Innovation in Every Strand: Maximizing Clinical Utility with Strategic Test Design

Description
The presentation emphasizes the importance of maximizing clinical utility through strategic test design. This involves a comprehensive approach to developing tests that are both effective and efficient. The presentation also highlights the critical role of gene-disease validity and variant interpretation in genetic testing. Strong evidence is necessary to make clinically meaningful conclusions and determine variant pathogenicity. We will discuss the importance of pipeline and operational efficiencies in genetic testing. This includes optimizing workflows and integrating new tests into existing lab operations while maintaining clinical excellence. Finally, the presentation looks ahead to the potential of long-read sequencing, which offers advantages over short-read sequencing in various applications such as structural variants, methylation testing, and repeat expansion testing.

Level of Instruction
Intermediate - Refresher course; some basic knowledge of subject recommended

Learning Objectives

1. Explain how strategic test design, gene-disease validity, and evidence-based variant interpretation contribute to the clinical utility of genetic testing.
2. Identify methods diagnostic labs can take to improve pipeline and operational efficiencies when integrating new genetic tests into existing laboratory workflows.
3. Differentiate the capabilities of long-read sequencing from short-read sequencing, particularly in detecting structural variants, methylation patterns, and repeat expansions.

Course summary
Available credit: 
  • 0.10 NSGC CEU
  • 1.00 PACE Contact Hour
Course opens: 
11/19/2025
Course expires: 
11/18/2027
Cost:
$0.00

 

Presenter: Tina Pesaran, MA, MS CGC

Vice President of Genomic Science at Ambry Genetics

Tina Pesaran is a seasoned genomic science leader with over 20 years of experience in clinical genetics, variant interpretation, and strategic program development. As Vice President of Genomic Science at Ambry Genetics, she oversees a multidisciplinary team driving advancements in variant and gene assessment, medical informatics, and computational biology. Tina has been instrumental in shaping Ambry’s classification frameworks, scaling operations, and guiding industry standards through cross-functional leadership and evidence-based genomics.

Presenter: Tara Namey, MS LCGC

National Medical Affairs VP at Ambry Genetics

Tara Namey is a highly accomplished genetic counselor with extensive experience in genetic counseling and medical affairs. Currently, Tara serves as the National Medical Affairs VP at Ambry Genetics, where she has been since August 2022. In this role, she leads a team of Genomic Science Liaisons, supports business development, and coordinates major company initiatives. Tara has also held positions as a Senior Genomic Science Liaison – Oncology and Manager of the Cancer Risk and Genetic Assessment Program at Lehigh Valley Health Network. Her work has involved educating clients, developing clinical presentations, and managing genetic counseling programs. Her dedication to improving patient care and advancing the field of genetic counseling is evident in her extensive experience and leadership roles.

Moderator: Connolly Steigerwald, MS CGC

Genomic Science Liaison at Ambry Genetics 

Connolly Steigerwald MS, CGC is a Genomic Science Liaison at Ambry Genetics. She is certified by the American Board of Genetic Counseling and earned her MS in Genetic Counseling from Columbia University in New York City. She previously worked as a clinical genetic counselor within the Lysosomal Storage Disorders Program and Division of Neurogenetics at NYU Langone Health. Her clinical and research interests have spanned lysosomal storage disorders, adult-onset neurodegenerative disease, and predictive genetic testing.   

 

 

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EducateNext is committed to providing independent, objective, and evidence-based educational content. None of the individuals in control of this content—including our planners, reviewers, and approval faculty—have any financial relationships with ineligible companies to disclose. For all educational sessions, speaker-specific disclosures regarding any potential conflicts of interest are required and will always be shared directly with learners at the beginning of their respective presentations.

Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Programs.

 

Available Credit

  • 0.10 NSGC CEU
  • 1.00 PACE Contact Hour

Price

Cost:
$0.00
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