Date: May 7, 2025
Time: 5:00 PM CEST
In the diagnosis of inborn errors of immunity (IEIs), previously called primary immunodeficiencies, genetic testing is a powerful tool that enables clinicians to expedite understanding of disease etiology and better tailor patient treatment. Because there are more options for testing than ever before, it is important for providers to understand the types of tests available and the lines of evidence that contribute to variant classification. In this webinar, geneticist Anni Niskakoski, PhD, and genomic science specialist Torry Howell, MS, CGC, will review the use of genetic testing in IEIs and the importance of a robust variant curation process to maximize genetic testing results quality and subsequent patient management.
Webinar objectives
- Review the diagnostic utility of genetic testing for inborn errors of immunity
- Discuss the various lines of evidence used to inform variant classification and disease association
- Demonstrate how a genetic diagnosis can direct patient management
Speakers
Anni Niskakoski
Anni Niskakoski, PhD, is a senior geneticist at Blueprint Genetics, specializing in interpretation of immunology and cancer panels and whole exome sequence data. She is also a manager in the Clinical Interpretation team. She has a background in research. Anni has an MSc degree in genetics and received her PhD in medical genetics from the University of Helsinki, Finland in 2018.
Torry Howell
Torry Howell, MS, CGC is a clinical genomic liaison at Blueprint Genetics. She received her Bachelor of Science in Biology from Boston College in Boston, Massachusetts and her Master of Science in Genetic Counseling from the University of Texas and MD Anderson Cancer Center in Houston, Texas. She is certified by the American Board of Genetic Counselors. Prior to joining Blueprint Genetics in 2022, she worked as a genomic science specialist for Quest Diagnostics in Marlborough, Massachusetts and as a genetic counselor in a hereditary oncology clinic at Scripps Memorial Hospital in La Jolla, California.
More details here