@EdEsplin
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Clinical Geneticist FACMG CGAF FACP | SVP Med Affairs @Biocartis | Founder @ Stealth Startup | Med. Officer @Invitae (exit) | @UTSWMedCenter @UUtah posts own
Silicon Valley
Joined November 2018
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Ed Esplin, MD, PhD retweeted
Timely, @Thelancet on GRAIL today!
"To date, there is no evidence that any multicancer detection testing prevents cancer, consistently detects it at an earlier stage, or reduces cancer-associated mortality. Meanwhile, false-positive rates have been predictably high. The costs associated with evaluating false-positive results are very real, as are the psychological burdens borne by patients who are incorrectly told they have cancer—or incorrectly reassured that they do not."
thelancet.com/journals/lance…
In its pivotal clinical trial, the GRAIL test to detect early cancer failed its primary endpoint. It detected only 3 early cases per 1,000 people assessed. There were more false negative results (N=196) than true positives (N=133). Reviewed here erictopol.substack.com/p/the…
But you wouldn't know any of that if you read today's WSJ editorial!
gift link
wsj.com/opinion/a-grail-canc…
In vitro & in vivo studies on the impact of the #familialadenomatouspolyposis (#FAP) heterogeneous mutation MUC20-S671C on #colorectal carcinogenesis & progression
...novel S671Cv mutation in #MUC20 gene in #FAP #patients exerts its tumor-suppressive effect by reversing the EMT process...may serve as a novel prognostic #biomarker for #FAP #patients...potential #therapeutictarget...
tcr.amegroups.org/article/vi… #LiYan et al #TranslationalCancerResearch
cit. #Multiomic analysis of #FAP reveals #molecular pathways associated with #early #tumorigenesis nature.com/articles/s43018-0… @EdEsplin et al @NatureCancer
#genomic #proteomic #metabolomic #colorectalcancer #CRC #precisionmedicine #precisiontherapy #clinicaltrials #earlydetection #precisioninterception #precisionprevention @CGAIGC
Ed Esplin, MD, PhD retweeted
🚨 Amazing news from @CancerGrand @CR_UK! Two new cancer grand challenges in UPPER GI CANCERS!
cancergrandchallenges.org/ap…
cancergrandchallenges.org/ap…
Up to $34 million in awards for global teams! Apply now and spread the word.
@CharlesSwanton
Ed Esplin, MD, PhD retweeted
1/3
New in Nature Genetics: returning secondary genomic findings to cohort participants — responsibly, equitably, at scale.
The paper is based on a 2024 NHLBI-sponsored workshop on RoR and provides new directions in 4 areas:
rdcu.be/HYmbZt4zjiaa
📋 NCCN Guidelines Version 1.2027. Management/Screening: Pancreatic Cancer
🚨The key update: Negative genetic testing does not rule out pancreatic cancer screening. Family history matters.
➡️ We welcome the @NCCN inclusion of a dedicated section on screening based on family history alone.
Individuals with multiple relatives affected by pancreatic cancer may qualify for screening, even when genetic testing has not identified an inherited pathogenic variant 👨👩👧👦
📋 See the visual below👇 for the details, including 🔗 cgaigc.com/find-a-clinic
#PancreaticCancer #FamilyHistory #CancerScreening #GeneticCounseling
🤖 Made with AI
#Genetictesting...is recommended for all individuals w/ unexplained #epilepsy, regardless of age
#Germline #genetictesting changed clinical management in 49.8% of #patients w/ #epilepsy, often within three months of receiving a #genetic diagnosis
increasing #genetic diagnoses in #patients w/ epilepsy has been accompanied by a rise in #targeted #therapies...e.g. #vitaminB6 for #PyridoxineDependentepilepsy
link.springer.com/article/10… #KristaSchatz et al @NatureNeuro @SpringerNature
c/w "Genetic Testing to Inform Epilepsy Treatment Management" jamanetwork.com/journals/jam… #DianaleeMcKnight et al. @JAMANeuro
#Universal #germline #genetictesting for all #patients w/ #epilepsy
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
🌟 We received fantastic feedback from participants who joined us for Webinar 4, “From Report to Reality: Understanding Variant Summaries and Reassessing Assigned Classifications,” particularly about its value for daily clinical practice.
🧬 Haven’t had time to watch the webinar on demand? Read the blog post by CGA-IGC Communications Committee member @OphirGilad, MD, in which he shares his key insights and practical takeaways on variant summaries and classification reassessment.
📖 Read the blog post here 👉🔗cgaigc.com/post/from-report-…
▶️ Watch the webinar on demand here👉🔗cgaigc.com/webinars
#HereditaryGICancer #GeneticTesting #VariantClassification #GeneticCounseling #MedicalEducation
@josiebakerGC
📣Join CGA-IGC and the @AmCollegeGastro for an expert-led webinar with Fay Kastrinos, MD, on the evolving management of hereditary pancreatic cancer risk. 🩺
📅 Thursday, September 24
⏰ Noon ET / 9:00 am PT or 8:00 pm ET / 5:00 pm PT
This session will provide an updated overview of:
🔹 Surveillance strategies for high-risk individuals
🔹 Findings encountered during pancreatic cancer screening
🔹 Interpretation of pancreatic abnormalities
🔹 When closer follow-up or intervention should be considered
🔹 Practical, case-based approaches to risk stratification and clinical decision-making
➡️Gain valuable insights into this rapidly advancing area of hereditary GI cancer care. 🔬💡
📍CGA-IGC members, check your inbox for registration details. Not a member? Join at cgaigc.com
#HereditaryCancer #PancreaticCancer #CancerSurveillance #CancerGenetics #Gastroenterology #HereditaryGICancer #MedicalEducation
📣 Only a few hours until the #CGAIGC26 Early Bird deadline!
Register here 👉 🔗 cgaigcmeeting.org/
➡️ Add even more value to your #CGAIGC26 experience by joining us for CGA-IGC #Research Bootcamp, a special, complimentary pre-Annual Meeting workshop.
RSVP here 👉 🔗evt.to/t6jkv4srx0jg
📍 This interactive session is designed for registered Annual Meeting attendees at all stages of the research journey, from those brand new to research to those already developing or leading projects.
#HereditaryGICancer
Meta-analysis
15% of unselected #patients w/ #colorectalcancer/#CRC had PGVs on #germline #genetictesting 15·2% (95% CI 12·8–
17% of #patients w/ #EarlyOnsetCRC/#EOC had PGVs
13% of #patients w/ #LateOnsetCRC/#LOC had PGVs
...#universal #germlinetesting up to ~67 yo clinically informative...
thelancet.com/journals/langa… @AlexMannucci et al. @LancetGastroHep
c/w #Germline #Cancer Susceptibility #GeneticTesting in Unselected #Patients w/ #ColorectaAdenocarcinoma cghjournal.org/article/S1542… @PedroUson et al @AGA_CGH
#Universal #Germline #GeneticTesting in #Patients w/ #Cancer ascopubs.org/doi/full/10.120… @EdEsplin et al @JCOPO_ASCO
#Universal #Germline & Tumor #GenomicTesting Needed to Win the War Against #Cancer ascopubs.org/doi/10.1200/JCO… @VivekSubbiah @Dr_R_Kurzrock @JCO_ASCO @ASCO
#Universal #germlinetesting for all #patients w/ #CRC
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention @CGAIGC @oncodaily @OncoDailyGI
In an extension of the #INTERCEPT trial, #Universal paired #Germline #GeneticTesting (#GGT) & #ComprehensiveGenomicProfiling (#CGP) identified clinically significant findings in ≈70% of #patients w/ #colorectalcancer (#CRC), including #EarlyOnsetCRC (#EOC) & #EarlyStageCRC (#ESC)
...#universal, combined #GGT-#CGP increases clinical utility for #EOC & #ESC #patients...should be considered for all #patients w/ #CRC & may be considered for broader #patient populations.
sciencedirect.com/science/ar… @PedroUson et al. @AGA_GHAdvances @AmerGastroAssn
c/w
#Germline Cancer Susceptibility #GeneTesting in #Unselected #Patients w/ #ColorectalAdenocarcinoma cghjournal.org/article/S1542… @PedroUson et al @AGA_CGH
#Universal #Germline #GeneticTesting in #Patients w/ #Cancer ascopubs.org/doi/full/10.120… @EdEsplin et al @JCOPO_ASCO
#Universal #Germline & Tumor #GenomicTesting Needed to Win the War Against #Cancer ascopubs.org/doi/10.1200/JCO… @VivekSubbiah @Dr_R_Kurzrock @JCO_ASCO @ASCO
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention @CGAIGC @oncodaily @OncoDailyGI
In 1,013 Brazilian adults, unrelated, between 18-80 years of age, with #HeartFailure (#HF) of different etiologies & ejection fraction ≤50%, 6.5% had a pathogenic/likely pathogenic variant (PV) on #germline #genetictesting considered causal...
...#patients classified as having nongenetic etiologies, eg Chagasic & #hypertensive #cardiomyopathy, also had PVs in #cardiomyopathy genes...supporting a role for #genetictesting evaluation beyond classical cardiomyopathies.
jacc.org/doi/10.1016/j.jacad… #IsabellaLima et al @JACCJournals
c/w Assessment of the Diagnostic Yield of Combined #Cardiomyopathy & Arrhythmia #GeneticTesting jamanetwork.com/journals/jam… #LisaDellefaveCastillo et al @JAMACardio
#Universal #germlinetesting for all #patients w/ #cardiomyopathy
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
"...multicenter study of #universal #genetictesting in an #unselected #cancer #patient population demonstrated that 12.5% of #patients carry a #germline #pathogenicvariant (PV)...
...#unselected population-based analyses show that the overall prevalence of #HBOC & #LynchSyndrome (#LS) is 1.24% in the US. However...#HBOC & #LS cases are #underdiagnosed in the US, leaving substantial room for improvement in #genetictesting strategies."
jamanetwork.com/journals/jam… #DrKariRing @JAMANetworkOpen
c/w Comparison of #Universal #GeneticTesting vs #Guideline-Directed Targeted Testing for #Patients w/ #Cancer jamanetwork.com/journals/jam… @J_Samadder et al @JAMAOnc
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention @CGAIGC @OncoDailyBreast @OncoDailyGI @oncodaily
1/3 of women w/ PGV on #germlinetesting pursued increased preventive #breastcancer surveillance
~10% of women w/ PGV pursued #pancreaticcancer screening
>80% of women w/ #breastcancer & #BRCA1/#BRCA2 PGV underwent RRM
~50% of women w/ #breastcancer & non-BRCA1/2 PGVs underwent RRM
ascopubs.org/doi/pdf/10.1200… #EmilyRussell @AllisonKurian et al. @JCOPO_ASCO
#Cancerprevention intervention as indication for #universal #germline #genetictesting for all #patients w/ #breastcancer
c/w #Universal #Germline #GeneticTesting for #BreastCancer: Implementation in a Rural Practice #DrCharlesShelton et al link.springer.com/article/10… @AnnSurgOncol
#Universal #Germline #GeneticTesting for #Patients w/ #Cancer ascopubs.org/doi/full/10.120… @EdEsplin et al @JCOPO_ASCO
#Universal #Germline & Tumor #GenomicTesting Needed to Win the War Against #Cancer ascopubs.org/doi/10.1200/JCO… @VivekSubbiah @Dr_R_Kurzrock @JCO_ASCO @ASCO
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention @OncoDailyBreast @oncodaily
Ed Esplin, MD, PhD retweeted
🚨🚨🚨⭐️HUGE news & a MAJOR milestone in oncology‼️
👉🏼The FDA just approved the first targeted therapy for metastatic pancreatic cancer a breakthrough in precision oncology and a landmark step in making the BIG KRAS officially druggable ( beyond KRAS K12C) ❗️
$RVMD
👉🏼A new era in the fields battle against a devastating Emperor of all maladies. #precisionmedicine #KRAS
@OncoAlert @oncodaily @DavidHongMD @Aiims1742 @DrShubhamPant @GIcancerDoc @EileenMOReilly
fda.gov/news-events/press-an…
Ed Esplin, MD, PhD retweeted
Amazing news today, culmination of years of research & clinical trials in #PancreaticCancer.
The @RevMedicines approval for Rasonque (Daraxonrasib) will open many doors, including other inhibitors in this space & combinations. @OncoAlert @KRASKickers
fda.gov/news-events/press-an…
🧬 Heading to the 2026 CGA-IGC Annual Meeting in Denver this November?
🔬Why not start your meeting experience at the CGA-IGC Research Bootcamp?
Add even more value to your CGA-IGC 2026 Annual Meeting experience with this complimentary, interactive pre-meeting workshop.
📅 Sunday, November 1, 2026
⏰ 12:00–1:45 PM MT
📍 2026 CGA-IGC Annual Meeting - Denver, CO
✅️ Register 👉🔗addevent.com/event/t6jkv4srx…
💡Whether you are new to research, developing your first project, or already leading studies, this session will provide practical guidance to help move your research forward.
➡️ The workshop is complimentary for registered CGA-IGC Annual Meeting attendees, but space is limited to 50 individuals - secure your spot today!
#CGAIGC26 #HereditaryGICancer #ClinicalResearch #MedicalEducation
