Ed Esplin, MD, PhD @EdEsplin
Clinical Geneticist, MD, PhD, FACMG, CGAF, FACP @ Invitae posts my own Invitae Joined November 2018-
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32% of #patients w/ a #congenitalheartdefect & a #genetictesting positive result, would have been missed had ExtraCardiacAnomaly-positive status been strictly used to complete #genetictesting...this analysis supports [#universal] #genetictesting in all #CHD infants...(h/t…
📢It's #PatientExperienceWeek ‼️ 👂to Podcast 2⃣ "Decisional regret post-prophylactic #gastrectomy for #Hereditary Diffuse #GastricCancer," feat. @JeremyLDavisMD & @josiebakerGC 🎙️👉tinyurl.com/yckn2be7 👀the📜by our Comms Cttee member @nbartellmd 👉tinyurl.com/2xx5vsv2
Real-World Breast Surgery Utilization among #BreastCancer #patients with #GermlineTesting VUS - 9K #patients, breast surgical procedure uptake by #patients w/ VUS vs Negative results NOT signficantly different... VUS results do not appear to prompt guideline-discordant…
As we end #NationalMinorityCancerAwareness & #NationalDiversityMonth a 📢to #closethecaregap‼️ 🔗👇 on how we have committed to this cause in #HereditaryGICancer #worldcancerday @uicc cgaigc.com/post/worldcanc…
Negative [#genetictesting] results can positively impact your health. 'It’s no secret that a negative result can be a relief, but it can also serve as vital information that guides your care, according to a study [@Invitae] that reported #genetictesting positively impacted…
#NationalMinorityHealthMonth 'Recent study @Invitae revealed that #machinelearning clarified >20% of #genetictesting VUS for #patients w/#breastcancer, particularly benefiting underrepresented populations.' 'The @ASBrS recently established new guidelines recommending…
Latest from #eMERGENetwork @genome_gov, @Invitae privileged to collaborate #NationalMinorityHealthMonth
Latest from #eMERGENetwork @genome_gov, @Invitae privileged to collaborate #NationalMinorityHealthMonth
1/Welcome to March 2024 #CGAIGCJS Tweetorial on “Province-Wide Ascertainment of #LynchSyndrome in Manitoba” by CGA-IGC communications committee member @MLaszkowskaMD Full article in @AGA_CGH at tinyurl.com/4m6k4vm8 🧵 @coloncanada #GITwitter #GeneChat
📢 #NationalDiversityMonth current MGPT may not be rep of early-onset #CRC risk in diverse populations ➡️Prevalence of #lynchsyndrome and specific 🧬 #variants differed significantly by race/ethnicity #HereditaryGICancer🔗👉tinyurl.com/2x9efb92 @LGtheCGC @SanjeevaniArora
👏to our amazingly💪partner‼️ Take a moment to 🤔how YOU can🥊for #HealthEquity as #cancer incidence & mortality are🚫= across different race/ethnic groups #hereditaryGIcancer #NationalMinorityCancerAwareness @LGtheCGC @MSpringerGC @meghar111 @asaf_maoz @EdEsplin @AlexMannucci
👏to our amazingly💪partner‼️ Take a moment to 🤔how YOU can🥊for #HealthEquity as #cancer incidence & mortality are🚫= across different race/ethnic groups #hereditaryGIcancer #NationalMinorityCancerAwareness @LGtheCGC @MSpringerGC @meghar111 @asaf_maoz @EdEsplin @AlexMannucci
It doesn’t get more personal than our DNA! Today is #DNADay & we're grateful to #MarkAHicks for creating this wonderful image for us! If you have a #HereditaryGICancer syndrome in the family #DNADay is the day to share your story! Learn more 👇
16% of #lungcancer #patients, w/no prior #cancer or #familyhistory of #cancer, had PGVs on #germlinetesting "...it may be of interest to routinely examine all #patients w/ #lungcancer for...PGVs [pathogenic germline variants] in #cancer-risk genes, benefiting #patients & their…
@EdEsplin @ClinicalLung Good study Ed. Is there a way IHC for MMR genes can be done in the Lung tumors? Wonder how many could be Lynch driven!
'...we are likely underestimating the prevalence of the inherited risk for #lungcancer. Utilization of #universal #germlinetesting can increase the detection of clinically actionable #germline variants over the guideline-based approach.' @ClinicalLung clinical-lung-cancer.com/article/S1525-… c/w…
📢Miss our April 11🧑🏻💻? As a #CGAIGC member you can watch this & other🧑🏻💻on demand. #GeneticCounselors they're a👍way to earn ↗️#CEUs‼️ Many other👫🏻benefits - learn what they are👉tinyurl.com/3zyucxvw Membership is a huge➕must if working in the #HereditaryGICancer field
📢What happens every 2 months on the third Thursday of the month? #HereditaryLive‼️ ➡️Join us TODAY at 6pm ET / 3pm PT for another exciting session with int'l #HereditaryGICancer experts ⏩Add the date to your calendar👉evt.to/asoidgasw & get the details to join today‼️
We're thrilled to be a part of the #HereditaryGICancer community on X‼️ 🙏to our fabulous cttee members for their hard work in producing content that allows us to be a resource &🙏to all who share our content. Special🙏to our Comms Cttee for their💪work‼️ #MyXAnniversary
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Branched chemically modified poly(A) tails enhance the translation capacity of mRNA | Nature Biotechnology nature.com/articles/s4158…
Does the use of popmax reduce variant misclassification in underrepresented populations? Evaluation in a cohort of patients with familial CRC from Singapore and the U.S. bit.ly/44ia512 #DEI #Genomics #PopulationGenetics
What is the diagnostic yield of universal genetic testing in infants with congenital heart defects admitted to the ICU? @Bmhelm and coauthors write in @Genes_MDPI mdpi.com/2073-4425/15/4…
Huge congrats to @PBarataMD & team for this very important piece in @JAMAOnc. The message? We can do better with HRR testing in #prostatecancer. I often discuss this w @neerajaiims @TDorffOnc & other trialists who are leading efforts in this space - without earlier testing, we…
🔥 📰 Hot of the press: sharing our work on HRR testing for prostate cancer using US database. Most mCRPC still don't get HRR testing. +pts being tested earlier. Race, age, insurance, low socioecon st, outside academia⏩ low testing @neerajaiims @montypal @DrRanaMcKay @CParkMD
Congratulations to @PBarataMD et al for this very important piece in @JAMAOnc. HRR testing in #prostatecancer is a must ! @OncoAlert @UHhospitals
🔥 📰 Hot of the press: sharing our work on HRR testing for prostate cancer using US database. Most mCRPC still don't get HRR testing. +pts being tested earlier. Race, age, insurance, low socioecon st, outside academia⏩ low testing @neerajaiims @montypal @DrRanaMcKay @CParkMD
Don’t miss our podium presentation at #AUA24, presented by Michael Serzan, MD, FACS, on Monday, May 6, from 9:30-11:30 am CT, room 303A. He will share key data that support #GeneticTesting for #RenalCancer patients.
New #EditorsChoice: The underrepresentation of many population groups in large population reference databases can lead to misclassification of rare, ancestry-specific variants, which can lead to costly false diagnoses bit.ly/3sW2eId
Does the use of popmax reduce variant misclassification in underrepresented populations? Evaluation in a cohort of patients with familial CRC from Singapore and the U.S. bit.ly/44ia512 #DEI #Genomics #PopulationGenetics
🔥 📰 Hot of the press: sharing our work on HRR testing for prostate cancer using US database. Most mCRPC still don't get HRR testing. +pts being tested earlier. Race, age, insurance, low socioecon st, outside academia⏩ low testing @neerajaiims @montypal @DrRanaMcKay @CParkMD
May is Asian American Native Hawaiian Pacific Islander (AANHPI) Month. ABMGG celebrates our AANHPI diplomates and beyond who contribute to genetics and genomics. Check out @theNAMedicine's feature on AANHPI pioneers in medicine here: bit.ly/3USPvkZ #AANHPIHeritageMonth
$NVTAQ $NVTA $LH bankrupt or not, I like companies with a mission ✔️ btw Is @Invitae gonna be absorbed under @Labcorp label, if the sale is approved? Labcorp press releases suggest so.
Real-World Breast Surgery Utilization among #BreastCancer #patients with #GermlineTesting VUS - 9K #patients, breast surgical procedure uptake by #patients w/ VUS vs Negative results NOT signficantly different... VUS results do not appear to prompt guideline-discordant…
How interesting. The type of research needed on people with VUS results.
Real-World Breast Surgery Utilization among #BreastCancer #patients with #GermlineTesting VUS - 9K #patients, breast surgical procedure uptake by #patients w/ VUS vs Negative results NOT signficantly different... VUS results do not appear to prompt guideline-discordant…
📢It's #PatientExperienceWeek ‼️ 👂to Podcast 2⃣ "Decisional regret post-prophylactic #gastrectomy for #Hereditary Diffuse #GastricCancer," feat. @JeremyLDavisMD & @josiebakerGC 🎙️👉tinyurl.com/yckn2be7 👀the📜by our Comms Cttee member @nbartellmd 👉tinyurl.com/2xx5vsv2
Our findings suggest that offering combined genomic screening for high-risk conditions to young adults would be cost-effective in the Australian public healthcare system at currently realistic testing costs. Read here: genomes2people.org/wp-content/upl…
As we end #NationalMinorityCancerAwareness & #NationalDiversityMonth a 📢to #closethecaregap‼️ 🔗👇 on how we have committed to this cause in #HereditaryGICancer #worldcancerday @uicc cgaigc.com/post/worldcanc…
Perspective: The Myth of the Free Market for Pharmaceuticals nej.md/3xF4OVe #HealthPolicy
Whoa… @Walmart will close all of its health care clinics… buff.ly/3QnYgkd
propublica.org/article/cigna-… ProPublica has done it again. These terrifying glimpses inside health insurance corporations are so important. People need to understand what we're up against. These corporations don't care about you. @Cigna
propublica.org/article/cigna-… ProPublica has done it again. These terrifying glimpses inside health insurance corporations are so important. People need to understand what we're up against. These corporations don't care about you. @Cigna