Genomic and precision medicine
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Classification, Ontology, and Precision Medicine | NEJM

Review Article from The New England Journal of Medicine — Classification, Ontology, and Precision Medicine
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ClinGen Curated Genes Summaries - ClinGen Knowledge Base | Clinical Genome Resource

ClinGen Curated Genes Summaries - ClinGen Knowledge Base | Clinical Genome Resource | Genomic and precision medicine | Scoop.it
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Genetic Privacy Concerns Run Deep Among Research Study Participants

Genetic Privacy Concerns Run Deep Among Research Study Participants | Genomic and precision medicine | Scoop.it
The new analysis also uncovered knowledge gaps about why people are worried about genetic privacy.
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The FDA just approved a drug that targets cancers based on DNA, rather than where the tumour is in your body | Business Insider

The FDA just approved a drug that targets cancers based on DNA, rather than where the tumour is in your body | Business Insider | Genomic and precision medicine | Scoop.it
The Food and Drug Administration on Monday took an unconventional approach to approving a new cancer drug.
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FDA Tells Patients, Docs to Take Caution When Using Unapproved PGx Tests to Make Treatment Decisions

FDA Tells Patients, Docs to Take Caution When Using Unapproved PGx Tests to Make Treatment Decisions | Genomic and precision medicine | Scoop.it
The agency informed the public that most PGx tests haven’t been reviewed by the agency, and they should refer to information in FDA approved product labels when using such tests.
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Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) | Genomic and precision medicine | Scoop.it
Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goa
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Opportunities in genomic testing and precision medicine | McKinsey

Opportunities in genomic testing and precision medicine | McKinsey | Genomic and precision medicine | Scoop.it
Advanced analysis of genomic testing integrated with electronic medical records and other data sets, combined with effective reimbursement strategies and full data-regulatory compliance, will distinguish winning diagnostics companies.
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Lung Cancer Study Presented at ASHG Finds Pathogenic Germline Variants in 8.5 Percent of Patients

Lung Cancer Study Presented at ASHG Finds Pathogenic Germline Variants in 8.5 Percent of Patients | Genomic and precision medicine | Scoop.it
Researchers at Memorial Sloan Kettering Cancer Center identified clinically actionable germline mutations in 8.5 percent of about 2,700 unselected lung cancer patients.
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Clinical utility of expanded carrier screening: results-guided actionability and outcomes

Clinical utility of expanded carrier screening: results-guided actionability and outcomes | Genomic and precision medicine | Scoop.it
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We will find you: DNA search used to nab Golden State Killer can home in on about 60% of white Americans

We will find you: DNA search used to nab Golden State Killer can home in on about 60% of white Americans | Genomic and precision medicine | Scoop.it
Researchers call for limiting how ancestry databases can be used to protect privacy
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Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing | Genetics and Genomics | JAMA | JAMA Network

This genetic epidemiology study uses data from a commercial genetic test laboratory to characterize the proportion of genes of uncertain clinical significance that were reclassified into more determinate benign or pathogenic categories of risk based on emerging evidence among patient
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The UK Biobank resource with deep phenotyping and genomic data

The UK Biobank resource with deep phenotyping and genomic data | Genomic and precision medicine | Scoop.it
Deep phenotype and genome-wide genetic data from 500,000 individuals from the UK Biobank, describing population structure and relatedness in the cohort, and imputation to increase the number of testable variants to 96 million.
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Challenges in implementing genomic medicine: the 100,000 Genomes Project

Challenges in implementing genomic medicine: the 100,000 Genomes Project | Genomic and precision medicine | Scoop.it
Journal of Translational Genetics and Genomics is an open access journal, publishing articles related to single gene disorders, rare genetic disease, specific genetic syndromes, complex disease, etc.
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Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark

Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark | Genomic and precision medicine | Scoop.it
Background An estimated 5–10% of breast and ovarian cancers are due to hereditary causes such as hereditary breast and ovarian cancer (HBOC) syndrome. Medicare, the third-party payer that cover
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Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels | Genomic and precision medicine | Scoop.it
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Comparison of genome sequencing and clinical genotyping for pharmacogenes. - PubMed - NCBI

Clin Pharmacol Ther. 2016 Oct;100(4):380-8. doi: 10.1002/cpt.411. Epub 2016 Aug 18. Comparative Study; Research Support, N.I.H., Extramural
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Genotype, phenotype, and medication recommendation agreement among commercial pharmacogenetic-based decision support tools

Genotype, phenotype, and medication recommendation agreement among commercial pharmacogenetic-based decision support tools | Genomic and precision medicine | Scoop.it
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FDA Actions on PGx Testing Confuse Genetic Industry Players

FDA Actions on PGx Testing Confuse Genetic Industry Players | Genomic and precision medicine | Scoop.it
The genetic testing community is having a tough time deciphering FDA's intentions based on its authorization of 23andMe’s PGx test and a recent safety alert.
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20-in-1 Free PDF Tool for Teachers

20-in-1 Free PDF Tool for Teachers | Genomic and precision medicine | Scoop.it
Free resource of educational web tools, 21st century skills, tips and tutorials on how teachers and students integrate technology into education
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Pharmacogenomic variants have larger effect sizes than genetic variants associated with other dichotomous complex traits

Pharmacogenomic variants have larger effect sizes than genetic variants associated with other dichotomous complex traits | Genomic and precision medicine | Scoop.it

Median odds ratios for PGx studies is 2.5, compared to ORs for complex diseases - 1.3

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Map of Pharmacogenetic Test Reimbursement According to MAC | Ignite

Map of Pharmacogenetic Test Reimbursement According to MAC | Ignite | Genomic and precision medicine | Scoop.it
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Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis

Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis | Genomic and precision medicine | Scoop.it
Using a clustering Bayesian approach applied to GWAS, Jose Florez and colleagues identify traits and loci associated with type 2 diabetes that may be used to classify patients.
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease | NEJM

Original Article from The New England Journal of Medicine — Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
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The approach to predictive medicine that is taking genomics research by storm

The approach to predictive medicine that is taking genomics research by storm | Genomic and precision medicine | Scoop.it
Polygenic risk scores represent a giant leap for gene-based diagnostic tests. Here’s why they’re still so controversial.
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