Course : ACMG Genomics Case Conference November 2015

Primary and Secondary Genomic Sequence Findings Applied to Patient Diagnosis 

Hosted by Geisinger Health System 

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Course Description:

Primary and Secondary Genomic Sequence Findings Applied to Patient Diagnosis and Care 

During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. There are four overall learning objectives that will be covered in each session. As well there are specific learning objectives pertinent to the cases presented. At the conclusion of the session the learners will rate the session and whether each learning objective has been met.

Target audience

1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.

2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

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Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)


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

1. Describe the clinical utility of whole exome/whole genome sequencing tests

2. Identify clinical indications for whole exome/whole genome sequencing

3. List determinants used to assess the probability of a variant’s pathogenicity

4. Elaborate on the importance of pre-test counseling and consent

Session learning objectives

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

1. Discuss the use of genome sequencing in diagnostic odysseys and clinical conundrums

2. Describe the potential value of secondary findings returned to biobank participants who underwent research exome sequencing


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