Course : 2017 Best of the Best from the Annual Meeting

  The 2017 Best of the Best from the Annual Clinical Genetics Meeting highlights four sessions. Click "Launch" for more information.


1.Cardinal signs of Six Selected Syndromes include presentations on De Barsy Syndrome, X-linked Hypophosphaemic Rickets, Ellis-van Creveld Syndrome, Bohring-Opitz, Wiedmann-Rautenstrauch Syndrome and Primrose Syndrome. Presentations include the "cardinal signs" (key manifestations which should trigger a clinical diagnosis), additional key components of the syndrome, cause (if known), natural history, and differential diagnosis.

2. Genetic Challenges and Controversies in Suspected Child Abuse Cases: Distinguishing Fracture Facts from Fracture Fiction focuses on the role that a clinical geneticist may play in the multidisciplinary evaluation of children with clinical findings concerning for child abuse. In considering child abuse from a clinical genetics perspective, presentations can be categorized into fractures, skin lesions, hemorrhage, growth disturbances, and concern for caregiver-fabricated illness (previously known as Munchausen syndrome by proxy). This session focuses on fractures and current diagnostic challenges and public misperceptions and controversies.

3. The Ticking Time Bomb - Adult-onset Presentations of Inborn Errors of Metabolism is geared towards genetic clinicians who evaluate adult patients but who are not necessarily specialized in managing inborn errors of metabolism. This session will begin with an overview of neuropsychiatric presentations of inborn errors, as neurological presentations are a common thread in the subsequent presentations. Subsequent talks will focus on disorders which may be screenable (the recent RUSP addition X-linked adrenoleukodystrophy), non-screenable (Niemann-Pick type C, mitochondrial disorders, the porphyrias), or both (late-presenting urea cycle disorders). The final presentation will focus on mitochondrial disease as an example of a highly diverse set of adult-onset clinical phenotypes.

4. Multi-Gene Testing for Inherited Cancer Predisposition: Opportunities and Challenges was a session on the advances in sequencing technology that have led to a paradigm shift for inherited cancer predisposition testing. The use of multi-gene panels enables simultaneous testing of multiple genes. They also may lead to testing of moderate and uncertain risk genes, identification of mutations in genes discordant with the clinical phenotype, as well as a much higher rate of variants of uncertain significance (VUS) as more genes are tested. Speakers will discuss risk assessment and management implications for many of the newer genes on these multigene panels, as well as the handling of VUS and uninformative results identified, expansion of classic clinical phenotypes, and the incorporation of tumor sequencing to identify potential germline risk and guide testing and management. 

 Target audience

Geneticists, genetic counselors, other healthcare providers, fellows, students

Educational Credits

Course Information with Educational Credit Please Click Here 

Date of Release:  March 22, 2017
Expiration Date: March 22, 2020
Estimate Time of Completion: 8 hours
Credit Offered: CME/NSGC/P.A.C.E.

Course Information without Educational Credit Please Click Here

Registration and Fees

Educational Credits

Members Fellows/ Trainees/Students $85
Members $110
Non-members $160
Additional fee (~$25) applies for NSGC credit that is billed by NSGC

Course only – No educational credits

All ACMG Members Fellows/ Trainees/Students $50
Non-members $75


Learning objectives

At the conclusion of the series, participants should be able to:

1. Describe the cardinal signs of each condition

2. Explain the mode of inheritance and cause of each disorder

3. Recognize the natural history of each condition

4. Describe a reasonable differential diagnosis for each disorder

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Purchase without Educational Credits