Diagnostic Challenges Sessions
Call for Cases! - Deadline January 17, 2020
Cases will be solicited until January 17th, 2020 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.
||Laboratory Diagnostic Challenges (Constitutional
and Neoplastic Cases in Molecular, Cytogenomic,
and Biochemical Genetics Specialties)
|Jennelle Hodge, PhD, FACMG
||Prenatal Diagnostic Challenges
||Jenny King, MD, FACMG
||Adult and Cancer Diagnostic Challenges
||Shweta Dhar, MD, MS, FACMG
||Pediatric Diagnostic Dilemmas (Rare Knowns and Unknowns)
||Margaret Adam, MD, FACMG
Case Submission Guidelines:
- You must be a registered attendee of the ACMG Annual Clinical Genetics Meeting. You cannot be an employee of an ACCME defined commercial entity (for sessions offering CME)
- For initial contact, email the session chair with a brief description of the proposed case including the reasoning as to why it would be of interest to share.
- The chair will provide feedback on the case and may request more details in either an abstract form or rough draft PowerPoint slide to include any relevant information such as:
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, please follow the steps below*:
- Submit your PowerPoint slides by email to the session chair by the deadline provided.
- Complete the 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.
- Any set slide limit will be communicated by the Chair.
*You will be contacted by ACMG with details and to access these forms.
3/20/2020 - 1:30 PM - 3:30 PM
Prenatal Diagnostic Challenges
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.
If you would like your cases considered for the session, send them to Jenny King at email@example.com.
Please include: name of individual who will be presenting the case, case information, ultrasound findings, available genetic testing, and postnatal outcomes (if available). Please limit your presentation to 5 slides plus a financial disclosure slide.. Selected cases will be invited to the stage at the Prenatal Diagnostic Challenges Session during the 2020 ACMG Meeting in San Antonio (March 17-21).
3/18/2020 - 1:30 PM - 3:30 PM
Laboratory Diagnostic Challenges (Constitutional and Neoplastic Cases in Molecular, Cytogenomic, and Biochemical Genetics Specialties)
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 test results in a story format that will allow pauses for audience engagement in diagnostics and problem solving. Cases will be solicited from the laboratorian community through January 17th, 2020 or until the session is filled. You're encouraged to submit cases as soon as possible as this session historically has had high interest. If you would like to have cases considered for the session, please contact Jennelle hodge, PhD, FACMG at firstname.lastname@example.org
3/20/2020 - 6:00 PM - 7:30 PM
Pediatric Diagnostic Dilemmas (Rare Knowns and Unknowns)
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. Dr. Margaret Adam will lead the session along 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. Anyone interested in presenting a case should send the case to Dr. Adam at email@example.com.
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.
Conflict of Interest: all presenters are required to disclose relevant financial relationships and must comply with ACMG presenter guidelines (disclosure, recording release, and HIPAA compliance).
3/20/2020 - 1:30 PM - 3:30 PM
Adult & Cancer Diagnostic Dilemmas
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. Anyone interested in presenting a case should send the case to Dr. Shweta Dhar at firstname.lastname@example.org.
We have time to present only 10 cases in this session, so please send your cases early. Presenters will be accepted on a first come, first served basis.