
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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1/ Welcome to the #CGAIGCJC Tweetorial on “Shared inheritance reveals landscape of somatic and germline cancer risk in TP53” MacGregor et al, by our Communications Committee member @annalstrang
➡️Published in American Journal of Human Genetics 👉pubmed.ncbi.nlm.nih.gov/4260…
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#HereditaryGICancer
"#Universal #Germline #GeneticTesting after a Diagnosis of #Cancer"
oncodaily.com/science/ed-esp… @oncodaily
#Germline #genetictesting in #patients w/ #cancer informs treatment, surveillance, prevention... nevertheless uptake of #genetictesting remains low...
Study evaluated timeliness of POC (no pretest counseling) #universal #germlinetesting in #patients w/ advanced #cancer
-time to #genetictest results in the SOC group was 87 days
-time to #genetictest results in the #POC trial population was 45 days
...study demonstrates effectiveness of universal POC #germlinetesting for #patients w/ advanced #Cancer
cit. "#Universal #Germline #GeneticTesting in #Patients w/ Solid Tumor #Cancer" ascopubs.org/doi/full/10.120… @EdEsplin et al @JCOPO_ASCO @ASCO
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
link.springer.com/article/10… #KaraLandry et al. #HereditaryCancerinClinicalPractice @SpringerNature
How can hereditary cancer care become more accessible, inclusive, and responsive to the needs of different patient populations?
At #CGAIGC26, Session VIII: Care Delivery will bring together experts to explore approaches to improving access to genetic services, from supporting patients with neurodivergence to adapting care in resource-limited settings and advancing genetic counseling and testing in Chile.
Meet the speakers who will share their insights on making hereditary cancer care more equitable and accessible:
Melissa Levin: bit.ly/4yC4W1g
Alanna Horowitz: bit.ly/4i0do5w
Dr. Steven Schuetz: bit.ly/4zNAouG
María José Mullins: bit.ly/4yMrEnK
📅 Wednesday, November 4 | 9:00–10:30 AM
Join the conversation in Denver!
How can we bridge the gap between advances in cancer genetics and their implementation in everyday clinical practice?
At #CGAIGC26, we're pleased to welcome Dr. Deborah Cragun as this year's Anne Krush Lecturer!
A leading researcher in hereditary cancer and genomic medicine, Dr. Cragun will present “The Science of Doing: Implementation Strategies for Cancer Genetics,” exploring approaches to integrating evidence-based genetic and genomic services into routine healthcare.
📅 Wednesday, November 4 | 8:15–9:00 AM
🔗 Learn more about Dr. Cragun ahead of the meeting: bit.ly/4si4pAc
From expanding access to genetic testing to navigating complex variant classifications, advances in genetic diagnostics continue to shape hereditary cancer care.
At #CGAIGC26, Maureen Mork, Dr. Danny Miller, Kara Semotiuk, Dr. George Charames, and Dr. Aaron Pollett will explore novel approaches to cascade testing, the potential of RNA analysis and long-read sequencing, and the clinical challenges of caring for patients with discrepant variant classifications.
📅 November 3 | 3:20–4:50 PM
🔗 Learn more about our speakers and their expertise:
Maureen Mork: bit.ly/4zDRpHn
Dr. Danny Miller: bit.ly/4B8FbIq
Kara Semotiuk: bit.ly/4zGhUMv
Dr. George Charames: bit.ly/4zIDYpU
Dr. Aaron Pollett: bit.ly/47qoXwO
Ed Esplin, MD, PhD retweeted
The findings challenge prevailing assumptions about DCM genetics and highlight the importance of diverse populations in genomic research.
CD36 is not included on standard cardiomyopathy genetic testing panels.
We look forward to its imminent inclusion @CleClinicHVTI.
Access to hereditary cancer genetic testing and precision medicine is not equal for everyone. Addressing these disparities is essential to making cancer prevention and care more equitable.
At #CGAIGC26, Dr. Emily Mrig, Andrea Stoddard, Katherine Bonini, and Paula Chambers Raney will bring perspectives from research, clinical practice, genomics, and patient advocacy to Session V: Health Equity.
Together, they'll explore barriers to cancer genetics services, strategies for expanding access to genetic testing, the role of emerging genomic technologies in health equity, and the importance of patient voices in improving cancer care.
📅 November 3 | 10:50 AM–12:10 PM
🔗 Meet the experts and advocates leading this discussion:
Dr. Emily Mrig: bit.ly/4BgSDKr
Katherine Bonini: bit.ly/4yyrJuW
Paula Chambers: bit.ly/4i6cR0x
Next in our #CGAIGC26 invited speaker spotlight is Dr. Wendy Chung, who will deliver this year's Bert Vogelstein Lecture on November 3! 🎤
What happens when insights from genetic testing become actionable information for patients and their families?
In her lecture, Dr. Chung will explore the role of genomic information in understanding health risks and informing clinical care.
A renowned clinical and molecular geneticist, Dr. Chung has identified the genetic basis of more than 60 rare diseases and leads research aimed at advancing genetic screening and personalized medicine.
🔗 Get to know Dr. Chung ahead of the meeting: bit.ly/4sboUOP
Cancer risk is shaped by more than genetics alone. Understanding how inherited predisposition, lifestyle factors, and clinical decision-making intersect is essential to advancing cancer prevention and care.
At #CGAIGC26, Dr. Tuya Pal, Dr. Neil Iyengar, and Dr. Bryson Katona will explore the hereditary cancer risk continuum, from the influence of diet, exercise, and lifestyle on cancer risk to the complexities of managing reduced-risk pathogenic variants.
📅 November 3 | 8:15–9:45 AM
🔗 Get to know our speakers ahead of the meeting:
Dr. Tuya Pal: bit.ly/4zv8ymz
Dr. Neil Iyengar: bit.ly/4B3u1oh
Dr. Bryson Katona: bit.ly/4e90lMI
🎙️ Our new APP podcast is here!
Hear Heather Hannon, Carrie Thompson & Margaret Hornung explore career pathways, teamwork & hereditary cancer care.
🎧👉🔗cgaigc.com/podcast/episode/f…
🏔️ Continue the conversation at #CGAIGC26 in Denver, CO on Nov 2, 3:40 PM MT with the “How We Do It” presentation on "Defining, Expanding, Adapting Advanced Practice Provider Roles in Hereditary Cancer Care: Models, Challenges, and Real-World Practice."
📍👉🔗Visit cgaigcmeeting.org/
🗓️Episode 2 arrives in November during National Nurse Practitioners Week, exploring APPs in practice and the future of hereditary GI cancer care. Stay tuned!
@josiebakerGC
#HereditaryGICancer
From the genetic mechanisms behind cancer to emerging treatments and evolving models of care, Session III: Oncology at #CGAIGC26 brings together diverse perspectives on hereditary cancer research and clinical practice.
Join Dr. Bruce Boman, Dr. S. Lindsey Davis, and a panel of Advanced Practice Providers as they explore cancer development, novel therapies for pancreatic cancer, and practical approaches to expanding APP roles in hereditary cancer care.
📅 November 2 | 3:40–5:10 PM
🔗 Get to know Dr. Bruce Boman: bit.ly/4hMmmDs
🔗 Explore the full scientific program: bit.ly/3TZtxPj
Protein phosphatase 2A (#PP2A) regulates oncogenic signaling...Its dysregulation contributes to cancer and creates opportunities for #PP2A-directed therapies inc.therapeutic #PP2A activation & transient inhibition.
cit. "Alterations of the #PPP2R1B Gene in Human #Lung & #ColonCancer" science.org/doi/10.1126/scie… @ScienceMagazine
#access #reducedisparities #genetics #genomics #CRC #lungcancer #precisionmedicine #precisiontherapy #clinicaltrials
frontiersin.org/journals/cel… #MargaritaChigriai et al @FrontCellDevBio @FrontiersIn
From personalized cancer risk assessment to advances in surveillance and prevention, Lynch syndrome care continues to evolve.
At #CGAIGC26, Dr. Fay Kastrinos, Dr. Jerome Graber, and Dr. Jaime Arruda will explore important developments in Lynch syndrome care, including individualized risk assessment, brain cancer surveillance, and hormone replacement therapy and cognitive health.
The session will also feature a How We Do It presentation with Andrea Dwyer and Dr. Peter Stanich, sharing the advocacy and collaborative efforts behind establishing a dedicated ICD-10 code for Lynch syndrome.
📅 November 2 | 10:15 AM–12:15 PM
🔗 Get to know our speakers ahead of the meeting:
Dr. Fay Kastrinos: bit.ly/4yPJdUL
Dr. Jerome Graber: bit.ly/4rZJUrG
Dr. Jaime Arruda: bit.ly/4s0vLuq
Thanks to @AmbryGenetics we’re delighted to share more Spanish-language educational content during #HispanicHeritageMonth!
Explore our latest translated resources:
🎙️ LGBTQIA+ Care – the GC and MD Perspective 👉🔗youtu.be/5XTZRuwy1s0
💻 CDH1 Across Disciplines: Pathology, Surveillance, and Surgery
Available to CGA-IGC members 👉🔗 caigc.com/webinars
🤝Share these resources with colleagues across Latin America and Spanish-speaking colleagues everywhere.
📚 Missed our earlier translated webinars and podcasts?
Webinar 1 is open access youtube.com/watch?v=J3uk48pJ… and members can find all other translated webinars from 2025 and 2026 in our member portal. Login here 👉 🔗 cgaigc.com/webinars
⁉️ If you missed the blog "Latin American Genetic Counseling and Hereditary Cancer Resources," by our Communication Committee member, Chandrika Kurpad, MS, LCGC, read it HERE 👉 🔗 cgaigc.com/post/connecting-t…
#HereditaryGICancer #HereditaryCancer
@yvonnerms @josiebakerGC
🌎 This #HispanicHeritageMonth, discover organizations offering genetic counseling & hereditary cancer resources across Latin America.
Explore hereditary cancer resources from @SplaGen , @geth_org & SOCHIAGO across Latin America.
👏 Thanks, @ckurpad for this excellent blog highlighting these organizations & encouraging connections across borders.
📖 Read the blog: 👉🔗cgaigc.com/post/connecting-t…
📌 New Spanish-language content arrives tomorrow!
#HereditaryGICancer #HereditaryCancer
Ed Esplin, MD, PhD retweeted
Now online in @CD_AACR: Universal Germline Genetic Testing after a Diagnosis of Cancer - by @StadlerZsofia, @ldiaz1971, and colleagues @MSKCancerCenter
Now online: Universal Germline Genetic Testing after a Diagnosis of Cancer doi.org/10.1158/2159-8290.CD…
Ed Esplin, MD, PhD retweeted
🚨⭐️Yes! Universal Germline and Tumor Genomic Testing Needed to Win the War Against Cancer: Genomics Is the Diagnosis.
👉🏼We wrote about this in 2016 & 2023! @Dr_R_Kurzrock
👉🏼Now @CD_AACR has published a study that shows why we need this @ElizSMcKenna
👉🏼AGAIN 👉🏼 Genomics Is the Diagnosis.
Link @JAMAOnc @JAMA_current
jamanetwork.com/journals/jam…
Link @JCO_ASCO @ASCO
ascopubs.org/doi/10.1200/JCO… @OncoAlert @oncodaily
Now online in @CD_AACR: Universal Germline Genetic Testing after a Diagnosis of Cancer - by @StadlerZsofia, @ldiaz1971, and colleagues @MSKCancerCenter
~1/6 #patients across 32 cancer types had #pathogenicgermlinevariants (PGVs) on #germlinetesting (inc #prostate #lung #kidney #sarcoma etc)
72% of #patients w/ a PV would have been missed by a strict age cutoff of <50yrs as rec'd by many guidelines (@NCCN)
"...clinically actionable #germline findings...have important implications for #treatment, #surveillance, & #cascadetesting"
These data support, "...#universal #germline #genetictesting for all individuals diagnosed w/ #cancer..."
c/w
"Comparison of #Universal #GeneticTesting vs #Guideline-Directed Targeted Testing for #Patients W/ #HereditaryCancerSyndrome" jamanetwork.com/journals/jam… @J_Samadder et al @JAMAOnc
"#Universal #Germline #GeneticTesting in #Patients w/ Solid Tumor #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 #clincaltrials #precisionprevention
aacrjournals.org/cancerdisco… @StadlerZsofia #DrMarkRobson @abbassmohd et al @CD_AACR @CGAIGC @oncodaily
Some of the most challenging questions in hereditary GI cancer care don't always have clear-cut answers.
At #CGAIGC26, Dr. Peter Stanich and Dr. Zack Foda will go head-to-head in our returning Debate Session, “Oligopolyposis: Debating the Gray Zone,” exploring the complexities of clinical decision-making in this area.
The session will also feature Dr. Giulia Martina Cavestro, who will share key outcomes from the Florence International Consensus on Idiopathic Adenomatous Polyposis (IAP) and their implications for clinical practice.
📅 November 2 | 9:00–9:55 AM
🔗 Get to know our speakers ahead of the meeting:
Dr. Peter Stanich: bit.ly/4eiz5v9
Dr. Zack Foda: bit.ly/4AVm8RI
Dr. Giulia Martina Cavestro: bit.ly/4hDMIaH











































