Breakfast Sessions

THURSDAY OCTOBER 11

7:00 – 8:15 a.m. | Industry Breakfast Sessions

 

FRIDAY OCTOBER 12

7:00 – 8:15 a.m. | Industry Breakfast Sessions

 

SATURDAY OCTOBER 13

7:00 – 8:15 a.m. | Industry Breakfast Session

 

Back to top

 

 

Exome Sequencing of >100,000 Clinical Samples: Lessons Learned
Thursday October 11, 7:00 – 8:15 a.m.

 

Speaker:
Jane Juusola, PhD, FACMG, Clinical Molecular Geneticists, Director of Clinical Genomics Program, GeneDx

 

Objectives:

At the end of this session, participants will be able to:

  • Summarize the approach taken to analyze and interpret clinical exome data, especially in a prenatal or NICU/PICU setting.
  • Describe the reporting of clinically relevant variants that may be challenging to interrogate, including copy number variants (CNVs), mosaicism, mobile element insertions (MEIs), and variants in candidate genes.
  • Identify why reanalyzing exome data is important.
  • Examine diagnostic utility of exome versus genome sequencing.

 

A revealing look at the lessons learned from clinical exome sequencing (ES) of more than 100,000 samples by a diagnostic laboratory. This presentation may be useful for genetic counsellors who wish to expand their exome sequencing knowledge base, especially regarding diagnostic yields for different phenotypes, the utility of rapid ES in the prenatal and NICU settings, detection of CNVs and MEIs from ES data, the importance of reanalysis, and the clinical utility of exome versus genome sequencing.

 

Presented by

Gene Dx

 

Back to top

 

 

Screening from A(neuploidy) to Z(ygosity): SNP-based NIPT for Twins
Thursday October 11, 7:00 – 8:15 a.m.

 

Speaker:
Trudy McKanna, MS, CGC, Genetic Counsellor, Associate Director of Medical Genetics, Natera

 

Objectives:

At the end of this session, participants will be able to:

  • Summarize how cfDNA/NIPT is being utilized for prenatal screening for twin gestations.
  • State how SNP-based NIPT can uniquely provide additional prenatal screening information to twin gestations.
  • Evaluate clinical experience of SNP-based NIPT for twin gestations.

 

Prenatal genetic screening for twin pregnancies has evolved from the limited option of maternal serum screening to cell-free fetal DNA testing by non-invasive prenatal screening (NIPS). NIPS for twin pregnancies has been available for a number of years; however, SNP-based NIPS was introduced in 2017 with increased capabilities. This session will provide a brief review of the benefits and limitations of prenatal NIPS for twin pregnancies, and elaborate on the unique capabilities of SNP-based twin screening; namely, zygosity determination, individual fetal fraction, and individual fetal sex.

 

Presented by

LifeLabs

 

Back to top

 

 

Hearing Loss in a Genetic World
Friday October 12, 7:00 – 8:15 a.m.

 

Speaker: Khalida Liaquat, MS, LCGC, Genomic Service Specialist, Quest Diagnostics

 

Objectives:

At the end of this session, participants will be able to:

  • Describe the genetic forms of hearing loss.
  • Discuss when genetic testing for hearing loss should be considered and which tests to consider.
  • Describe advantages to understanding patient’s genetic etiology.

 

This presentation will provide background information on the genetic forms and causes of hearing loss and recent updates on the role of genetics. There will be a focus on how genetic testing can benefit molecularly diagnosing hearing loss. Discussion will include the role of genetic testing in a patient’s workup and management.

 

Presented by

Quest Diagnostics

 

Back to top

 

 

Returning Findings to Participants in Large Scale Genomics Projects
Friday October 12, 7:00 – 8:15 a.m.

 

Panelists:
W. A. Andrew (Andy) Faucett, Professor, Director of Policy and Education, Geisinger
Allison Hazell, Clinical Director Genetics, Medcan
Molly McGinniss, MS, LCGC, Senior Market Development Manager, Illumina

Moderator: Fanny Coron, M.Sc., Lead Genetic Counselor, Sequence Bio

 

Objectives:

At the end of this session, participants will be able to:

  • Describe how best to apply ACMG and other evidence-based guidance in large scale projects.
  • Compare approaches to generating and communicating findings to project participants and clinicians.

 

Leading experts from MEDCAN, Geisinger and Illumina will participate in a panel discussion moderated by Fanny Coron, Sequence Bio’s Lead Genetic Counselor. The panelists will discuss their experience returning genetic findings to unselected or “healthy” participants in large scale screening projects. How did they decide what to return? How did they translate research results to clinical findings? What benefits did participants experience? How did they work with primary care providers to understand and follow up on the findings?

 

Presented by

Sequence Bio

 

Back to top

 

 

Optimization of Whole Exome Sequencing to Boost Diagnostic Yield in Rare Disease Diagnostics
Saturday October 13, 7:00 – 8:15 a.m.

 

Speaker: Tero-Pekka Alastalo, MD, PhD, Chief Medical Officer, President & Co-Founder, Blueprint Genetics

 

Objectives:

At the end of this session, participants will be able to:

  • Describe WES technology and explain its correct use.
  • Evaluate the technical performance and quality of the offered WES strategy.

 

Whole exome sequencing (WES) based genetic testing has become a powerful diagnostic tool for clinicians working with rare disease patients. Despite technological breakthroughs, WES testing presents numerous challenges for laboratories and clinical interpretation teams. These challenges significantly impact how well the laboratory can provide diagnostics for a patient. There are numerous ways laboratories can adjust and optimize their WES testing. In addition, clinical interpretation strategies can differ dramatically. Our talk will focus on describing WES technology and its correct use. It will highlight technical strategies that enable higher diagnostic yield from laboratory, bioinformatics, and interpretation perspective. It will also describe how clinicians can evaluate technical performance and quality of the offered WES strategy. Patient examples will be used to describe the utilization of WES testing and to describe the challenges involved. Blueprint Genetics’ experiences with WES testing among rare disease patients will be summarized.

 

Presented by

Blueprint Genetics

 

Back to top

 

 

Taking the Crisis Out of a Neonatal Crisis
Saturday October 13, 7:00 – 8:15 a.m.

 

Speaker: Harriet Druker, MSc, MBA, Genetic Counsellor, Regional Account Manager for Eastern Canada & Michigan, PreventionGenetics

 

Objectives:

At the end of this session, participants will be able to:

  • Identify in which cases a large genetic panel should be considered for neonates in crisis.
  • Examine potential benefits and limitations of genetic testing in this population.

 

Monogenic diseases are frequent causes of neonatal morbidity and mortality. Such diseases account for ~20% of infant deaths and ~18% of pediatric hospitalizations. Disease presentation is often broad and non-specific. Because disease progression is extremely rapid, albeit heterogeneous, in newborns, molecular diagnoses in the NICU is becoming seen as a beneficial first-line test. A case example will outline how a comprehensive molecular diagnosis allowed for early intervention for a neonate in crisis, allowing for appropriate and early intervention and proper genetic counselling of the family. This early diagnosis and treatment significantly reduced the stress and anxiety associated with having an unwell newborn.

 

Presented by

Prevention Genetics

 

Back to top