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Gene therapy with AAV5-hFVIII-SQ vector in participants with hemophilia A resulted in sustained, clinically relevant benefit. nej.md/2Fcr2PA

In a population-based study, women w/breast cancer & BRCA/other gene mutations are more likely to receive bilateral mastectomy, less likely to receive radiotherapy after lumpectomy & more likely to receive chemotherapy for early-stage disease. Via JAMA Oncology jamanetwork.com/journals/jamao…

"For most people, there’s a large gap between access to at-home genetic tests and access to genetic counseling... finding someone to help interpret those results can be expensive." @DorothyPWrites in STAT on the emerging need for genetic counselors. statnews.com/2020/02/07/gen…

Can blood RNA analysis increase diagnostic rate and resolution of variants of unknown significance? Promising new findings via Genetics in Medicine nature.com/articles/s4143…

Moving pediatric congenital heart defect diagnostic testing into the 21st century: Genome sequencing is a promising first-tier diagnostic test for these children go.nature.com/3aHecGZ #HeartDisease #genomics #pediatricresearch #CHD

To help patients and providers, Michael Fralick and I have compiled a list of #COVID19 Assessment Centres in the GTA (with hours, locations and other details) that we are continuing to update. Please RT so more people can get access to this live document! docs.google.com/document/d/1ae…

For people with some underlying genetic conditions such as primary immunodeficiency diseases and cystic fibrosis, #COVID19 presents a formidable threat. Via STAT statnews.com/2020/03/23/for…

New Sounding Board, "Allocating Scarce Medical Resources for Covid-19," now online. #COVID19 #SARSCoV2

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines. Via Genetics in Medicine nature.com/articles/s4143…

#CarrierScreening based on ethnicity misses many carriers in part because our self-assessment of ethnicity is often inaccurate go.nature.com/2CZ0ofX.

Could genome sequencing become a first tier test for children with unexplained medical complexity? New JAMA Network Open promising results. jamanetwork.com/journals/jaman…

October #FeatureArticle: Genetic ancestry analysis on >93,000 individuals undergoing expanded #carrierscreening reveals limitations of ethnicity-based medical guidelines go.nature.com/2CZ0ofX #Genetics #Genomics #inclusion #equity #Diversity

1) Paper on the yield of germline sequencing after tumor sequencing. 11% of patients had germline findings identified only AFTER they developed a 2nd cancer that possibly could have been detected. 20% did not meet criteria. Allison Kurian bit.ly/3iWSnHh JAMA

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study ow.ly/K3PD50BDFjc #genomics #genomesequencing #medicalgenetics #exomesequencing #WES #NGS

Amazing talk from Amanda Pichini about work on establishing a competency framework for genomics! Really valuable as we move to large-scale adoption!! #CAGC20 #GCchat

#EditorsChoice. No surprise: Clinicians are “cheating the system” to access genome sequencing using burdensome workarounds that drive inequity and can undermine patient care gimjournal.org/editors-choice #ClinicalUtility #GenomicSequencing #HealthPolicy #HealthServices

A chasm between practice and policy. Providers across Canada feel like they have to “cheat the system” to access exome/genome sequencing using burdensome workarounds, which drive inequities and jeopardize patient care. sciencedirect.com/science/articl…

New research led by Drs. Dr. Yvonne Bombard & Salma Shickh (Salma Shickh) highlights a disconnect between cancer patient preferences & professional guidelines on secondary findings from genomic sequencing. Learn about the factors driving patients' preferences: link.springer.com/article/10.100…

"Please re-contact us every few years as we may have updates for you" are words commonly stated to genetics patients by their providers. Commentary by Michael Mackley and Dr. Lauren Chad @sickkidsnews explores the equity implications of this approach. nature.com/articles/s4143…