Course : ACMG Genomics Case Conference October 2018

Newborn Sequencing Cases from the NSIGHT BabySeq Project
Hosted by Memorial Sloan Kettering Cancer Center and Harvard Medical School

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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.

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 Credit
Date of Release: October 10, 2018
Expiration Date: October 10, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

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Registration and Fees

Fees with Educational Credits*
ACMG Member $15.00
Non-members $55.00

Fees without claiming educational credits:
ACMG Member and ACMG Trainee – No Charge
Non-members- $30.00


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

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