Hello, I am traveling to Baltimore this week for the ACMG conference. The conference does not suggest official “tracks” based on your interest, so here are two I would build myself from the trainee perspective. These are not exhaustive, so use these as starting points as you plan which sessions to attend. The conference schedule is here and the abstracts are available here. Note that abstract number is preceded by a letter: “O” is for Oral presentation, and “P” is for Poster presentation. If you are looking for more general advice on how to have a productive conference, this link will download a PDF of a paper (”How to Conference”) with a few tips for introverts (myself included). If you will be at the meeting, I hope to meet you in person! Sincerely, Daniel Track 1: Trainees and Mentorship These sessions are explicitly targeted towards trainees, students, and early-career professionals. Consider attending these if you want to network with peers and seek new mentors. I personally plan to attend several of these. Tuesday 3/10 6:00 - 7:30 PM | Camden Lobby, Level 300 Welcome Reception for Trainees, Residents, Fellows, and Students The title is self-explanatory. In past years, there has been free food and drinks. It is one of the easiest rooms of the week to walk into alone. Go if you can. Wednesday 3/11 8:00 - 9:30 AM | Room 318-323, Level 300 Early Genetics Trainee Forum -- Mastering the Challenges of Diagnosing and Managing Overgrowth, Connective Tissue, and Mitochondrial Disorders This one will be worth waking up early for. Each of these three classes of disorders can be tricky to diagnose using standard genetic testing approaches. In some cases, specialized testing may be required beyond the traditional exome or genome (e.g., targeted deep sequencing for overgrowth disorders). Diagnosing these disorders accurately is increasingly important because of a growing number of targeted treatments that are available or in clinical trials. Feeling comfortable with sending the appropriate testing once one of these disorders is suspected sets you apart as a genetics provider and helps provide the patient with the best care possible. 10:00 AM - 12:00 PM | Exhibit Hall AB, Level 100 Presidential Plenary Session -- The Future of Expanded Newborn Genomic Screening: Promise and Practice Right now, newborn screening catches a defined list of conditions, mostly through biochemical assays. The question is whether we should be adding broad genomic sequencing to that process and screening for hundreds or thousands of conditions at birth instead of dozens. I anticipate that this plenary will cover this topic and the practical challenges of doing that at scale. It is going to be one of the defining policy questions in our field over the next decade and one where geneticists can play a central role alongside public health experts. Walk straight from the Trainee Forum into this one. Thursday 3/12 9:00 - 10:00 AM | Exhibit Hall AB, Level 100 TED-Style Talks I wanted to highlight the talk by Shoumita Dasgupta on mentorship in genomic medicine. Mentorship is one of those things people talk about in the abstract but rarely give you a concrete framework for. Even if you are a trainee now, it is likely that you are or will be a mentor to somebody soon in the future. Dr. Dasgupta is a distinguished author, speaker, and geneticist. 10:15 - 11:30 AM | Exhibit Hall C-E, Level 100 Speed Mentoring Session This is a good place to practice your 2-minute “elevator pitch” as well as see what different career trajectories in genetics can look like. The folks who volunteer for this have a genuine interest in mentoring and helping others at an early career stage. If a conversation feels like a dead end, apply the five W’s of journalism (who, what, where, when, why) to jump-start the conversation. Don’t forget to exchange contact information (e.g., email, LinkedIn) with those who you made a genuine connection with. 11:45 AM - 1:00 PM | Room 314-317, Level 300 Early Career Genetic Mentor Luncheon Walk over from the speed mentoring session to this luncheon. You will again have a chance to meet with potential mentors as well as other early career trainees over lunch. Friday 3/13 1:30 - 3:00 PM | Room 314-317, Level 300 Student Workshop: Pathways to Careers Within Medical Genetics and Genomics This session will likely be relevant not just for students but also for folks who are mentors. Even if you are a recent graduate, these paths might look different from what they were when you went through the process. I anticipate a discussion about the different ABMGG training pathways and certifications. The breadth of the field is apparent in the training structure itself -- it is one of the few subspecialties where you could have completed any prior residency beforehand and that also welcomes PhDs. 5:30 - 7:00 PM | Rooms 307-310, 318-323, and 324-326, Level 300 Diagnostic Challenges Sessions (Pediatric/Prenatal, Laboratory, and Adult/Cancer) These are real cases, presented to the audience, where you work through the diagnostic logic alongside the experts on stage. Three sessions run in parallel, so pick the one closest to your area of interest. It is worth staying for on a Friday evening. Saturday 3/14 9:45 - 10:15 AM | Ballroom I-II, Level 400 GENEius Challenge Championship Round There are some true geniuses in our field, and I think you will see some of them in action at this session! Participants are all geneticists or genetic counselors in training. Track 2: Genomics and AI The meeting has multiple sessions on AI and genomic technology that are scattered across the schedule. Trainees may be interested in what the future looks like, and I do think that genomics and AI are going to play an increasingly important role in the future of our field. Here are some sessions that stood out to me. Wednesday 3/11 3:30 - 5:00 PM | Room 307-310, Level 300 Dilemmas of Omic Technologies for Molecular Diagnosis of Rare Disease Exome, genome, transcriptome, metabolome, proteome -- the number of omic tools available for rare disease diagnosis keeps growing! I expect that this session will discuss when to consider sending each test, as well as the pros and cons of each. It is important to build realistic expectations about what these tools can and cannot deliver in clinic in order to use our resources effectively. As you attend this session, keep in mind the principle that there are false positives and false negatives with any diagnostic test. Thursday 3/12 8:00 - 9:00 AM | Exhibit Hall AB, Level 100 Featured Platform Presentations (includes Demystifying Base Large Language Model Reproducibility and Accuracy in ACMG/AMP Variant Classification) There is one key question that the field needs answered before LLMs get embedded in variant classification pipelines: can these models produce consistent, reproducible classifications according to standard ACMG/AMP criteria? This is coming, and the reproducibility of these tools will determine how fast. The authorship team lists individuals from both Mayo Clinic and Google, which highlights the growing intersection of information technology and genomics. 1:45 - 3:15 PM | Room 307-310, Level 300 Advances in Genomics With AI: From Patient Selection to Variant Analysis and Beyond This session covers AI in variant classification (one of the most common use cases for AI in our field at present), electronic health record mining for identifying previously undiagnosed patients with rare disease (where there is a lot of potential), and facial analysis for recognition of rare disease (where the potential is more limited). The main question in our field over the next ten years is not how do we more accurately sequence a genome but rather what do we do with the mountains of data that come back. The trainees in this room will be the ones pioneering the adoption and integration of this technology into clinical workflows, and it is good to get exposure early. 4:00 - 5:30 PM | Ballroom IV, Level 400 Platform Session 4 -- Genomic Analysis Tools and Workforce (includes STELLAR-AIM for AI-based genetic differential diagnosis) I want to highlight one abstract here: O24 (STELLAR-AIM), an AI-based differential diagnosis tool that integrates literature, metabolomic, genomic, and phenotypic data. Pulling multiple data types together like this is not yet a reality in most clinical genetics encounters. However, for the patient who has had non-diagnostic broad DNA sequencing and where there is a strong suspicion for an underlying monogenic disorder, this is the kind of system that could help find an answer. Friday 3/13 1:30 - 3:00 PM | Ballroom I, Level 400 Platform Session 5 -- New Laboratory Techniques (Long-read, OGM, RNA, PRS) This session is where the laboratory technology content peaks. O53 is the one I would not miss -- two years of clinical long-read sequencing data, and they are showing reimbursement outcomes. Reimbursement ultimately determines whether a technology actually makes it into routine practice or stays academic. O58 covers optical genome mapping in pediatric rare disease, and O35 tackles RNA sequencing for VUS reclassification. All three of these modalities will be increasingly available in genetics clinics in the next 3-5 years, but only if payers cover them. This session should help us understand how far along we are with these technologies. Saturday 3/14 8:00 - 9:30 AM | Room 318-323, Level 300 Rewriting the Reference: Laboratory and Clinical Applications of the New Human Pangenome Reference For years, clinical genomics has mapped everything against a single linear reference genome (hg19, hg38, or T2T). The idea behind the human pangenome reference is to incorporate genetic variation from diverse populations into the reference itself, which means fewer false positives and better variant calling when sending clinical genomic tests for patients whose backgrounds are underrepresented in genomic databases. This is th
