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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

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

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.


Continuing Education Information:


The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation:

The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


ACMG follows the ACCME policy on Content Validation for CME activities, which requires: a)All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients. b)  All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.


The ACMG supports medical information privacy. While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized. All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information. If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available upon request.


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: Retired
Cost: ACMG Member: $15.00
Non-Member: $55.00
Postdoc/Trainee (M): $15.00
Postdoc/Trainee (NM): $55.00
Student (M): $15.00
Student (NM): $55.00
Credit Offered:
No Credit Offered

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