Behind the Scenes: What it Actually Takes to Make a Genetic Test
Jun 26, 2019
Webinar information
Date: June 24, 2019
Time: 11:30 AM EST / 17:30 PM CEST
Duration: 1 hour
Speaker: Samuel Myllykangas

Date: June 24, 2019
Time: 11:30 AM EST / 17:30 PM CEST

What goes into creating the genetic tests you order? Genetic testing is becoming an integral part of a patient’s diagnostic workup as more and more clinicians are utilizing genetic testing to optimize their patients’ treatment. However, the current genetic testing landscape provides a chaos of opportunities. With countless options to choose from, it can be challenging to determine which genetic test is the best one for your patient.

It is therefore crucial to assess the quality of the genetic test that is being considered:

  • Why does one test cost more than another?
  • What is the difference between 95% and 99.4% coverage (ie, percentage of base pairs or target regions covered)?
  • What does this mean for your patient?

In this webinar, led by Blueprint Genetics co-founder and Chief Strategy Officer Samuel Myllykangas, PhD, the different layers of quality will be evaluated utilizing patient cases analyzed at Blueprint Genetics.

We will review the importance of an analytic validation study, and describe ongoing clinical R&D efforts being put into customized sequencing solutions for difficult-to-sequence regions. We will also illustrate the characteristics of a high-quality clinical interpretation strategy in a field that has a growing need for proficient molecular geneticists and genetic counselors.

This webinar will also provide an overview of the genetic testing industry, including current trends, complexities, and its rapid evolution with an outlook towards where the field’s technological solutions could be headed next.

This educational webinar:

  • Provides a checklist of what clinicians should consider when assessing the quality of a genetic test
  • Outlines what it takes to successfully create a high-quality genetic test in this time of rapid evolution and increasing complexity
  • Discusses the importance of transparency and analytic validation in test performance for different types of variants (ie, SNVs, Indels, and CNVs)
  • Describes the characteristics of high-quality clinical interpretation processes


Unable to attend live? By registering, you will receive a link to a recording of the webinar for you to watch at your convenience.

Blueprint Academy is an educational resource for healthcare professionals, organizations, patients, and the scientific community. We publish informative and empowering content, webinars and white papers from the world of genetics. #geneticknowledge


Webinar video and content: Copyright © 2020 Blueprint Genetics. All trademarks are property of their respective owners.


Samuel Myllykangas

Samuel is the Executive Director of Strategy at Blueprint Genetics as well as a co-founder of the company. He is an expert in genome analysis technologies and has extensive experience in bioinformatics and cancer genomics research. Samuel received his PhD from the University of Helsinki and completed his postdoctoral research at Stanford University. At Stanford, he developed high-throughput sequencing technologies such as Oligonucleotide-Selective Sequencing (OS-Seq™). He is an adjunct professor in genetics at the University of Helsinki, an author of several high-impact publications, and an inventor and patent holder of DNA sequencing methods.

Last modified: October 30, 2020