Breakfast Sessions

THURSDAY NOVEMBER 3

7:30 – 8:30 a.m. | Breakfast Session: Testing for Hereditary Cancer Syndromes: Beyond HBOC and Lynch Syndrome

Sponsored by Quest Diagnostics

 

FRIDAY NOVEMBER 4

7:00 – 8:30 a.m. | Breakfast Session: Insights into Hypophosphatasia: Clinical Features of a Rare Disease

Sponsored by Alexion Pharma Canada

 

SATURDAY NOVEMBER 5

7:30 – 8:30 a.m. | Breakfast Session: Selecting the Optimal Genetic Test for your Patient

Sponsored by Blueprint Genetics

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Testing for Hereditary Cancer Syndromes: Beyond HBOC and Lynch Syndrome
Thursday November 3, 7:30 – 8:30 a.m.

 

Presented by

Quest Diagnostics

 

Speaker: Dr. Felicitas L. Lacbawan, MD, FCAP, FACMG, Medical Director, Genetics, Quest Diagnostics Nichols Institute

 

Objectives:

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

  • Review the mechanism of cancer development and clinical presentations.
  • Explain the rationale of hereditary cancer panels.
  • Describe an overview of gene content of test panels and sequencing technology.

 

Cancer moonshot projects are geared towards fulfilling the practice of precision medicine. Proper genetic testing for hereditary cancer syndromes will greatly impact clinical management. This session will review the mechanisms of cancer development and the spectrum of clinical presentations of hereditary cancers. An overview of the gene content and the rationale behind multi-gene panel testing will be discussed. Furthermore, a meaningful interpretation of results can be made if the sequencing technology employed is well understood.

 

Click here to RSVP

 

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| Breakfast Session: Insights into Hypophosphatasia: Clinical Features of a Rare Disease
Friday November 4, 7:00 – 8:30 a.m.

 

Presented by

Alexion Pharma Canada

 

Speaker: Dr. Peter Kannu, MBChB, PhD, DCH, FRACP, HGSA, Clinical and Metabolic Genetics, The Hospital for Sick Children

 

Objectives:

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

  • Increase the understanding of the etiology and clinical presentation of hypophosphatasia (HPP).
  • Describe the diagnostic criteria required to confirm a case of HPP, and discuss the importance of family testing.
  • Understand the heterogeneity of HPP, through case study presentation.

 

Hypophospatasia (HPP) is a genetic condition affecting bone mineralization resulting in skeletal and systemic complications. Both heterozygous and homozygous mutations are associated with the disease. The phenotype varies in severity from the severely undermineralised fetus, to children with multiple fractures and pain, to patients which report premature tooth loss. A low to absent serum alkaline phosphatase level should prompt one to consider the diagnosis of HPP. Until recently, the more severe presentations were lethal due to significant respiratory compromise and treatment was supportive. The introduction of a clinically approved bone-targeted, human recombinant TNSALP fusion protein, asfotase alfa, will alter the natural history of this potentially devastating, and progressive disease. In this presentation, we will review the utility of enzyme replacement, which is administered subcutaneously and associated with a marked improvement in mineralization, respiratory function and mobility.

 

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Selecting the Optimal Genetic Test for your Patient
Saturday November 5, 7:30 – 8:30 a.m.

 

Presented by

Blueprint Genetics

 

Speaker: Dr. Tero-Pekka Alastalo, MD, PhD, Blueprint Genetics

 

Objectives:

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

  • Define the limitations in current genetic testing technologies.
  • Identify the best genetic test in different clinical scenarios.
  • Construct solutions for overcoming limitations in genetic testing.

 

This session will discuss the challenges presented in selecting genetic testing strategies with case examples used to illustrate how to optimize this process. The current limitations of genetic testing strategies and how to recognize them as well as how to overcome them will also be discussed.

 

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