Emma Freeth
@EmmaLeach_GC
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Cardiac genetic counsellor in Vancouver, BC 🇨🇦 All opinions are my own.
Vancouver, BC
Joined September 2013
February is National Heart Month and we’re back with Let’s Talk SADS Live! Join us on Feb 21st at 12PM ET/9AM PT for an exciting convo between our host @DrSanatani and @AndrewKrahnMD! Don’t miss it, tune in on Facebook, Youtube, Twitter or click the link in our bio!
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Breaking: 2023 variant classification guidelines from the expanded group of ACMG/AMP/CAP/ClinGen (per H. Rehm) will use a point system allowing for easier tiering, draft terms for VUS tiers are VUS-low, VUS-mid, VUS-high #ASHG22
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All Canadian kids should know how to save a life! Sign the petition for CPR & AED training in schools: https://t.co/e4WxwrNj1J via @CdnChange
change.org
All Canadian kids should know how to save a life
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Are you a white woman who is feeling sad about everything that's going on but unsure what you should be doing? I wrote you a guide on how to save your tears and to take meaningful action moving forward. 👉🏽
tatianamac.com
How to make meaningful change
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HiRO is sending positive thoughts to our community during this time. More information for patients and families on Inherited Heart Rhythm Conditions and COVID-19 is available here: https://t.co/qRapBACVPE
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Leaving #nsgc19, I feel so empowered by incoming pres @gillianhoo encouraging us to use experiences of loss and struggle as a tool to become better genetic counselors. Such a beautiful reframe. #weuseour♥️
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So thrilled with the strong #cardiogenetics content at #NSGC19! I learned so much and met so many amazing colleagues. Thank you! @GeneticCouns @CardioGC
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.@KylaDunn5 totally killing it debating genetic testing in unaffected relatives of sudden death - high VUS rate does harm! #NSGC19
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Beware the hype of WES for cardiac conditions! What is the value-added over commercial panels? #NSGC19 #cardiogenetics
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So excited to see 3 of 5 cardio platforms presented by GCs from Canadian centres today at #NSGC19! @CAGC_ACCG @HeartsInRhythm
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A new policy statement from @TheACMG emphasizes that the list of 59 genes in the secondary findings recommendations was not validated or intended for general population screening. Further research is encouraged: https://t.co/jXERU8O5wI
#GCchat
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The #GoldenStateKiller case opened our eyes to how law enforcement can use direct-to-consumer testing data. A recent article explores privacy and discrimination issues and loopholes in the era of direct-to-consumer genetic testing: https://t.co/JkLUoEhoP9
#GCchat
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Good article discussing post-mortem #genetics, variant interpretation, and metabolic disease in #cardiology. Such efforts are essential to the future of medicine. @CJC_JCC @joemaleszewski @EmmaLeach_GC @SCC_CCS @ACCinTouch
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Molecular autopsy with broad panel #genetictesting in NYC finds variants of unknown significance in 30-40% of cases! Important need to support families with #GeneticCounseling
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Barbara Sampson: The NYC Medical Examiner Office provides onsite #geneticcounseling for families affected by sudden unexpected death #2019FEST
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Hot off the Press: Pregnancy & Neonatal Management Guidelines for Long QT Syndrome in British Columbia https://t.co/23hO00hK6V
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AS: homo truncation mut in BRCA1. Compatible with life through alternative transcript use (hypo) but severe Fanconi anemia #ASHG16
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