Program Agenda
12:00 p.m. - 12:30 p.m.
Pre-Assessment Completion

Participants will be asked to complete a brief confidence survey on their level of understanding before experiencing the preconference workshop.

12:30 p.m. - 1:00 p.m.
Intro to Precision Medicine

This introduction to whole genomic sequencing will review the definition of genomes and how through the newly introduced research process of rapid whole genomic sequencing (rWGS), the quality of pediatric care is advancing in ways never seen before in NICUs and PICUs around the country.

1:00 p.m. - 1:30 p.m.
Types of Genetic Tests: Benefits and Limitations of Each

This presentation will discuss the various types of genetic tests available and describe the benefits and limitations of each type of testing based on the clinical case at hand.

1:30 p.m. - 2:00 p.m.
The Basics of Genetic Variation

This presentation will explain what a genetic variation is, how specific variation terms are determined, how genetic variations are used in genomic diagnosis, including the challenges/limitations of accurately reporting them to the clinical teams.

2:00 p.m. - 2:15 p.m.
2:15 p.m. - 3:45 p.m.
Case-Based Roundtable Discussions (30 minutes/table)

Station 1: Principles Of Genomic Analysis

This roundtable discussion of a case will focus on the main principles of genomic analysis and the major steps involved in establishing a molecular diagnosis.


Station 2: Reporting Results To The Clinical Team

This roundtable discussion will focus on reporting molecular result to the clinical team. Effective communication between laboratory and clinical professionals regarding the test and result is crucial in order to promote appropriate clinical decision making and counseling in support of achieving the health benefits and minimizing the potential for patient harm.


Station 3: Communicating Results To The Family

This roundtable discussion will focus on the return of genomic test results in two clinical contexts: the acutely-ill, infant in the PICU and the child for whom previous genetic testing did not yield an answer. It will also summarize key points to be made in the return of genomic test results.
3:45 p.m. - 4:00 p.m.
Post-Session Assessment and Evaluation

Participants will be asked to revisit the brief confidence survey on their level of understanding.

3:45 p.m. - 4:00 p.m.