms—in weeks. See why society guidelines recommend exome first: https://genedx.co/4cwNd11 #IntellectualDisability #DevelopmentalDelay #Autism
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This Disability Pride Month, GeneDx celebrates breaking down barriers and honoring all the expressions of humanity. Here’s to continuing to support positive change and inclusion, together. #DisabilityPride #DisabilityPrideMonth #GeneticTesting
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For patients with #epilepsy, a precise #genetic diagnosis can help guide clinical decisions, impact treatment, and influence management, sooner. It’s time to embrace guideline-recommended #exome #sequencing as the standard of care. Learn more at https://genedx.co/4eCqked
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Ordering rapid genome sequencing as a first-line test can make all the difference for acutely ill newborns. Learn more at https://lnkd.in/g7CSDFZh
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At the top of this month The New York Times published “She Was Told She Had an Untreatable Disease. But Did She?” This woman’s story represents the diagnostic odyssey many families of children with unexplained medical issues endure – going decades without answers and therefore no access to appropriate therapies and treatments. Today thanks to whole exome sequencing and genome sequencing, we can identify inherited disorders at birth. Whole exome or genome sequencing should be offered at the first sign of concerning symptoms like seizures, developmental delay, or not being able to walk as experienced by this patient – not the last. If this patient was born today in New York City, her parents would have had access to enroll her in the GUARDIAN newborn screening study, shortening her journey to a few weeks instead of nearly 40 years. Launched by Columbia University, GUARDIAN uses genome sequencing to test for 450 genetic conditions, including COLQ (the causal gene in this story associated with congenital myasthenic syndrome), not currently included in standard newborn screening and provides the opportunity for pediatric patients to access accurate testing and life changing treatments. In the world I envision, families of all newborns will have the chance to access testing for a genetic diagnosis at birth and, ideally, the support and treatment they need to live their lives to the fullest.
She Was Told She Had an Untreatable Disease. But Did She?
https://www.nytimes.com
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Exome sequencing can unlock more effective epilepsy treatments for up to 8 out of 10 patients. The time for exome is now. Learn more at GeneDx.com/epilepsy.
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