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View Only- Spectrum of Positive Findings Encountered During Expanded Carrier Screening
Hosted by Mount Sinai - Sema4
About this course
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.

Session 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.
Course Description

Learning objectives

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 this session, participants should be able to:

  1. Discuss the history of carrier screening including the development of expanded carrier screening (ECS) panels.
  2. Critically assess the advantages and disadvantages of targeted genotyping versus full gene sequencing in carrier screening.
  3. Review advantages of performing ECS in all populations, regardless of ethnicity.
  4. 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.



Planning Committee

Monica Giovanni, MS, CGC

Geisinger Health System, Brookline, MA

Nothing to disclose


Liming Bao, MD, PhD, FACMG

Dartmouth-Hitchcock Medical Center

Nothing to disclose



Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG


Presenters and Disclosures


Ashley Birch, Ph.D, FCCMG, DABMGG

Associate Director, Reproductive Genetics Division, Sema4

Assistant Professor, Department of Genetics and Genomic Sciences, Icahn School of Medicine at      Mount Sinai
      Disclosure (Self) (Spouse):  Salary/Employment Sema4


Bryn D. Webb, MD, FACMG

Medical Officer, Sema4

Assistant Professor, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
Disclosure (Self): Consultant/Consulting Fee/Other remuneration for Sema4

Availability: On-Demand
Cost: ACMG Member: $0.00
Non-Member: $30.00
Postdoc/Trainee (M): $0.00
Postdoc/Trainee (NM): $30.00
Student (M): $0.00
Student (NM): $30.00
Credit Offered:
No Credit Offered

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