How to Solve Challenging WES Cases: Atypical Positive Results
Feb 17, 2022
Webinar information
Date: March 16, 2022
Time: 9:00 AM PST / 17:00 CET
Duration: 1 hour
C.E.U: -
Speaker: Rachel Goldberg, Kirsty Wells

Date: March 16, 2022
Time: 9:00 AM PST / 17:00 CET

Whole Exome Sequencing (WES) is an effective diagnostic tool for patients with complex genetic disorders, but even positive test results may not always be what the healthcare provider was expecting. Occasionally, we find an atypical positive result, one that requires additional explanations and visual aids to explain to patients. What can laboratories do to detect these atypical positives? What questions and concerns might come up and how can these be addressed? 

During this webinar, Senior Geneticist Kirsty Wells, PhD, and Genetic Services Consultant Rachel Goldberg, MS, CGC, will discuss recent challenging WES cases with atypical positive results and the Blueprint Genetics team’s tailored approach to tackling these. Through these examples, we explore both the clinician and interpretation team’s perspective, as well as demonstrate the power of high-quality testing that has the ability to capture the full spectrum of disease-causing genetic variation. 


Patient WES cases include:  

  • An adult patient with intellectual disability, anemia, retinitis pigmentosa 
  • A child with bilateral radial anomalies, and negative TBX5 sequencing results at an outside lab 
  • A child with motor and speech delay, ADHD, joint hypermobility, and hypoplasia of the distal phalanges 
  • A child with global developmental delay, hypotonia, neonatal seizures, hyperlaxity, ptosis. Patient’s sibling is also affected

Webinar objectives:  

  • Share unique cases that are less commonly found as results of whole exome sequencing 
  • Discuss how WES can be tailored to detect these atypical positive results 
  • Provide the clinician and geneticist’s interpretation perspectives when receiving and giving an atypical positive result for a patient 
  • Describe the importance of understanding a laboratory’s methods for interpretation of NGS data and how different methods can result in missed diagnoses 



>View How to Solve Challenging Cases, part I, part II, part III, and part IV


Kirsty Wells

Kirsty Wells, PhD, is a Senior Geneticist at Blueprint Genetics, specializing in interpretation of ophthalmology panel and whole exome sequence data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, Kirsty completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Kirsty is a UK-certified Clinical Scientist.

Rachel Goldberg

Rachel Goldberg, MS, CGC, attended graduate school at Long Island University (MS in Genetic Counseling). She previously worked as a pediatric, adult, and laboratory genetic counselor in both direct and non-direct patient care roles. Currently, she is a Genetic Services Consultant at Blueprint Genetics based in Seattle, WA.

Last modified: March 18, 2022