Diagnostic Challenges Evening

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Diagnostic Challenges Evening

Call for Cases

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 sessions, taking place on Friday, March 17th from 6:00 PM - 7:30 PM. 

Diagnostic Dilemmas / Challenges (Non-accredited)
Friday, March 17, 2023, from 6:00 pm – 7:30 pm

Deadlines

Medical Diagnostic Challenges (Adult and Cancer)

January 17 – Case Submission
February 10 – Slides due to Session Moderator

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

December 22 – Case Submission
January 17 – Slides due to Session Moderator

Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)

December 22 – Case Submission
January 17 – Slides due to Session Moderator

 

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 2023 ACMG Annual Clinical Genetics Meeting. 
  2. Your submission email to the session chair should contain no more than 600 words.
  3. Cases submitted for consideration should include the following information:
                      o   Description of Clinical Presentation
                      o   Diagnostic Methods and Their Most Important Findings
                      o   Learning Points from this Case
                      o   All patient identifiers or other identifying information MUST BE REMOVED

If your case is selected, you will be required to:

  1. *Complete the Participation Agreement and Conflict of Interest Forms: all presenters are required to disclose relevant financial relationships and must comply with ACMG presenter guidelines (financial disclosure, recording release, deadlines, branding policy, and HIPAA compliance).
  2. All presenters must have a disclosure statement on their title slide describing their disclosures or indicating “nothing to disclosure”.
  3. Comply with the ACMG Branding policy, any affiliation logos should only be present on the title slide.
  4. Any acknowledgements should only be present on the title slide. 
  5. Use screenshots of web searches as WIFI access is spotty.
  6. For consistency across cases, slides should generally have a white background with black text.  Colorful illustrations are encouraged.
  7. Provide 1 learning objective / state what the learner should be able to do with case information.

*You will be contacted by ACMG with details and to access these forms.

Laboratory Diagnostic Challenges

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

Date: Friday, March 17, 2023
Time: 6:00 PM - 7:30 PM 
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 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 minutes and a total of 8 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. There will be seven presentations from various speakers, with 20 minutes left at the end for additional questions/discussion. 

SUBMIT A CASE
 

Medical Diagnostic Challenges (Adult and Cancer)

Date: Friday, March 17, 2023
Time: 6:00 PM - 7:30 PM 
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 5 min of time for presentation and discussion with the audience and the panelists.

SUBMIT A CASE

Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)

Date: Friday, March 17, 2023
Time: 6:00 PM - 7:30 PM 
Pediatric Cases Moderator: Chad Haldeman-Englert, MD, FACMG
Co-moderator: Reena Jethva, MD, MBA, FACMG
Prenatal Cases Moderator: Jenny King, MD, FACMG
Co-moderator: Myra Wick, MD, PhD, 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 and Prenatal Diagnostic Challenges (Rare Knowns and Unknowns) will be presented. 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.  Additionally, this provides a forum to discuss cases of maternal genetic disorders and the complications/management of pregnancy and potential implications to offspring.
Pediatric 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. 

Dr. Jenny King will lead the prenatal cases, and Dr. Chad Haldeman-Englert will lead the pediatric cases, both with a panel of experts and an audience of geneticists.

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. Presenters will be accepted on a first come, first served bases. 
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 test 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 PRENATAL CASE          SUBMIT A PEDIATRIC CASE

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