Course : ACMG Genomics Case Conference January 2018

Spectrum of Positive Findings Encountered During Expanded Carrier Screening

Hosted by Mount Sinai Genomics/ Sema4

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Course Description
In this webinar, we will provide an introduction to expanded carrier screening (ECS) and describe several cases that emphasize its clinical utility. These cases will include those that highlight the benefits of next generation sequencing over genotyping; the advantage of offering testing for a wide array of diseases, even those considered rare; the utility of offering individuals access to expanded panels, regardless of an individual’s ethnicity; and the use of including ancillary assays in testing panels. We will also discuss some issues to consider when performing ECS, including the effects of milder alleles, non-penetrance, and genotype-phenotype correlations.

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

Target audience
a. 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.
b. 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.

Educational Credits
Course Information with Educational Credit Please Click Here

Date of Release: January 17, 2018
Expiration Date: November 25, 2021
Estimate Time of Completion: 1 hour
Course must be completed by the expiration date

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Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)


At the conclusion of this session, 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
5 Discuss the history of carrier screening including the development of expanded carrier screening (ECS) panels.
6. Critically assess the advantages and disadvantages of targeted genotyping versus full gene sequencing in carrier screening.
7. Review advantages of performing ECS in all populations, regardless of ethnicity.
8. Recognize that accurate risk assessment and genetic counseling is dependent on assessing the detection rate and residual risk for the specific ECS panel used as well as knowledge of the patient’s personal and family history.

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