Lifebit’s Post

🚀 New Report* Launch: Transforming Genomic Testing in Cancer Care We are excited to announce the launch of our latest report, “𝐈𝐦𝐩𝐫𝐨𝐯𝐢𝐧𝐠 𝐀𝐜𝐜𝐞𝐬𝐬 𝐭𝐨 𝐆𝐞𝐧𝐨𝐦𝐢𝐜 𝐓𝐞𝐬𝐭𝐢𝐧𝐠 𝐚𝐧𝐝 𝐌𝐞𝐝𝐢𝐜𝐢𝐧𝐞 𝐟𝐨𝐫 𝐂𝐚𝐧𝐜𝐞𝐫: 𝐁𝐨𝐨𝐬𝐭𝐢𝐧𝐠 𝐎𝐮𝐭𝐜𝐨𝐦𝐞𝐬 𝐚𝐧𝐝 𝐑𝐞𝐝𝐮𝐜𝐢𝐧𝐠 𝐈𝐧𝐞𝐪𝐮𝐚𝐥𝐢𝐭𝐢𝐞𝐬." This comprehensive study by PPP calls for a significant overhaul in the NHS's approach to genomic testing in cancer care.    🔬 Key Findings:  - Process & Capacity Issues: Onerous processes and lack of understanding by clinicians are major barriers.  - Pathology Lab Resources: Increased capacity and better technology implementation are crucial.  - Centralised Clinical Trials Database: A unified system for clinical trials is needed to enhance access and scientific discovery.  - Education & Awareness: Clinicians need better education and support to advocate for genomic testing. 📉 Despite advancements, there are still variations in access to genomic testing across the UK. Many clinicians are not fully aware of the benefits, highlighting the need for a robust education programme. 💬 Dr. Tony Patrikios, Executive Medical Director at Amgen UK, comments: “Rapid and easy access to genomic testing in cancer is crucial for delivering personalised, effective, and efficient healthcare, improving outcomes, and advancing our understanding and treatment of cancer. Equally important is ensuring that access to such testing is equitable for all patients." Join us in supporting the call for a culture shift in genomic medicine within the NHS. Together, we can make genomic testing as routine and straightforward as a blood test, ensuring every patient benefits from the latest advancements in cancer care. Read the full report here: https://lnkd.in/dUzQqePM *Amgen have provided sponsorship to support the delivery of the PPP Cancer Care Programme. PPP retains editorial control across all policy programmes. #GenomicTesting #CancerCare #HealthcareInnovation #CancerResearch  Rachel Millar

This article is a real glimpse into the future... A groundbreaking study, reported in Nature Medicine, shows the immense potential of whole-genome sequencing (WGS) in tailoring cancer treatments. Analysing both the inherited and mutated DNA in over 13,000 cancer patients, this study paves the way for personalised medicine, influencing treatment decisions across various cancers including brain, bowel, and lung. This approach aligns treatments more closely with individual genetic profiles and helps identify risks and susceptibilities. For instance, understanding genetic variations can reveal increased risks for certain cancers, like the BRCA1 mutation's link to breast and ovarian cancer. At Tektology, we recognise the monumental impact of such research. While we're just a small part of this vast ecosystem, our commitment is to support and amplify these innovations through our expertise in AI and and technology in health care. It's a testament to how technology can transform healthcare, ensuring patients receive not just quicker, but more personalised care. This study, a collaboration among Genomics England, NHS England, and several academic institutions, is not just a milestone in cancer research; it's a beacon of hope for millions. It exemplifies the kind of future we're striving for – one where technology and healthcare converge to offer the best possible outcomes for patients. #CancerResearch #Genomics #PersonalisedMedicine #HealthcareInnovation" https://lnkd.in/gtMNMQ5J

International Collaborative Study! #CollaborativeResearch We're elated to announce the remarkable findings from our collaborative latest study, "Molecular insights from comprehensive genomic profiling data in advanced metastatic colorectal cancer in South Asian populations: A retrospective observational study". Highlighting the benefit of precision medicine by giving the cancer patient best chance at fighting cancer. The study was published in the esteemed journal CRST, highlighting the significant insights into metastatic colorectal cancer in a Southeast Asian cohort. The research revealed that comprehensive genomic profiling (CGP) identified clinically actionable variants in 78.6% of patients. While 30.8% were eligible for targeted therapies, 29.5% harbored variants linked to therapeutic resistance. There were key mutations in APC, TP53, and KRAS, with significant genomic alterations in PIK3CA, SMAD4, BRAF, and others. Biomarker testing showed that 15.8% had a high tumor mutation burden, 14% had high microsatellite instability, and 26.8% were PD-L1 positive. CGP proves advantageous for improving patient outcomes by identifying therapy-eligible subsets. Find the full study: https://lnkd.in/gWUcynnm We are immensely grateful for the contributions made by each member of the research team. The success of this study in advancing patient care and outcomes is a testament to your unwavering dedication and exceptional contributions. Collaborating with the International Principal Investigators has been a true honor. A huge congratulations to everyone on the team. Nusrath Fathima, Kritika Verma, Paridhy Vanniya Subramanyam, Nilesh Mukherjee, Nishtha Tanwar, Sharanya J, Saranya Rangan V, Shreya Mahanti, Prabir Saha, Vyomesh Javle, Satya Prakash Khuntia, Harshi Santani, Ashwini Prakash, Sreekanth Reddy P., Pooja Gowda, Linu Varghese, Dr. Adwaita Gore, Dr. Anjana Sainani, Dr. Ashay Karpe Dr. Avinash CB, Dr. Bharat Patodiya, Dr. Ghanashyam Biswas, Dr. Nilesh Lokeshwar, Dr. rohit ranade, Dr. Necy Juat, Federico Miguel R, Dr. Annielyn Beryl, Dr. Catherine Teh, Surgeon, Dr. V. P. Gangadharan, Dr. Amit Jain, Dr. Mostafa A. Sumon, Dr.Ramakant Deshpande, Dr.Vijay Patil, Dr. Vishwanath Sathyanarayanan, Dr. A.V.S. Suresh, Dr. Bhuvan Chugh, Dr. Abhinav Zawar, Dr. Ajay Gupta, Dr. Akshay Shah, Ankur Punia, Dr. Kamruzumman Rumman, Dr. Mangesh Kamath, Dr.Saadvik Raghuram Y, Dr. Sai Vivek, Dr Sudip Shrestha, Dr. Vineet G. Gupta, Raja Pramanik, Dr. Bharat Bhosale, Dr. ARUN WARRIER, Dr. P. Guhan, Dr. Viraj Lavingia, Dr. Vinu Sarathy, Dr. Sourav Mishra, Dr. Raja Thirumalairaj, Dr Sandeep Nayak, Kshitij Rishi, Hitesh Goswami, Dr. Vidya H Veldore #Research #Cancer #Oncology #ColorectalCancer #CGP #TargetedTherapy #CRSTonline #4baseCare #TogetherWeBeatCancer

Unlocking Precision Medicine with Next-Generation Sequencing (NGS) As oncology continues to evolve, so does our understanding of cancer at the molecular level. One powerful tool that has revolutionized cancer research and patient care is Next-Generation Sequencing (NGS). Let’s explore some of the positive aspects of NGS: 1. Comprehensive Genomic Profiling: NGS allows us to analyze multiple genes simultaneously, providing a comprehensive view of a patient’s tumor. This information helps clinicians tailor treatment strategies based on the specific genetic alterations present. 2. Rare Tumors and Tumor-Agnostic Alterations: The recent update from the ESMO Precision Medicine Working Group recommends NGS testing for patients with rare tumors (such as gastrointestinal stromal tumors, sarcomas, thyroid cancer, and cancer of unknown primary). Additionally, NGS can detect tumor-agnostic biomarkers like NTRK1/2/3 fusions, RET and FGFR1/2/3 alterations, BRFAV600E mutations, MSI-H, and TMB-H. These alterations have shown clinical benefits in recent basket trials. 3. Optimizing Treatment Decisions: NGS helps identify actionable mutations, allowing clinicians to choose targeted therapies. For example, in advanced breast cancer, NGS testing is recommended after resistance to endocrine treatment to detect ESR1 mutations. It can also replace germline BRCA1/2 testing in most patients. 4. Speed and Cost Efficiency: NGS technology enables high-throughput sequencing, dramatically reducing the time and cost required for genome analysis. This efficiency benefits both patients and healthcare systems. 5. Monitoring Minimal Residual Disease (MRD): NGS can detect minimal residual disease (MRD) at deficient levels (e.g., ≥0.1% VAF), aiding in assessing treatment response and predicting relapse risk in conditions like acute myeloid leukemia. In summary, NGS empowers oncologists with precise information, guiding personalized treatment decisions. Let’s continue to embrace this cutting-edge technology to improve patient outcomes! #PrecisionMedicine #NGS #CancerResearch #Oncology #HealthcareInnovation #Genomics #PrecisionOncology

The Cancer Programme of the 100,000 Genomes Project stands as a groundbreaking initiative that intertwines whole-genome sequencing with real-world clinical data to usher in a new era of precision cancer care within the UK National Healthcare System. The integration of genomic information from 13,880 solid tumors across diverse cancer types provides invaluable insights, revealing variations in somatic mutations and actionable structural variants. Notably, the identification of homologous recombination deficiency in high-grade serous ovarian cancer, with a substantial link to pathogenic germline variants, underscores the significance of comprehensive somatic and germline analysis. The amalgamation of genomics and longitudinal clinical data not only enhances our understanding of cancer genes impacting prognosis but also opens avenues for refining patient stratification and advancing personalized treatment strategies. This pioneering effort not only propels genomics into the forefront of cancer research but also exemplifies the transformative potential of merging cutting-edge technologies with real-world patient experiences for improved cancer outcomes. #genomics #precisionmedicine #cancer

Snippet 18 The National Comprehensive Cancer Network (NCCN), the American College of Medical Genetics and Genomics (ACMG), and the American Society of Clinical Oncology (ASCO) are reputable organizations that provide guidelines to healthcare professionals, each focusing on different aspects of medical care, including cancer and genetic testing. Here are some key differences between NCCN guidelines, ACMG guidelines, and ASCO guidelines: 1. **Scope and Focus:**   - **NCCN Guidelines:** Primarily focused on cancer care, the #NCCNguidelines provide comprehensive recommendations for the management of various cancers, including genetic testing, screening, diagnosis, treatment, and survivorship care.   - **ACMG Guidelines:** The #ACMG provides guidelines primarily related to medical genetics and genomics. These guidelines cover a broad spectrum of genetic conditions, including hereditary disorders beyond cancer, and offer recommendations for genetic testing, interpretation, and counseling.   - **ASCO Guidelines:** #ASCO guidelines specifically pertain to oncology and cancer-related issues. They focus on various aspects of cancer care, including treatment options, supportive care, and the integration of genetic and genomic information into cancer management. 2. **Genetic Testing:**   - **NCCN Guidelines:** NCCN guidelines often include recommendations for genetic testing in the context of cancer risk assessment. They may provide guidance on selecting individuals for testing, appropriate testing methods, and management based on genetic test results.   - **ACMG Guidelines:** ACMG guidelines are more general and cover a wide range of genetic conditions. They provide recommendations for the interpretation of genetic test results and guide healthcare professionals in determining the clinical significance of identified genetic variants.   - **ASCO Guidelines:** ASCO guidelines may address the role of genetic testing in cancer care, including considerations for germline and somatic testing, and the integration of genetic information into treatment decision-making. 3. **Professional Specialty:**   - **NCCN Guidelines:** Primarily developed for #oncologists, #hematologists, and healthcare professionals involved in cancer care.   - **ACMG Guidelines:** Geared toward #medicalgeneticists, #geneticcounselors, and healthcare providers involved in the field of medical genetics and genomics.   - **ASCO Guidelines:** Targeted at oncologists and healthcare professionals specializing in #cancertreatment and #research. 4. **Publication Frequency:**   - **NCCN Guidelines:** Updated regularly to incorporate the latest evidence-based research and clinical developments.   - **ACMG Guidelines:** Periodically updated to reflect advancements in the field of medical #genetics.   - **ASCO Guidelines:** Updated as needed to incorporate new research findings and emerging trends in oncology. #parichaysr #geneticcounseling Image Courtesy - Centers for Disease Control and Prevention

A new study in Nature Medicine comprehensively analyzed 13,880 solid tumors from the 100,000 Genomes Project Cancer Programme, combining genome sequencing with clinical data to enhance precision oncology approaches. The Cancer Programme of the 100,000 Genomes Project offers groundbreaking insights into the world of precision oncology. This study, a collaboration between Genomics England and NHS England, delves deep into the genome sequencing of 13,880 solid tumors from 33 cancer types. The integration of whole-genome sequencing (WGS) with real-world clinical data opens up new horizons for understanding cancer at a molecular level. It sheds light on the frequency of somatic mutations and structural variants in various cancer types and provides a unique perspective on disease mechanisms. Key highlights: ➡ Glioblastoma multiforme: High prevalence of small variants (94%) and gene copy number aberrations (58%). ➡ Sarcoma: Highest occurrence of actionable structural variants (13%). ➡ High-grade serous ovarian cancer: 40% showed a lack of homologous recombination, with 30% linked to pathogenic germline variants. This groundbreaking research highlights the transformative potential of combining genomic and clinical data in oncology and represents a significant step towards tailored cancer therapies and improved patient outcomes. Read the full research article by Sosinsky et al. published in Nature Medicine, published on 11 January 2024, here: https://lnkd.in/gnKW7VBU Share your thoughts with us and follow us on LinkedIn to not miss our weekly publication posts! #WeeklyPublication #PrecisionOncology #PrecisionMedicine #PersonalizedMedicine #PersonalizedHealthcare #PatientOutcomes #OncologyResearch #Oncology #NatureMedicine #Genomics #GenomeSequencing #DataScience #DataAnalysis #ClinicalResearch #ClinicalData #CancerTherapy #CancerResearch #CancerProgramme #Cancer #100000GenomesProject

Sharing of health and genomic data across jurisdictions is crucial to catalyze innovation in precision oncology and gather the evidence needed to influence its implementation. Given its importance, many people are surprised – and concerned – to learn that such data sharing is in fact rare in Canada. In a new study – entitled “’I just assumed this was already being done’: Canadian patient preferences for enhanced data sharing for precision oncology” – published today in JCO Precision Oncology, a team led by Dr. Dean A Regier (BC Cancer and The University of British Columbia) presents results from focus groups conducted with individuals with a history of cancer to better understand their preferences and priorities with regards to data sharing. Recognizing these preferences and priorities can help data-sharing initiatives like the Marathon of Hope Cancer Centres Network develop frameworks that respond to patient needs and have the potential to enable high-quality research. “Developing data sharing platforms and consent and governance structures that are guided directly by patient input will help foster trust in bio-innovation and patient willingness to participate in data sharing initiatives,” says lead author Dr. Samantha Pollard (Simon Fraser University and BC Cancer). Learn more about the study ▶ https://lnkd.in/eXrRywWB The Terry Fox Research Institute, The Terry Fox Foundation, Health Canada | Santé Canada 

NOTEWORTHY Advances in Precision Medicine Mayo Clinic Launches TAPESTRY Revolutionizing Cancer Screening The Endeavor research team is excited to share a groundbreaking study from Mayo Clinic's Center for Precision and Personalized Medicine that could reshape cancer screening protocols and treatment algorithms. Read more about their findings here https://shorturl.at/WUML1 Here’s What Stands Out: 🔎 Key Findings: Current genetic screening protocols are failing to identify a significant number of individuals carrying mutations associated with hereditary breast and ovarian cancer syndrome, as well as Lynch syndrome—both of which substantially increase cancer risk. This is particularly acute among underrepresented minority populations. ❗Critical issue: National genetic screening guidelines are missing a substantial number of high-risk individuals. Identifying these genetic markers early can facilitate proactive screenings and design early treatment protocols, significantly improving patient outcomes. Importantly, the study highlights that underrepresented minority participants are most severely affected by these gaps in screening. 🌟 Innovative Solution - The TAPESTRY Initiative: Mayo Clinic’s TAPESTRY program has sequenced the exomes of over 100,000 patients and integrated these findings into electronic health records. This innovative approach not only enhances personalized care but also establishes a valuable dataset for future genetic research. The initiative aims to advance personalized medicine, offering tailored prevention and treatment strategies for all. Importantly, half of the patients were unaware of their genetic risks, and 40% would have missed out on testing under current guidelines. What Do You Think? How might expanding genetic screenings revolutionize early cancer detection and prevention? How do you envision precision medicine transforming personalized healthcare in the future? 👇 Feel free to share your thoughts with comments and likes! 🔄 If you found this insightful, please like, share, and comment to keep the conversation going! For a Deeper Dive For a deeper dive and more news like this, subscribe to our Newsletter: https://lnkd.in/gcFhTvh2 Events and Corporate page: https://rb.gy/0c2min YouTube Webinars: https://lnkd.in/gnAExDPR As a subscriber each week you’ll receive insights about the remarkable innovations in emerging Healthcare Startups, Investments from Venture Capital, and the Go-to-Market Growth Strategies to integrate these technologies into the healthcare system.🚀 #GeneticScreening #Cancer #CancerRisk #Medicine #HealthcareInnovation #MayoClinic #DrMartinAlexanderGershon #EndeavorVentureFunds #BetterHealth Dr. D. Martin Alexander Gershon, MD, JD, MPH Endeavor Venture Fund & Venture Studio

Leveraging the Power of Genomics in Precision Oncology: a first report from the UK’s NHS Cancer Programme ✅ Investigates the integration of whole-genome sequencing (WGS) linked with real-world clinical data. ✅ Analysing 13,880 solid tumors across 33 cancer types from the UK National Health Service's 100,000 Genomes Project. ✅ Explores clinical outcomes and identifies cancer genes that affect prognosis, assessing the prevalence of somatic and germline mutations, structural variants, and pangenomic markers. ☑ Key findings include the identification of clinically actionable genomic alterations, such as a high incidence of small variants and copy number aberrations in glioblastoma multiforme, or homologous recombination deficiency in a significant percentage of high-grade serous ovarian cancer cases. ☑ Worth assesing in detail is the predictive value presented of pangenomic markers like the distribution of TMB, MMR, HRD and other mutational signatures. ⁉ How can advancements in genomic profiling be leveraged to ensure: 1. A broader range of markers are tested consistently in clinical practice 2. Effectively scaled up for implementation across countries and centers DOI: https://lnkd.in/eiprEG5K