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Newborn Sequencing Cases from the NSIGHT BabySeq Project
Hosted by Memorial Sloan Kettering Cancer Center and Harvard Medical School
About this course
Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).

Session Description:
Newborn genomic sequencing (nGS) provides the opportunity to detect a wide range of conditions for which early knowledge can improve health outcomes, while challenges exist in the interpretation and reporting of nGS results. The BabySeq Project is a randomized controlled trial within the NewbornSequencing in Genomic Medicine and Public Health (NSIGHT) consortium that explores the use of genomic sequencing in newborns. Two cohorts consisting of healthy newborns from the well baby nursery or ill newborns from neonatal intensive care units are enrolled, and participants are randomized to receive either standard of care only or genomic sequencing in addition to standard of care. Here we present two cases encountered in the BabySeq Project that illustrate the challenges of analyzing and reporting nGS results and our approaches to overcome them.
Course Description

Date of Release:  October 10, 2018
Expiration Date:  October 10, 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. Describe approaches to genomic sequencing interpretation for sick newborns in the NICU
  2. Identify challenges in phenotype-driven genomic sequencing analyses in newborns
  3. Address the complexities when unexpected results are returned to families
  4. Illustrate the impact of genomic information on families and on future medical care


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

ACMG Education Committee Chair and Liaison to the Program Committee

Nothing to disclose


Anne Slavotinek, MB.BS., PhD, FACMG

University of California, San Francisco (UCSF)

Grant/Research Support National Eye Institute and National Institutes of Health; Royalties: Oxford University Press, UptoDate


 John Bernat, MD, PhD, FACMG

University of Iowa

Receives grant/research support from Sanofi Genzyme, Shire and Protalix


Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG


Presenter and Disclosures


Ingrid A. Holm, MD, MPH, FACMG

Associate Professor of Pediatrics, Harvard Medical School

Dr. Holm has no disclosures.


Ozge Birsoy, PhD, FACMG

Assistant Director of the Laboratory for Molecular Medicine, Brigham and Women’s Hospital

Dr. Birsoy has no disclosures.



Availability: On-Demand
Available Oct 10, 2018 to Oct 10, 2021
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: 1 CME (AMA) Credit
1 CME (Other) Credit
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