Inborn errors of immunity (IEIs; previously primary immunodeficiencies) are a growing group of genetic disorders that impair the immune system’s normal functions. These disorders often present with overlapping and non-specific clinical symptoms, which can prolong the diagnostic odyssey and complicate management decisions. Genetic testing has emerged as an ideal tool for identifying an accurate diagnosis more quickly. Once identified, genetic results often enable clinicians to better tailor the treatment of their patients through a gene-specific therapy, established management guides, or entry into a clinical trial.
As the use of genetic testing becomes more routine in the workup for IEIs, it is important for providers to know the types of tests available and the technical components that maximize diagnoses. In this webinar, Clinical Genomic Liaison Torry Howell, MS, CGC will review the use of genetic testing in IEIs and advise on how to maximize quality and patient care when ordering genetic testing.
- Review inborn errors of immunity and data supporting the diagnostic utility of genetic testing
- Discuss available genetic testing and considerations when ordering
- Demonstrate how a genetic diagnosis can directly impact patient treatment decisions
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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.