Chris Evert, a name synonymous with tennis excellence, has navigated many challenges both on and off the court. Her life, marked by incredible achievements in tennis, took a profound turn with her battle against ovarian cancer. Evert’s journey from a champion athlete to a cancer survivor brings to light the importance of genetic testing and early detection, offering a beacon of hope and inspiration to many. Chris Evert’s name is etched in the annals of tennis history. With 18 Grand Slam singles titles and a record seven French Open titles, her dominance in the sport is undisputed. Off the court, Evert is known for her philanthropic efforts and contributions to sports journalism. She transitioned seamlessly into a commentator role, providing insights and analysis that only someone of her caliber could offer. However, despite her public persona of strength and control, Evert faced a personal battle that would test her resilience like never before. Evert’s battle against cancer began po...

MAVEs to the rescue in the fight against breast cancer In honor of breast cancer awareness month, we’d like to dedicate this post to exploring how MAVEs can ensure that breast cancer is detected as early as possible. A study estimated the national cost-savings in the United States from early cancer diagnosis at $26 billion per year 1 . If you are not yet familiar with MAVEs (Multiplexed Assays of Variant Effect), you can check out our previous two blog posts ( Introduction to MAVEs and Opportunities and Challenges to Using MAVEs for Clinical Variant Interpretation ) that give an overview of the topic. In short, MAVEs are experiments that enable large-scale collection of information on the clinical impact of thousands of genetic variants found in the human population. How can such information help to ensure early detection? You may be aware of BRCA1 and BRCA2, the two most notorious breast cancer risk genes. In the almost 30 years since their discovery 2,3 , variants of BRCA1...

  MAVEs for clinical variant interpretation – opportunities and challenges In our last blog post , we introduced Multiplexed Assays of Variant Effect (MAVEs) and gave an overview of how they can be applied towards clinical variant interpretation. In this post, we will highlight some of the opportunities and challenges that arise from working with this valuable and complex source of information. As you’ll see, MAVEs play an important role in resolving VUS, often making the difference between a VUS and a definitive benign or pathogenic classification 1 . Nevertheless, they are widely underutilized due to challenges of data curation and analysis, evaluation of assay quality, and conversion of data into evidence that can be applied within the variant classification framework set forth by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) 2 . Let’s start with opportunities. Opportunities Proactive evidence on a ma...

What are MAVEs and how can they be used in clinical variant classification? Multiplexed Assays of Variant Effect (or MAVEs) are a type of functional evidence that can be applied within the ACMG/AMP framework for classifying genetic variants. In this post, we cover what you need to know to start applying MAVEs to your genetic variant classification workflows. What is functional evidence? Functional evidence in the context of genetic variant classification is empirical data that provides insights into the role and impact of specific genetic variants. This type of evidence is collected using model systems, such as cell cultures, yeast, or animal models, during controlled laboratory experiments. Scientists perform these experiments to understand how a genetic variant affects the function of a gene or gene product. For example, if a particular genetic variant is suspected to cause a disease, researchers might create a model system that carries this variant and then observe the sy...

We recently presented at the VICC's VMTB. Thanks to the VICC for the opportunity to present and for the lively discussion. Check out the video on our Webinars page!