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genetic testing

Ireland Outlines National Strategy to Streamline Access to Genomic Medicine
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The new strategy coincides with the launch of Genomics Data Infrastructure Ireland, a separate project for Irish genomic and clinical data.

Unilabs, Ambry Genetics Partner to Market Research-Use Genomic Testing Services Internationally

The companies aim to offer genetic testing for biopharma and government-sponsored research in Europe, Latin America, and the Middle East.

Invitae Aims for Transparency With Newly Issued Patient Data Use Report
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Invitae revealed that it uses patient data for quality control and VUS resolution, with a Data Use Committee vetting all external academic and industry requests.

Polygenic Risk Score Shows Potential in Personalizing Chemotherapy for Pediatric AML Patients
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At ASH's annual meeting, researchers reported that patients with low scores on a 10-SNP test fared better when they got clofarabine plus the standard 7+3 course of chemo.

Analysis of CMS Data Raises Alarm on Potential Genetic Testing Fraud
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High payment rates for tests for rare disorders in regions covered by two Medicare Administrative Contractors could spark debate about genetic testing fraud.

Dec 7, 2022

Invitae, OptraHealth Resolve Chatbot Patent Dispute

Dec 6, 2022

Plain-Language Genomic Test Reports Help Families Understand Results
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Nov 19, 2022

Parent-Initiated Genetic Testing of Newborns Yields Clinical Diagnoses, Fulgent Team Finds 

Oct 5, 2022

Genomic Test IDs Pancreatic Cysts Likely to Progress to Cancer Better Than Standard Guidelines
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Sep 30, 2022

UPenn Effort Organizes, Integrates Genetic Testing Results in Electronic Health Records
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Sep 22, 2022

Universal Genetic Testing in Breast Cancer Further Supported in New Invitae-Led Study

Sep 22, 2022

Cowen Initiates Coverage of 23andMe With Outperform Rating

Aug 30, 2022

MedGenome Raises $50M

Aug 11, 2022

Expanded Genetic Testing Leads to Additional Cardiomyopathy, Arrhythmia Diagnoses

Aug 9, 2022

Genome Medical, Hereditary Neuropathy Foundation Partner for Charcot-Marie-Tooth Disease Testing

Aug 4, 2022

Geisinger Researchers Win $7M for Familial Hypercholesterolemia Studies With Genetic Testing
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Jul 26, 2022

Genetic Testing Should Be Guided by Patients' Best Interests, ACP Position Paper Says

Jul 14, 2022

Genetic Counseling Likely to Become More 'Complicated' in Wake of Roe Repeal 
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Jul 12, 2022

NCCN Publishes First Guidelines for Pediatric Brain Cancer, Recommends Broad NGS Profiling

Jul 6, 2022

RetinalGenix Technologies Acquires DNA/GPS

Jun 30, 2022

PreventionGenetics Nabs FDA Approval for Obesity Drug Companion Diagnostic

May 31, 2022

Nalagenetics Gets CE Mark for PGx Software Module

May 27, 2022

Canadian Healthcare Providers, Policymakers Value Different Aspects of Clinical Genomic Sequencing

May 23, 2022

OptraHealth Sues Invitae for Infringement of AI-Based Chatbot Patent

May 10, 2022

ACMG Issues Updated Practice Guidelines for Hearing Loss Evaluations

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The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.