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Diagnostic Challenges Evening

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Diagnostic Challenges Evening

Call for Cases

Call for Diagnostic Cases is Open
Submit Early as slots fill up fast!

Diagnostic Dilemmas / Challenges are interactive sessions which will allow genetics professionals to present cases of rare knowns and unknowns, as well as share best practices. We have three exciting concurrent sessions:

  1. Laboratory Diagnostic Challenges (Constitutional and Neoplastic Cases in Molecular, Cytogenomic and Biochemical Genetics Specialties)
  2. Medical Diagnostic Challenges (Adult and Cancer)
  3. Challenge the Experts - Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)

These concurrent sessions take place on Friday, March 15, 2024 from 5:30 pm – 7:00 pm. You may only submit one case proposal to one of the sessions.

Important Dates

Tuesday, October 3, 2023 Call for Diagnostic Cases and Registration Opens
Friday, January 19, 2024 Diagnostic Cases Submission Deadline
January 20 - January 24, 2024 Session Chairs Review Submissions
Friday, January 26, 2024 Acceptance / Rejection Notices emailed
Monday January 29, 2024 Presenters complete Participation Forms in Presenter Portal
Wednesday, January 31, 2024 Deadline for presenters to complete forms
Friday, February 23, 2024 Final PowerPoint Presentations Uploaded
Test Questions Submitted for Accredited Sessions
February 23 - March 5, 2024 Slide Review and Peer Review Process
March 12 - 16, 2024 See you in Toronto, Canada


Click on the bar below and read the Case Submission Guidelines BEFORE submitting a case.

Case Submission Guidelines

  1. You must be registered to attend for the 2024 ACMG Annual Clinical Genetics Meeting in Toronto, Canada and able to present in person.
  2. Due to educational credits offered for these sessions, presenters must complete the financial disclosure process when submitting a case for any of these sessions. Typically, a presenter cannot be an employee of an ACCME defined Ineligible company, but there are limited exceptions that ACMG Education will mitigate.
  3. Submit a brief description of the proposed case including why it would be of interest to share with the community. You are allotted up to 400 words for your description. The program will not allow submission if the maximum number is exceeded.
  4. A draft PowerPoint slide (see example "Case submission example" is also helpful for the moderators to consider your case proposal. The draft PoerPoint slide should include the following:
                      o   Description of clinical presentation
                      o   Diagnostic methods and their most important findings
                      o   Learning points from the case
                      o   NO patient identifiers or other identifying information (based on HIPAA definition)

If your case is selected for ACMG 2024, the moderators will request the following*:
    A final presentation PowerPoint slide deck with a total of 10 slides for the Laboratory Diagnostic Challenges cases and 5 slides for the other sessions.

  1. Complete participation  forms in an online system (financial disclosure, HIPAA authorization and AV release forms).
  2. All presenters must comply with the ACMG presenter branding policy and guidelines. Use the provided "ACMG Case Submission Slide deck Template" to allow easier collection of cases into a single deck later. To comply with the ACMG Branding Policy, any affiliation logos should only be present on the title slide. Any acknowledgements should only be present on the title slide. 
  3. Use screenshots of web searches as WIFI access can be unreliable.
  4. For consistency across cases, slides should generally have a white background with black text.  Colorful illustrations are encouraged.
  5. Final presentation slides must be completed by February 23, 2024.

*You will be contacted by ACMG with details and to access these forms.
For technical support, please click on the "Feedback and Support" tab to the right of your screen.

Laboratory Diagnostic Challenges

Constitutional and Neoplastic Cases in Molecular, Cytogenomic and Biochemical Genetics Specialties

Moderators: Devin Oglesbee, PhD, FACMG and Yassmine Akkari, PhD FACMG

This session provides attendees with the opportunity to bring cases with challenging diagnostic results or approaches to the attention of fellow clinical laboratorians to share knowledge and best practices. Cases from multiple clinical diagnostic specialties, including molecular, cytogenomic and biochemical genetics, are eligible in both the constitutional and somatic fields. Each presentation/discussion will be limited to 10 - 15 minutes and a total of 10 slides that include the important details of the phenotype test results in a story format that will allow pauses for the audience to engage in diagnostics and problem solving. 

Learning Objectives:

  • Apply an interpretation approach to rare results in multiple clinical laboratory specialties
  • Discuss a case presentation from phenotype through test result interpretation
  • Contribute to a differential interpretation discussion
  • Recognize the meaning of testing results in rare case examples 

CASE SUBMISSION IS CLOSED

Challenge the Experts - Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)

Moderators: Keith Eddleman, MD, FACMG and Chad Haldeman-Englert, MD, FACMG

This is an exciting new format for this session!  The session provides attendees an opportunity to present cases to a panel of experts and an audience of geneticists for discussion of differential diagnosis, treatment, and counseling options.  Two prenatal and two pediatric cases will be selected (rare knowns and unknowns) for an interactive session with the audience and the expert.  The presenter will have the opportunity to "challenge the expert" with their case.  Prenatal cases include those that are rare knowns of prenatally diagnosed malformations, genetic syndromes, or potential genetic syndromes and include ultrasound findings, management, and if available, postnatal findings.  Pediatric cases can be an unknown or a rare known that has not been presented previously as an unknown.

Each presentation will be limited to 10 min, with 5 min for audience and expert participation.  Please limit the text to the most important details that summarize pertinent positive and negative findings in addition to previous results.

Learning Objectives:

  • Discuss a case presentation from chief complaint to diagnosis
  • Contribute to a differential diagnosis
  • Review diagnostic workup suggested by experts
  • Recognize clinical features of rare disorders

         CASE SUBMISSION IS CLOSED

Medical Diagnostic Challenges (Adult and Cancer)

Moderators: Shweta Dhar, MD, MS, FACMG and Fuki Hisama, MD, FACMG

This session provides attendees with an opportunity to bring cases to the attention of a panel of experts and an audience of geneticists for discussion of differential diagnosis, treatment and counseling options in adult patients with genetic disorders. This session provides a lively discussion between the audience and the panel as each case is presented.

All types of cases are eligible: neurogenetic, metabolic, cancer, connective tissue, cardiac, ethical dilemmas, counseling, etc. The cases can be pure unknowns or patients with a clinically uncharacterized or incompletely characterized VUS. Each presentation will be limited to a total of 5 slides with 10 min of time for presentation and discussion with the audience and the panelists. You can present an unknown diagnosis or a rare known diagnosis or even an update on a previously presented unknown case.

Learning Objectives:

  • Discuss a case presentation from chief complaint to diagnosis
  • Contribute to a differential diagnosis
  • Review diagnostic workup suggested by experts
  • Recognize clinical features of rare cases

                                                                                                                         CASE SUBMISSION IS CLOSED