Talk: Whole Exome Sequencing for Rare Pediatric Diseases
Jun 27, 2018
In his presentation, Chief Medical Officer Tero-Pekka Alastalo explains how to navigate the complex world of Whole Exome Sequencing.

Rare disease patients are often trapped in a never ending “diagnostic odyssey.” Uncertainty surrounding a diagnosis can be extremely painful for a patient, their family, and healthcare providers. Through the utilization of Whole Exome Sequencing (WES), a definitive diagnosis can be reached resulting in tailored disease management and treatment options for the patient.

Unfortunately, rare disease diagnostics is often a search for the right needle in a very large haystack. This search is further complicated by a lack of transparency among labs. NGS technologies can harbor significant challenges that affect a lab’s ability to maximize diagnostic yield and potentially risk a patient’s successful disease management. To increase the likelihood of an accurate diagnosis, it is vital for healthcare professionals to understand the key elements of a high-quality Whole Exome Sequencing platform.

Description of Program Content:

During his presentation, “Utilization of Whole Exome Sequencing for Genetic Diagnostics of Rare Pediatric Diseases”, at the Canadian Pediatric Society’s Annual Conference, Dr. Tero-Pekka Alastalo, MD, PhD, outlined strategies used to identify high-quality WES platforms and presented patient cases which illustrate examples of an effective and high-quality WES.

Key points:

  • All WES tests are not equal- know your test before you utilize it.
  • Due to a lack of transparency, there is a dark side to genetic diagnostics.
  • A WES platform’s quality and performance will significantly affect the diagnostic yield.

Read more about Blueprint Genetics’ innovative Whole Exome Sequencing options here.


Tero-Pekka Alastalo

Tero-Pekka is the Executive Director of Medical, and also a co-founder at Blueprint Genetics. He is based in San Francisco and holds various responsibilities in the North American operations of the company. Tero-Pekka has an MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular disease.

Last modified: October 29, 2020