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.

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

 

 FINANCIAL DISCLOSURES

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.