Sharon Terry’s Post

Derek Ansel, MS, CCRA, a speaker in our webinar today, wrote a recent blog about the impact genetic counselors can bring to rare disease trial enrollment and his research into genetic counselors' knowledge and confidence in this area. "Earlier diagnosis presents a strong [research] enrollment pathway for potential candidates, and their genetic counselors may play a valuable part in referrals. It’s essential to partner with genetic counselors to capitalize on that critical moment of diagnosis to discuss clinical trial options." Join us for our webinar today (1-3pm ET) to hear Derek discuss the genomics workforce in clinical trials. Register here: https://lnkd.in/gppCGBgB #clinicalresearch #genechat #geneticcounseling #raredisease Worldwide Clinical Trials https://lnkd.in/ejvGdHt3

Coding variants, especially single-nucleotide variants, are genetic alterations occurring within the coding region of the genes and are widely studied in human diseases. However, what are the effects of non-coding variants? In our new blog post, we discuss the preprint from Lord et al., 2023 showing a causal relationship between a newly found non-coding variant and developmental disorders. https://lnkd.in/dHmkjPU9 #SNPs #Genomics #Transcriptomics #Bioinformatics #Lexanomics

President & CEO Dr. Stephen Kingsmore shares with AJMC - The American Journal of Managed Care how phase 2 of the #BeginNGS program will remain committed to identifying rare diseases at the earliest possible stage. He highlights the gap between current screening practices and what is possible using genomic sequencing. BeginNGS aspires to bridge this divide, using high-throughput, cost-effective genome sequencing combined with traditional newborn screening methods. Learn more: https://lnkd.in/gs7yHfS2 #genomics #WholeGenomeSequencing #RapidPrecisionMedicine #newbornscreening

How a Cutting-Edge Genetic Test Helps Ill Newborns, Pregnant Moms UCSF is the first in Northern California to offer rapid test in-house for faster and more accurate diagnosis of rare genetic conditions. Unlike other forms of genetic testing, rapid whole genome sequencing (rWGS) works by running a person’s entire DNA sequence instead of looking at individual genes, a limited selection of genes or just the protein-coding regions of genes. It’s more likely to get to a diagnosis and is also usually faster than other testing options. As Center Co-Director Mary Norton, MD, explains "In some cases, there is in utero treatment available for the condition we find. When we get results earlier, we can get our patients in to see specialists earlier.” Discover more: https://lnkd.in/eusgnZRd #genetictesting #raredisease

Today is Genetic Counselor Awareness Day! It's a day that is dedicated to empowering genetic counselors to help raise awareness about what they do in our communities, and to help patients understand the vital role they play in their healthcare journey. While I'm not a GC myself, I've had the pleasure of working with a few amazing ones here at Illumina, including Marcos Gonzales, Holly Snyder and Melissa Dempsey. And we're all part of Illumina's mission to end the diagnostic odyssey as: 💡 At least 250 million people worldwide are living with a rare disease. 💡 80% of these are genetic or have a genetic component. 💡 But most will go undiagnosed for years – or a lifetime. Which is why we're so dedicated to accelerating access to genome sequencing. So that as many families as possible can gain answers as quickly as possible. https://lnkd.in/g7swz-e9 #illuminaproud #genomics #diagnosticodyssey #geneticcounselorawarenessday

“We’re learning more and more about the genetic underpinnings of people who have cardiovascular diseases, and hopefully we are moving from a treatment paradigm to a prevention paradigm. I would not be surprised if we could cut those numbers [of people with cardiovascular disease] in half with the proper therapies that people stay on.” Our CEO Benjamin Oakes spoke with the Institute of Biomedical Science's The Biomedical Scientist Magazine about the future of #CRISPR genome editing, including our CRISPR by Design™ approach to enable in vivo genetic medicine with greater therapeutic potency. Read more in the full article: https://ow.ly/Yh0O50Rwoqg #CRISPRbyDesign #GeneEditing #MolecularEngineering #EpigeneticEditing #GeneticMedicine

If there is an effective treatment for a disease, it should be screened. If not, it doesn't make sense. Moreover, the genome sequencing should be kept safe until symptoms emerge and that´s when consulting the screening would be a valuable resource.

Explore the profound implications of rare genetic variants on disease susceptibility and clinical outcomes. Through the lens of modern sequencing technologies and familial studies, this blog sheds light on the association of rare variants with diseases like Dravet Syndrome, Cystic Fibrosis, and Hypertrophic Cardiomyopathy. Uncover the challenges of replicating genetic findings due to population variability and how familial studies offer a pathway to navigate these challenges, enhancing our understanding of complex genetic networks underlying various diseases. #Genetics #RareVariants #GeneticDiseases

A milestone study in Austalia pave the way to sequencing every child at birth. Illumina's advanced whole genome sequencing technology and the Emedgene software will revolutionize newborn screening and diagnostic processes for rare genetic diseases. 🔬 Comprehensive Genetic Profiling: Identifies mutations across the entire genome. 📊 Improved Diagnostic Accuracy: Pinpoints exact genetic causes of diseases 🚀 Speeding Prioritization: eMedgene software accelerates variant interpretation. 💊 Personalized Treatment Plans: Tailors healthcare strategies to individual profiles. 🔍 Research Advancements: Facilitates the discovery of new genetic links. https://lnkd.in/dNHgaJk7 #Genomics #HealthcareInnovation #PrecisionMedicine #Illumina #WholeGenomeSequencing #HealthcareRevolution #GeneticResearch #newbornscreening #NICU #genomicmedicine #WGS

There is increasing interest in using next generation sequencing (#NGS) in newborn screening (#NBS) for cystic fibrosis (#CF). Read the following two papers to get a better view of this topic: Title: Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England Link: https://lnkd.in/dGMJZXK5 Title: International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis Link: https://lnkd.in/d7R2uvtX