2019 Annual Quality Congress

Genomic Medicine: 21st Century Care for Acutely Ill Infants

Friday, October 4 from 1:00 p.m. to 5:00 p.m.

Loews Hotel across the street from main Annual Quality Congress

In collaboration with Rady Children's Institute for Genomic Medicine

Genomic medicine is a relatively recent development in the healthcare sphere introduced only 16 years ago with the completion of the first human genome. Incorporating genomics into clinical decision making has only been feasible with the advent of improved technologies allowing cost-effective genomic analysis. Genomic diagnostic and decision-making tools are being developed at a higher rate now than ever before.

Unfortunately, didactic coursework in healthcare curricula that prepares healthcare professionals to utilize genomic medicine has been slow to catch up. This has left many practicing NICU and PICU professionals in the workforce without formal training in pediatric genomic medicine, which is hampering the adoption of genomic sequencing in the care of acutely-ill children.

Participants in this session will explore how genomic medicine can be applied in the NICU and PICU. Teams will learn from real-world examples and collaborate together to advance knowledge and understanding of how genomic medicine can improve the care of critically-ill infants.

Cost: $195 (complimentary for Genomic Network teams)

Agenda

1:00 p.m.
Welcome and Introductions
Jeffrey Horbar, MD

1:10 p.m.
Pre-Assessment
Karen Garman, EdD

1:20 p.m.
The Promise and Challenges of Genomics
Alan Guttmacher, MD

1:50 p.m.
Intro to Rapid Precision Medicine
Stephen Kingsmore, MD, PhD

2:10 p.m.
Principles of Genomic Analysis
Shimul Chowdhury, PhD

2:30 – 3:00 p.m. Roundtable Discussions
Choice of two. Fifteen minutes each.

  • Decision Making Concerns When It Comes to WGS
    Alan Guttmacher, MD
    Since the ethical evaluation of genomic testing is based on the respect of parental decision-making about their children’s health care, this discussion will address the social and behavioral impact of whole genome sequencing (WGS) on children and their families.
  • The New World of Genomics
    Stephen Kingsmore, MD, PhD
    Genetic diseases are leading causes of childhood mortality. Whole genome sequencing (WGS) is relatively new method for diagnosing genetic diseases.  Join the discussion that reviews the current diagnostic utility (rate of causative, pathogenic, or likely pathogenic genotypes in known disease genes) and growing clinical utility (proportion in whom medical or surgical management was changed by diagnosis) in children with suspected genetic diseases.
  • Reporting Results to the Clinical Team
    Shimul Chowdhury, PhD
    This interactive session 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 counselling in support of achieving the health benefits and minimizing the potential for patient harm.
  • Importance of EMR in Phenotyping a Case
    Nathaly Sweeney
    This case-based presentation will explain what a phenotype is, how specific phenotypic terms are selected, how phenotyping is used in genomic diagnosis, and the challenges/limitations of accurately determining a phenotype for a patient.
  • Communicating Results To The Family
    Danny Miller/Lisa Salz
    This case-based discussion will focus on the return of genomic test results in the clinical context of 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.
  • Implementation: New to rWGS
    Russel Nofsinger/Linda Franck
    With the advent of adoption by multiple NICU partners, discussant review the frequently asked questions about concerns related to the implementation environment and organizational readiness. Overall, the discussants support initial implementation of genomic testing in NICU/PICU as part of an interdisciplinary service delivery model that promotes gradual adoption of genomics by the intensive care workforce while ensuring safety, sustainability, and efficiency.
  • Evidence Based Medicine meets Precision Medicine
    Roger Soll, MD
    This interactive session will address the current state of the evidence for the role of genomics in precision medicine and the potential for the future.
  • Setting SMART Aims for Genomics in the NICU
    Jeffrey Horbar, MD
    Implementing modern genomics in the NICU can be challenging. Quality Improvement can help. We will discuss setting aims for improvement when embarking on the genomics journey.

3:00 p.m.
Break

3:15 p.m.
Implementation Strategies
Linda Franck, PhD

3:45 p.m.
My Family’s Experience
Danny Miller

4:00 – 4:30 p.m. Roundtable Discussions
Choice of two. Fifteen minutes each.

  • Reporting Results to the Clinical Team
    Shimul Chowdhury, PhD
  • Importance of EMR in Phenotyping a Case
    Nathaly Sweeney
  • Communicating Results To The Family
    Danny Miller/Lisa Salz
  • Implementation: New to rWGS
    Russel Nofsinger/Linda Franck
  • Evidence Based Medicine meets Precision Medicine
    Roger Soll, MD
  • Setting SMART Aims for Genomics in the NICU
    Jeffrey Horbar, MD

4:30 p.m.
Post-Assessment
Karen Garman, EdD

4:45 p.m.
The Future
Jeffrey Horbar, MD / Stephen Kingsmore, MD, PhD

5:00
Adjourn

Faculty