Diagnostic Challenges Sessions
Call for Cases! - Deadline February 13, 2019
Diagnostic Dilemmas / Challenges are interactive sessions which will allow genetics professionals to present cases of rare knowns and unknowns, as well as best practices
||Prenatal Diagnostic Challenges
||Jenny King, MD
||Laboratory Diagnostic Challenges (Constitutional
and Neoplastic Cases in Molecular, Cytogenomic,
and Biochemical Genetics Specialties)
|Jennelle Hodge, PhD, FACMG
||Pediatric Diagnostic Dilemmas (Rare Knowns and Unknowns)
||Margaret Adam, MD, FACMG
||Adult & Cancer Diagnostic Dilemmas
||Shweta Dhar, MD, MS, 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.
- Your submission email to the session chair should contain no more than 600 words
- 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 selected, you will be required to*:
- 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 (disclosure, recording release, deadlines, logo policy, and HIPAA compliance).
- All presenters must have a disclosure statement on their title slide describing their disclosures or indicating “nothing to disclosure”.
- 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 is spotty.
- For consistency across cases, slides should generally have a white background with black text. Colorful illustrations are encouraged.
- Provide 1 learning objective / state what the learner should be able to do with case information. Objectives are action-oriented and should begin with words such as recognize, diagnose, assess, treat, distinguish or manage. They should NOT begin with terms like know how to or understand.
- Provide 1 multiple choice test question with five possible answers. Indicate the correct choice and the rationale for the answer. These are used after the meeting for educational purposes (exempt Pediatric Diagnostic Dilemmas).
*You will be contacted by ACMG with details and to access these forms.
4/3/2019 - 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 by February 13, 2019.
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. The session chairs will select cases by February 18th. Selected cases will be invited to the stage at the Prenatal Diagnostic Challenges Session during the 2019 ACMG Meeting in Seattle (April 2-6).”
4/5/2019 - 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 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 8 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. There will be seven presentations from various speakers, with 20 minutes left at the end for additional questions/discussion. Cases will be solicited from the laboratorian community leading up to the meeting.
Cases are Filled
4/5/2019 - 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 firstname.lastname@example.org by February 13th.
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).
4/6/2019 - 8:00 AM - 9:30 AM
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 email@example.com by February 13th.
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.