Genomic and precision medicine
6.9K views | +0 today
Follow
Genomic and precision medicine
Your new post is loading...
Your new post is loading...
Scooped by Genomeducator
Scoop.it!

Proposed guidelines to evaluate scientific validity and evidence for genotype-based dietary advice

Proposed guidelines to evaluate scientific validity and evidence for genotype-based dietary advice | Genomic and precision medicine | Scoop.it
Nutrigenetic research examines the effects of inter-individual differences in genotype on responses to nutrients and other food components, in the context of health and of nutrient requirements. A practical application of nutrigenetics is the use of persona
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) | Genomic and precision medicine | Scoop.it
ACMG Practice Resource
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Sizing up whole-genome sequencing studies of common diseases

The triplet code underpins analyses of rare and de novo mutations in exome sequencing data, but analysis of the noncoding genome is much more challenging. A new analytical framework for common, complex diseases highlights the need for very large samples to overcome the unavoidable multiple-testing burden and hence provides preemptive warnings against underpowered studies.
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature | Genomic and precision medicine | Scoop.it
Systematic Review
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study | Genomic and precision medicine | Scoop.it
By enabling more precise antigen-matching of patients with blood donors, antigen typing
based on whole-genome sequencing provides a novel approach to improve transfusion
outcomes with the potential to transform the practice of transfusion medicine.
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Secondary findings in exome slices, virtual panels, and anticipatory sequencing

Comment
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC

Abstract. The identification and interpretation of genomic variants play a key role in the diagnosis of genetic diseases and related research. These tasks incr
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

American Gut: an Open Platform for Citizen Science Microbiome Research

Although much work has linked the human microbiome to specific phenotypes and lifestyle variables, data from different projects have been challenging to integrate and the extent of microbial and molecular diversity in human stool remains unknown. Using standardized protocols from the Earth Microbiome Project and sample contributions from over 10,000 citizen-scientists, together with an open research network, we compare human microbiome specimens primarily from the United States, United Kingdom, and Australia to one another and to environmental samples. Our results show an unexpected range of beta-diversity in human stool microbiomes compared to environmental samples; demonstrate the utility of procedures for removing the effects of overgrowth during room-temperature shipping for revealing phenotype correlations; uncover new molecules and kinds of molecular communities in the human stool metabolome; and examine emergent associations among the microbiome, metabolome, and the diversity of plants that are consumed (rather than relying on reductive categorical variables such as veganism, which have little or no explanatory power). We also demonstrate the utility of the living data resource and cross-cohort comparison to confirm existing associations between the microbiome and psychiatric illness and to reveal the extent of microbiome change within one individual during surgery, providing a paradigm for open microbiome research and education.

more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer

This population-based cohort study examines the effect of multiple-gene sequencing on the experiences and treatment outcomes of patients with breast cancer.
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

What to know about health report test results - 23andMe

What to know about health report test results - 23andMe | Genomic and precision medicine | Scoop.it


Read about the uses and test performance of our health reports.

more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

The microbiome in cancer immunotherapy: Diagnostic tools and therapeutic strategies

The microbiome in cancer immunotherapy: Diagnostic tools and therapeutic strategies | Genomic and precision medicine | Scoop.it
The fine line between human health and disease can be driven by the interplay between host and microbial factors. This “metagenome” regulates cancer initiation, progression, and response to therapies. Besides the capacity of distinct microbial species to modulate the pharmacodynamics of chemotherapeutic drugs, symbiosis between epithelial barriers and their microbial ecosystems has a major impact on the local and distant immune system, markedly influencing clinical outcome in cancer patients. Efficacy of cancer immunotherapy with immune checkpoint antibodies can be diminished with administration of antibiotics, and superior efficacy is observed with the presence of specific gut microbes. Future strategies of precision medicine will likely rely on novel diagnostic and therapeutic tools with which to identify and correct defects in the microbiome that compromise therapeutic efficacy.
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care | Genomic and precision medicine | Scoop.it
Original Research Article
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

What Do Primary Care Docs Need in Terms of Genomic Clinical Decision Support? | Healthcare Informatics Magazine | Health IT | Information Technology

What Do Primary Care Docs Need in Terms of Genomic Clinical Decision Support? | Healthcare Informatics Magazine | Health IT | Information Technology | Genomic and precision medicine | Scoop.it
At the Children’s Hospital of Philadelphia, work on genomic clinical decision support has started with a focus on primary care.
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

When genomic medicine reveals misattributed genetic relationships—the debate about disclosure revisited

Misattributed parentage prevalence estimates vary from 1 to 30% (the Nuffield Council of Bioethics cites a “current best estimate of 1–3%” from a range of studies,21 while a meta-analysis found a median of 4% across 17 studies

more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

This analysis compares methods for estimating the heritability and genetic architecture of complex traits using whole-genome data. The results provide guidance for best practices and proper interpretation of published heritability estimates.
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes | Genomic and precision medicine | Scoop.it

Why Del/Dup analysis matters!

more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Implementation of a patient-facing genomic test report in the electronic health record using a web-application interface | BMC Medical Informatics and Decision Making

Genomic medicine is emerging into clinical care. Communication of genetic laboratory results to patients and providers is hampered by the complex technical nature of the laboratory reports. This can lead to confusion and misinterpretation of the results resulting in inappropriate care. Patients usually do not receive a copy of the report leading to further opportunities for miscommunication. To address these problems, interpretive reports were created using input from the intended end users, patients and providers. This paper describes the technical development and deployment of the first patient-facing genomic test report (PGR) within an electronic health record (EHR) ecosystem using a locally developed standards-based web-application interface. A patient-facing genomic test report with a companion provider report was configured for implementation within the EHR using a locally developed software platform, COMPASS™. COMPASS™ is designed to manage secure data exchange, as well as patient and provider access to patient reported data capture and clinical display tools. COMPASS™ is built using a Software as a Service (SaaS) approach which exposes an API that apps can interact with. An authoring tool was developed that allowed creation of patient-specific PGRs and the accompanying provider reports. These were converted to a format that allowed them to be presented in the patient portal and EHR respectively using the existing COMPASS™ interface thus allowing patients, caregivers and providers access to individual reports designed for the intended end user. The PGR as developed was shown to enhance patient and provider communication around genomic results. It is built on current standards but is designed to support integration with other tools and be compatible with emerging opportunities such as SMART on FHIR. This approach could be used to support genomic return of results as the tool is scalable and generalizable.
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

A causal mechanism for childhood acute lymphoblastic leukaemia

A causal mechanism for childhood acute lymphoblastic leukaemia | Genomic and precision medicine | Scoop.it
Review Article
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Explore the latest in genetics and genomics from JAMA Network

Explore the latest in genetics and genomics from JAMA Network | Genomic and precision medicine | Scoop.it
An online resource to help clinicians and the public understand the latest in precision medicine
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Cardiovascular Precision Medicine in the Genomics Era

Precision medicine strives to delineate disease using multiple data sources—from genomics to digital health metrics—in order to be more precise and accurate in our diagnoses, definitions, and treatments of disease subtypes. By defining disease at a deeper level, we can treat patients based on an understanding of the molecular underpinnings of their presentations, rather than grouping patients into broad categories with one-size-fits-all treatments. In this review, the authors examine how precision medicine, specifically that surrounding genetic testing and genetic therapeutics, has begun to make strides in both common and rare cardiovascular diseases in the clinic and the laboratory, and how these advances are beginning to enable us to more effectively define risk, diagnose disease, and deliver therapeutics for each individual patient.

more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Scalable and accurate deep learning with electronic health records

more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

The ACMG/AMP reputable source criteria for the interpretation of sequence variants | Genomic and precision medicine | Scoop.it
Letter to the Editor
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial | Genomic and precision medicine | Scoop.it
Original Research Article
more...
No comment yet.
Scooped by Genomeducator
Scoop.it!

Advances in liquid biopsy approaches for early detection and monitoring of cancer | Genome Medicine | Full Text

Advances in liquid biopsy approaches for early detection and monitoring of cancer | Genome Medicine | Full Text | Genomic and precision medicine | Scoop.it
Progress in sensitive analytical approaches has opened new avenues for the detection of cells or products such as circulating cell-free DNA released by tumors. These ‘liquid biopsies’ are being explored in clinical trials for early cancer detection, prediction of recurrent disease, and assessment of therapeutic resistance mechanisms.
more...
No comment yet.