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Mashup Score: 17Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol - 21 day(s) ago
Introduction Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation. This study aims to develop, implement and evaluate a genomic NBS (gNBS) pilot programme. Methods and analysis The BabyScreen+ study will pilot gNBS in three phases. In the preimplementation phase, study materials, including education resources, decision support and data collection tools, will be designed. Focus groups and key informant interviews will also be undertaken to inform delivery of the study and future gNBS programmes. During the implementation phase, we will prospectively recruit birth parents in Victoria, Australia, to screen 1000 newborns for ov
Source: bmjopen.bmj.comCategories: General Medicine News, General HCPsTweet
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Mashup Score: 0Exploring Regional Variation in Genomic Testing and Imaging in Prostate Cancer - Michael S. Leapman - 8 month(s) ago
In an interview with Matthew Cooperberg, Michael Leapman discusses his research on the use of genomic tests and imaging in prostate cancer and the resulting national practice patterns. Leapman found significant regional variation in the utilization of these tests, with areas rich in urologists and prostate cancer care showing higher adoption rates. He also observed a correlation between…
Source: www.urotoday.comCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 2Illumina and Pillar Biosciences partner to improve access to personalized cancer treatment options - 9 month(s) ago
Illumina Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, and Pillar Biosciences Inc., the pioneers of Decision Medicine™, today announced a strategic partnership to make Pillar’s suite of oncology assays commercially available globally as part of the Illumina portfolio of oncology products. The agreement will result in an unprecedented offering of complementary next-generation sequencing solutions that will enhance the efficiency, accuracy, and cost-effectiveness of oncology testing through advanced sequencing techniques, improving patient access to personalized cancer treatment options. “We are proud to partner with Pillar to provide products that will improve care for patients with advanced and high-risk cancer,” said Phil Febbo, chief medical officer of Illumina. “By leveraging Pillar’s targeted sequencing technology alongside Illumina’s state-of-the-art sequencing and bioinformatics solutions, we will enable rapid and focused genomic profiling
Source: investor.illumina.comCategories: Latest Headlines, Oncologists1Tweet
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Mashup Score: 0Largest Human Breast Cell Atlas to Date May Offer Insights Into Mammary Biology - The ASCO Post - 10 month(s) ago
By The ASCO Post Staff Posted: 6/30/2023 11:49:00 AM Last Updated: 6/30/2023 1:21:37 PM Researchers have created the world’s largest and most comprehensive atlas of normal breast tissue—the Human Breast Cell Atlas—which may provide an unprecedented understanding of mammary biology and help identify…
Source: ascopost.comCategories: Healthcare Professionals, Latest HeadlinesTweet
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Mashup Score: 3Mayo Clinic uses genomic testing broadly for rare diseases, improves patient care - Mayo Clinic News Network - 10 month(s) ago
A Mayo Clinic study published in Journal of Translational Medicine evaluated the use of genomic testing broadly for rare diseases.
Source: Mayo Clinic News NetworkCategories: General Medicine Journals and Societies, Latest HeadlinesTweet
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Mashup Score: 0Exploring Regional Variation in Genomic Testing and Imaging in Prostate Cancer - Michael S. Leapman - 10 month(s) ago
In an interview with Matthew Cooperberg, Michael Leapman discusses his research on the use of genomic tests and imaging in prostate cancer and the resulting national practice patterns. Leapman found significant regional variation in the utilization of these tests, with areas rich in urologists and prostate cancer care showing higher adoption rates. He also observed a correlation between…
Source: UroTodayCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 1
New data, new options for improved outcomes
Source: www.medpagetoday.comCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 4Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients - Nature Communications - 11 month(s) ago
Xeroderma pigmentosum (XP) is a rare genetic disorder that is associated with a higher risk of skin cancer. Here, the authors analyse the genomes of skin cancers from patients across five different XP groups, revealing genetic and molecular factors related to the mutational profile and UV-related mutagenesis in XP.
Source: NatureCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 0Privacy concerns sparked by human DNA accidentally collected in studies of other species - 11 month(s) ago
Two research teams warn that human genomic “bycatch” can reveal private information
Source: www.science.orgCategories: Healthcare Professionals, Latest HeadlinesTweet-
NB: #Privacy concerns sparked by human #DNA accidentally collected in studies of other species https://t.co/tygDmzF18U @ScienceMagazine 1. Inadvertent human #genomic #bycatch and intentional capture raise beneficial applications and ethical concerns with environmental DNA… https://t.co/LDiOBtweru https://t.co/YHOBJVcfSv
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Mashup Score: 1Wolters Kluwer Health - 12 month(s) ago
JavaScript Error JavaScript has been disabled on your browser. You must enable it to continue. Here’s how to enable JavaScript in the following browsers: Internet Explorer From the Tools menu, select Options Click the Content tab Select Enable JavaScript Firefox From the Tools…
Source: lww.comCategories: Hem/Onc News and Journals, Latest HeadlinesTweet
RT @ZornitzaS: 👉 Out now in @BMJ_Open our BabyScreen+ #genomic newborn screening study protocol 🧬👶 👉https://t.co/VPbbqbHUtT https://t.co/u…