Banner

Diagnostic Challenges Sessions

Call for Cases - Pediatric Diagnostic Dilemmas (Rare Knowns and Unknowns) Session

This session, held on Friday, April 13 from 6:00 PM - 7:30 PM and led by Dr. Margaret Adam, 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. This session provides a lively give and take discussion between the audience and the panel as each case is presented. 
If you would like your Rare Knowns and Unknowns included in the session, send cases to Dr. Margaret Adam. 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 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.  Due to the typically high demand for presentation slots, each participant will be limited to one case.  We encourage any participants who have presented unknown cases at previous ACMG Diagnostic Dilemmas sessions in the past to briefly update the audience if a diagnosis has now been determined; this update will not count as a case presentation and those presenting a brief update will still be able to present a new case, if desired.

Call for Cases - Prenatal Diagnostic Challenges

The session will be held on Thursday, April 12 from 4:15 pm – 5:45 pm and 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. This session provides a forum to discuss cases of maternal genetic disorders and the complications/management of pregnancy and potential implications to offspring. 

If you would like your cases included in the session, send them to Dr. Dawn Pekarek no later than March 9, 2018.  Please include ultrasound findings and postnatal outcomes if available with a limit of 5 slides per case plus a financial disclosure slide.

Call for Cases - Adult and Cancer Diagnostic Challenges

This session will be held on Thursday April 12 from 4:15 pm – 5:45 pm and be led by Dr.Sirisak Chanprasert and Dr. Shweta Dhar. It 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 give and take discussion between the audience and the panel as each case is presented.
 All types of adult cases are eligible:  neurogenetic, metabolic, cancer, connective tissue, cardiac genetics, ethical dilemmas, 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.  Please limit the text to the most important details that summarize pertinent positive and negative findings in addition to previous test results.

Call for cases will be announced in February 2018.

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

This session will be held on Thursday April 12 from 4:15 pm - 5:45 pm and be led by Dr. Jennelle Hodge and Dr. Devin Oglesbee. It 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, cytogenomics 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 5 slides that include the important details of the phenotype and test results in a story format that will allow pauses for audience engagement in diagnostics and problem solving. CASE SLOTS ARE FULL