Diagnostic Dilemmas Sessions

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

This session, held on Friday, March 24 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. The session is supported by the FACE2GENE platform. You must register to use the platform, use the activation code ACMG2017 (free)

If you would like your Knowns and Rare 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/Perinatal Diagnostic Dilemmas

The session will be held on Wednesday, March 22 from 1:30 pm – 3:00 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. 

The session will be moderated by Drs. Britton Rink and Dawn Pekarek.  If you would like your cases included in the session, send them to Dr. Dawn Pekarek.  Send information regarding cases that involve rare prenatal knowns or unknowns. Please include ultrasound findings and postnatal outcomes if available.


Call for Cases - Adult Diagnostic Dilemmas

This session led by Dr. Fuki M. Hisama and Dr. Shweta Dhar, 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.
If you would like your Knowns and Rare Unknowns included in the session, send them to Dr.Fuki Hisama. All types of adult cases are eligible:  neurogenetic, metabolic, cancer, connective tissue, cardiac genetics, ethical dilemmas, etc. The 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. 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.  Each presentation will be limited to a total of 10 minutes; 4 minutes for case presentation and 6 minutes for discussion.  

Registration for ACMG 2017

Registration is open

March 21 - 25, 2017
Phoenix Convention Center
Phoenix, Arizona

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