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.

Utilizing comprehensive NGS sequencing testing can significantly improve our efficacy and capacity to provide a diagnosis for these patients and end the diagnostic odyssey before it starts. – Dr. Tero-Pekka Alastalo

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 chief medical officer, president, and a co-founder of Blueprint Genetics. He is based in San Francisco and in charge of North American operations. He designs diagnostic panels and mutation databases and works with clinical evaluation of genetic data. 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. In 2007, he continued his research at Stanford University, School of Medicine. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular diseases. He continued his cardiovascular research at the University of Helsinki as a principal investigator and the head of an academic research group.

Last modified: 12.14.2018