Diagnostic Challenges Sessions

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Diagnostic Challenges Sessions

Call for Cases

Cases will be solicited until January 14th, 2022 or until the session is filled.

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 four exciting sessions:

1. Laboratory Diagnostic Challenges (accredited)  Constitutional and Neoplastic Cases in Molecular, Cytogenomic and Biochemical Genetics Specialties

2. Adult & Cancer Diagnostic Challenges (accredited) 

3. Prenatal Diagnostic Challenges (accredited) 

4. Pediatric Diagnostic Dilemmas (Rare Knowns and Unknowns) (Non-accredited) 

Case Submission Guidelines

  1. You must be a registered attendee for the in person registration option of the ACMG Annual Clinical Genetics Meeting. You cannot be an employee of an ACCME defined Ineligible company (for accredited sessions)
  2. Submit a brief description of the proposed case including the reasoning as to why it would be of interest to share. You are allotted 400 words for your description. The program will not allow submission if the maximum number is exceeded.
  3. Submit a draft PowerPoint file (see example “Case submission example”). Each presentation will be limited to a total of 10 slides Lab and 5 slides for the others. 

Rough draft PowerPoint slide to include any relevant information such as:
    - Description of clinical presentation
    - Diagnostic methods and their most important findings
    -  Learning points from the case
    - NO patient identifiers or other identifying information (based on HIPAA definition)

If your case is selected, please follow the steps below*:

  • Complete participation forms in an online system i.e. HIPAA authorization, financial disclosure and AV release forms); a link will be sent by ACMG. All presenters are required to indicate relevant financial relationships and must comply with ACMG presenter guidelines (i.e. disclosure, recording release deadlines, logo policy, and HIPAA compliance).
  • Use the provided "ACMG Case Submission Slide deck Template" to allow easier collection of cases into a single deck later.
  • All presenters must have a disclosure statement on their title slide describing their disclosures or indicating "no disclosures".
  • To comply with the ACMG Logo Policy, any affiliation logos should only be present on the title slide.
  • Any acknowledgements should only be present on the title slide.
  • Use screenshots of web searches as WIFI access can be unreliable.
  • For consistency across cases, slides should generally have a white background with black text.; Colorful illustrations are encouraged.
  • Upload your final PowerPoint slides by February 28, 2022. 

    *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 (accredited)

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

Date: Thursday, March 24, 2022
Time: 4:15 PM - 5:45 PM CT
Moderator:
Devin Oglesbee, PhD, FACMG 
Co-moderator: Yassmine Akkari, PhD FACMG

This session provides attendees with the opportunity to bring cases with challenging diagnostic results or innovative approaches to the attention of fellow clinical laboratorians to share knowledge and best practices. Cases from multiple clinical diagnostic specialties, including molecular, cytogenomics 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 up to 10 slides that include the important details of the phenotype and results in a story format that will allow pauses for audience engagement in diagnostics and problem solving. 

SUBMIT A CASE

Adult and Cancer Diagnostic Challenges (accredited)

Date: Wednesday, March 23, 2022
Time: 1:30 PM - 3:00 PM CT

Moderator: Shweta Dhar, MD, MS, FACMG
Co-moderator: 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. 

SUBMIT A CASE

Prenatal Diagnostic Challenges (accredited)

Date: Saturday, March 26, 2022
Time: 8:30 AM - 10:00 AM CT

Moderator: Jenny King, MD, FACMG
Co-moderator: Myra Wick, MD, PhD, FACMG

The session will be an interactive session which will allow genetics professionals to present cases of rare knowns and unknowns. These will include cases that are rare knowns of prenatally diagnosed malformations, genetic syndromes, or potential genetic syndromes and include ultrasound findings, management, and if available, postnatal findings. The rare knowns presentation may be of assistance to others in practice. The session will also provide an opportunity for individuals to present cases of unknowns for assistance with management suggestions or potential diagnoses. It will also be a time to illustrate the need for a multidisciplinary approach and communication for optimal care of patients and families. Additionally, this provides a forum to discuss cases of maternal genetic disorders and the complications/management of pregnancy and potential implications to offspring.

Cases to consider:

  • Rare prenatally diagnosed malformations
  • Genetic syndromes
  • Potential genetic syndromes
  • Maternal genetic cases can also be considered highlighting complications/management of pregnancy and potential implications to offspring

Please be sure to include ultrasound findings, management, and if available, genetic testing results and postnatal findings. Each presentation will be limited to 5 slides.

SUBMIT A CASE

Pediatric Diagnostic Dilemmas (Rare Knowns and Unknowns)

Date: Friday, March 25, 2022
Time: 5:30 PM - 7:00 PM
Moderator:
Chad Haldeman-Englert, MD, FACMG
Co-moderator: Margaret Adam, MD, MS, FACMG

This session provides attendees 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. Cases and updates on past cases for the evening session, Pediatric Diagnostic Dilemmas (Rare Knowns and Unknowns) will be presented. Cases can be an unknown, a rare known that has not been presented previously as an unknown, or a previously presented unknown case in which a diagnosis has subsequently been determined. Due to the demand to present cases, each person will be allowed to present only one unknown case. However, this does not preclude a person from also presenting one known case or one update on a previously presented unknown case. 

Each presentation will be limited to a total of 4 slides; 1 slide with text and up to 3 slides with pictures and/or images. Please limit the text to the most important details that summarize pertinent positive and negative findings in addition to previous results. Each presentation will be limited to a total of 5 minutes; 2 minutes for case presentation and 3 minutes for discussion. Although we want everyone to be able to present a case, due to the popularity of the session, cases will be accepted on a first come, first served basis.

SUBMIT A CASE