GeneDx’s Post

The article discusses how a new approach using #exomesequencing could potentially replace the current two-step process for diagnosing #raregeneticdiseases in children. Researchers analyzed #geneticdata from nearly 10,000 families and found exome sequencing was as accurate or better at identifying disease-causing variations compared to #microarrays. This single test approach could enable faster and more accurate diagnoses. It may also save costs for the health service. Experts believe it could be adopted in #clinicalpractice with more training in #genomicanalysis. #genetictesting #genomicdata #rarediseases https://lnkd.in/d2R9tkyq

The Sequence for the week of 2/19-2/25 discusses the initial results from analyses of up to 245,000 genomes gathered by the All of Us program, almost half of which were from participants who self-identified as non-European. These breakthroughs enhance our understanding of health and disease and are key for equitable healthcare advancements. #genetics, #publicpolicy, #geneticcounseling, #precisionmedicine, #translationalmedicine, #genetictesting, #geneticresearch, #diabetes, #geneticvariation, #polygenicriskscores, #allofus, #healthequity

Have you wanted to discover if you had a genetic predisposition for certain cancers and heart disease? If you live in Nebraska or western Iowa, Nebraska Medicine and University of Nebraska Medical Center have created the Genetic Insights Project where you can receive genetic testing at no cost to you and health insurance is not required to participate. In addition to testing your risk for certain cancers and heart disease, you'll find out genetic traits that you carry. I learned I metabolize caffeine very quickly, likely to be an early bird (I have yet for that gene to kick in), and other fun genetic traits as you can see below. The Genetic Insights Project has a goal of enrolling 100,000 people in the areas I mentioned above with the goal to provide more personalized health care to patients and support new research for our community. For more information on the Genetic Insights Project including FAQs and enrollment, click here: https://lnkd.in/gTncmzkc #geneticinsights #genetictesting #nebraskamedicine #unmc

Today, on #LeapDay, the rarest day of the calendar year, we honor #RareDiseaseDay2024 alongside National Organization for Rare Disorders and Rare Disease Day.    Of the more than 7,500 rare diseases, 95% don’t have an approved treatment. Seventy percent of these diseases begin in childhood.    Rapid whole-genome sequencing (rWGS) is a form of genetic testing that empowers medical professionals to intervene quickly and make disease-specific treatment decisions that can impact the lives of babies born with #RareDisease. It can also help improve disease education and the development and approval of therapies for these conditions.     To learn more about the important potential of #rWGS for pharma, read our article in FiercePharma: https://lnkd.in/g7xgMmb4    #SentynlSeeks #RareDiseaseDay #ShareYourColours #LightUpForRare 

In 2021, Michigan became the first state to make rapid Whole Genome Sequencing a Medicaid-covered benefit for eligible babies hospitalized in intensive care. This groundbreaking coverage policy gave access to life-changing Rapid Precision Medicine, helping to end the diagnostic odyssey. Earlier this summer, Florida and Arizona added similar Medicaid coverage benefits for rWGS. There are now 13 states that have public and/or private coverage of rWGS. I’m thrilled at this progress across the country as we aim to make rWGS the standard of care for critically ill babies and children. https://lnkd.in/g2fbs5f3 #genomics #RareDisease #RapidPrecisionMedicine #WholeGenomeSequencing

We are excited to share our latest publication, "Newborn screening in Mexico and Latin America: present and future." This paper reviews the progress made in implementing and expanding newborn screening (NBS) programs across Latin America, with a special focus on Mexico. 📄 Read the publication here: https://lnkd.in/eeKFrMQS Despite significant advancements over the past 50 years, many children in the region still do not fully benefit from this vital public health strategy. The study also explores the potential future of NBS in light of new technologies like genomic sequencing, considering the economic and technological constraints in the region. Dive into our findings and join the conversation on how we can improve NBS for all children in Latin America. #IRDiRC #NewbornScreening #LatinAmerica Rare Disease and Orphan Drugs Journal

Currently, only 5% of rare diseases have an approved treatment. But the community of people living with rare diseases deserves to make informed decisions about their path of treatment just like everyone else. At Emmes, our biostatisticians take a unique approach, using statistics to design studies for these smaller populations. To explore more about Emmes’ statistics-first approach to creating effective trials, check out the link below. https://lnkd.in/gVBxAzpB #Emmes #clinicalresearchorginization #CRO #clinicaltrials #raredisease

On International Undiagnosed Day, we can unpack what having an unnamed disease means. While genome sequencing provides answers for 40% of people, that leaves 60% with an unnamed disease. The majority of children and adults seeking answers still don’t receive a diagnosis. The answer? Collaboration. The medical community around the globe can come together to fill in the gaps and share resources among countries to share the appropriate level of care. #Undiagnosed #UndiagnosedDiseaseDay #GenomeSequencing #InternationalUndiagnosedDay #UndiagnosedDay2024 #RareDiseaseAgency #Havas

The next frontier in genomic technologies for rare diseases It has been 40 years since the passage of the Orphan Drug Act, which catalysed the development of hundreds of therapies for rare diseases, with more than half approved in the last decade. In 2022, the UK government launched a Rare Diseases Action Plan in a bid to keep rare diseases in the spotlight. Despite positive progress, there are still more than 300 million people worldwide living with a rare condition, half of whom are children. We can expect more breakthroughs as the increased accessibility of long-read technology means it can be applied further and faster than ever before. Learn more in the article below. #genomictechnologies #rarediseases