Talks — ACMG 2026

The primary artifact of this vault: one Markdown file per talk. ACMG 2026 is a hybrid clinical-lab meeting — some talks are clinical case readouts, some are cohort / cohort-classification readouts, some are standards-document updates (ACMG/AMP, ClinGen VCEPs), some are AI/ML methods talks, some are TED-style perspectives, and the named-award lectures are their own slot type. The per-talk schema accommodates all of these with one Anchor field.

Status: Template + master index, populated retrospectively. Stubs are pulled from the ACMG 2026 meeting site, pre-meeting press release, and the ACMG Foundation award announcement; entries tagged *per pre-meeting press, GIM abstract supplement pending* will be reconciled with DOIs and full abstract text once the Genetics in Medicine abstract supplement publishes (typically ~April–May post-meeting) and the ACMG Digital Edition on-demand recordings are accessible (~April–May 2026, partially live now).

Per-talk template

Each talk file (e.g., rimoin-2026-carey.md, nifs-symposium.md, llm-acmg-amp-classification.md) follows this schema. Copy and fill:

# <Talk title — short>

> **Session:** <session name, date, time ET, room> · **Track:** <track / theme> · **Abstract:** <GIM abstract # or platform/poster #>

## At a glance

- **Speaker:** <name, degrees (MD, PhD, MS, FACMG, CGC, etc.)>
- **Affiliation:** <institution, department, clinical lab>
- **Day / session / track:** <Wed Mar 11 / Platform 1 / Hereditary Cancer and Adult Genetics>
- **Talk title:** <full title as in program>
- **Anchor type:** <clinical-lab cohort / case readout | standards / guideline update | tool / pipeline / ML method | award lecture | TED-style / perspective | symposium discussion>
- **Anchor:** <cohort name + size + lab | guideline document + version + GIM DOI | tool name + GitHub/PyPI | manuscript citation + DOI>
- **Co-authors / consortium:** <if applicable — e.g., ClinGen VCEP, UDN, AoU, CSER, eMERGE>
- **Preprint / paper:** <bioRxiv / medRxiv / GIM / GIM Open / NEJM / AJHG DOI, if accompanying>

## Key result

<One paragraph. Numbers + cohort size + diagnostic yield / classification-change rate / effect
size if known. For retrospective stubs, mark `*per pre-meeting press`*` or
`*per session description, GIM abstract supplement pending*` if not yet reconciled.>

## Methods / approach

<2–4 sentences. What clinical cohort, what assay, what classification framework
(ACMG/AMP 2015 + which evidence-code recalibrations), what comparator. For tool
talks: what it consumes / produces, key methodological idea, integration with
lab LIMS / variant-curation workflow. For standards-update talks: scope, what
changed vs prior version, implementation timeline.>

## Why it matters for the corpus

<1–2 sentences. The cancer-genomics / clinical-trials / methods relevance specifically
— does it inform hereditary-cancer panel design, ACMG/AMP variant classification
for cancer variants, CHIP / mosaicism detection in cancer testing, AI / LLM
validation in clinical labs, or methods used in AACR / ASCO / ASH downstream?>

## Cross-links to corpus

- **AACR 2026:** <related session / poster, if applicable>
- **ASCO 2026:** <trial that uses the testing framework / cohort / panel>
- **ASH 2026:** <CHIP / MN-predisposition / germline-MN tie-in>
- **ASHG 2026:** <methods-paper sibling talk later in the year>
- **ISMB 2026 / RECOMB 2026:** <upstream variant-effect-predictor or LLM methods talk>
- **AGBT 2026:** <upstream platform if this talk applies a new sequencing modality>
- **ESHG 2026:** <European sibling talk if same investigator / cohort>
- **Other ACMG 2026 talks:** <session-mates, same-cohort, same-method>

## Sources

- GIM abstract: <DOI / URL or "pending supplement publication">
- Preprint / paper: <bioRxiv / medRxiv / journal DOI>
- Lab / institutional page: <URL>
- Recording (post-meeting): <ACMG Digital Edition URL>
- Trade-press recap: <GenomeWeb / 360Dx URL>
- Sponsor release (if applicable): <vendor press URL>

Master talk index

The shortlist below is pulled retrospectively from the ACMG 2026 meeting site and pre-meeting press. Stubs prioritize the cancer-genetics-relevant subset of the program (hereditary cancer, ACMG Secondary Findings cancer subset, CHIP / mosaicism in cancer testing, germline-somatic integration) plus the load-bearing standards / AI-in-clinical-genomics talks that we'd want to cite from cancer-talks downstream. Reconciliation with the GIM abstract supplement is pending.

Talk	Speaker	Affiliation	Day	Track	Anchor type	Anchor	Cancer-genomics relevance
David L. Rimoin Lifetime Achievement Award Lecture	John C. Carey, MD, MPH, FACMG, FAAP	University of Utah (Emeritus)	Wed Mar 11 — Presidential Plenary	Award	award lecture	career retrospective in clinical genetics, dysmorphology, trisomy 13/18 advocacy	Indirect — clinical-genetics framing of cancer-predisposition syndromes
Presidential Plenary: The Future of Expanded Newborn Genomic Screening	Presidential Plenary panel	Multiple	Wed Mar 11 — Presidential Plenary	Society / Plenary	symposium discussion	NBS expansion to genomic sequencing — BabySeq, GUARDIAN, NBSeq, EarlyCheck	Core — pediatric cancer-predisposition reporting from newborn WGS is the cancer-relevant axis
Non-Invasive Fetal Sequencing (NIFS) Is Coming: Are You Ready?	symposium panel	Multiple (incl. Natera, Illumina, academic prenatal centers)	TBD	Prenatal / Reproductive	symposium discussion	NIFS clinical-readiness debate	Indirect — fetal cancer-predisposition variant detection is a downstream question
Clonal Hematopoiesis, Somatic and Post-Zygotic Mosaicism in Multigene Cancer Testing for Geneticists	symposium panel	Multiple (incl. Bick-aligned, Natarajan-aligned, clinical-lab CHIP working groups)	TBD	Cancer Genetics	symposium discussion	CHIP / mosaicism findings in multigene panel testing — incidental finding handling	Core — clinical-lab translation of population-CHIP work; bridge to ASH MDS/AML
Beyond The List — Scope and Implementation of ACMG Secondary Findings	ACMG SF Working Group	ACMG SF WG	TBD	Standards / Policy	standards / guideline update	ACMG SF v3.3 implementation + future expansion debate	Core — cancer-predisposition genes dominate the SF list (TP53, BRCA1/2, MLH1, MSH2, MSH6, PMS2, APC, MUTYH, PTEN, RB1, RET, VHL, WT1)
Demystifying Base Large Language Model Reproducibility and Accuracy in ACMG/AMP Variant Classification	platform speaker, TBC from program	TBD	TBD	AI / Informatics	tool / pipeline / ML method	LLM benchmark for ACMG/AMP classification reproducibility	Core — every cancer-variant classification rests on ACMG/AMP framework; LLM-validation is the gating question for clinical-lab adoption
Platform 1 — Hereditary Cancer and Adult Genetics	multiple platform speakers	Multiple	TBD	Cancer Genetics	mixed (clinical-lab cohort + classification + outcomes)	hereditary-cancer panel updates, VUS reclassification, universal-testing implementations	Core — primary cancer-genetics platform session
AI-assisted genome interpretation and networked data sharing	platform speaker, TBC	TBD	TBD	AI / Informatics	tool / pipeline / ML method	AI-assisted clinical-lab genome interpretation pipeline	Methods used in clinical cancer-variant interpretation downstream
Diagnostic challenges from the Undiagnosed Diseases Network	UDN clinical sites	UDN / NHGRI	TBD	Rare Disease	clinical-lab cohort / case readout	UDN diagnostic-yield updates + complex-case readouts	Indirect — UDN cancer-predisposition cases inform pan-cancer germline panel design
Genomic Oncology track	multiple	Multiple	TBD	Cancer Genetics	mixed	germline-somatic integration, pharmacogenomics in oncology, tumor-only vs paired testing	Core — cancer-genomics overlap with AACR / ASCO
Gene Therapy implementation (clinical-lab perspective)	multiple	Multiple (incl. gene-therapy clinical sites)	TBD	Therapeutics	symposium discussion	clinical-lab role in AAV / CRISPR / ASO gene-therapy patient selection + monitoring	Indirect — RB1 / TP53 gene-therapy and cancer-predisposition crossovers
Washington policy: payer / FDA / LDT implications	policy panel	ACMG advocacy + payer / FDA reps	TBD	Health Services / Policy	symposium discussion	FDA LDT final rule, CMS coverage, prior-auth for clinical genetics	Indirect — same regulatory framework gates somatic cancer-LDT operations
ClinGen VCEP updates (cancer-predisposition expert panels)	ClinGen Cancer VCEPs	ClinGen	TBD	Standards / Curation	standards / guideline update	ClinGen Hereditary Cancer / TP53 / Lynch / BRCA VCEP curation updates	Core — every clinical-lab cancer-variant classification consults ClinGen VCEP decisions
Cardiovascular genetics — cardiomyopathy / arrhythmia panel updates	multiple	Multiple (incl. Mayo, Stanford, MGB)	TBD	Cardiovascular Genetics	clinical-lab cohort / case readout	HCM / DCM / LQTS panel-design updates, ClinGen Cardio VCEP	Indirect — non-cancer, but methods overlap
Long-read clinical sequencing case readouts	multiple (PacBio / ONT clinical adopters)	Multiple	TBD	Clinical / Diagnostics	tool / pipeline	clinical WGS programs using HiFi / ONT for structural-variant + repeat-expansion resolution	Methods bleed into AGBT 2026 platform talks and AACR / ASHG cancer-SV detection
RNA-seq for variant interpretation	multiple	Multiple (incl. clinical-RNA programs)	TBD	Clinical / Diagnostics	tool / pipeline	RNA-seq for splice-variant / RNA-level evidence in ACMG/AMP PVS1 / PS3	Core methods — clinical-lab cancer-splice-variant interpretation
TED-style talks (perspective slot)	multiple	Multiple	TBD	Plenary perspective	TED-style / perspective	5–10 minute big-idea talks on field-shaping topics	Variable — past TED-style talks have included AI ethics, equity, return of results
Trainee Awards platform session (Richard King Awards)	Trainee awardees	Multiple	TBD	Trainee plenary	award lecture	winning trainee abstracts across categories	Variable but often high-signal

Additional shortlist candidates to stub from the Digital Edition on-demand catalog:

• Prenatal / NBS: GUARDIAN study readout; BabySeq2 update; cfDNA expansion to monogenic disorders; expanded carrier-screening panel composition.
• Cancer genetics: universal Lynch / HBOC testing implementation studies; CHARM / MAGENTA / WISDOM-style population-screening cohorts; germline reanalysis cohorts; pediatric-cancer-predisposition referral pathways.
• AI / Informatics: AlphaMissense in clinical workflows; ESM-3 / EVO benchmark on clinical variants; LLM-drafted reports + clinician oversight; ML-assisted curation queues.
• Therapeutics: Casgevy (exa-cel) / Lyfgenia post-launch clinical-lab perspective; n-of-1 antisense oligonucleotide programs (n-Lorem, Stoke); AAV redosing / immunogenicity from a genetics-clinic perspective.
• ELSI / equity: ancestry / population-database representation in classification; return of results in pediatrics; secondary-findings in prenatal contexts.
• Pre-meeting Short Courses to flag: clinical laboratory genetics primer; cancer genetics for the practicing clinician; coding / reimbursement; long-read clinical implementation.

Cross-cutting themes (for themes.md, deferred until post-meeting digest completes)

To synthesize across talks/ once populated:

1. LLM / foundation-model entry into ACMG/AMP variant classification. The Demystifying-LLM-Reproducibility platform plus AI-assisted genome interpretation talks suggest 2026 is the validation year for clinical-lab LLM workflows. Cross-link to ISMB 2026 / RECOMB 2026 methods papers and ASHG 2026 foundation-model-variant-effect-predictor talks.
2. Newborn-genomic-screening expansion: the cancer-predisposition wedge. Presidential Plenary theme. Reporting cancer-predisposition variants (RB1, TP53, RET, APC, BRCA, Lynch) from newborn WGS sits at the policy-debate edge. Cross-link to AACR 2026 hereditary-cancer / pediatric-cancer-predisposition sessions.
3. ACMG Secondary Findings list growth + scope debate. Beyond The List session. Cancer-genes dominate; pediatric-onset cancer-predisposition reporting is the load-bearing question.
4. CHIP / somatic mosaicism in clinical cancer testing. Clinical-lab framing of the population-CHIP body of work. Bridge to ASH 2026 MDS/AML and ASHG 2026 statistical-genetics CHIP talks.
5. NIFS clinical readiness. Non-invasive fetal sequencing as the next-generation prenatal modality beyond NIPT — clinical-lab-validation and ELSI questions both live here.
6. UDN diagnostic-yield maturation + complex-case framing. The diagnostic-odyssey case-based session — clinical-lab and clinician collaboration patterns that scale.
7. Long-read clinical sequencing inflection. Same theme as ASHG 2026 + AGBT 2026, with clinical-lab implementation framing (LIMS integration, variant calling, reporting).
8. Cancer pharmacogenomics + germline-somatic integration. Bridge between clinical-lab cancer testing and AACR / ASCO trial eligibility.