Unlocking Diagnoses Sooner: The Power of Proactive Exome Reanalysis with Patient for Life™ with Kelly Hagman, MS, CGC, LGC & Meghan Towne, MS, CGC, LGC

• While the benefits of exome reanalysis have been widely proven, there are no set guidelines or standard practices for laboratories. Traditional exome reanalysis models often rely on one-time, clinician-initiated requests—typically two years after testing or when symptoms change. But with gene-disease associations evolving rapidly, this approach can delay or miss critical diagnoses. Ambry Genetics’ Patient for Life program offers a proactive, expert-led alternative. By continuously reevaluating exome data in light of new discoveries, patients benefit from up-to-date insights—without needing a reanalysis request. 

  Objectives: 

  1. Describe the key features and clinical benefits of Ambry’s Patient for Life program for proactive exome reanalysis. 

  2. Interpret recent research data demonstrating the diagnostic value of ongoing, expert-led reanalysis compared to traditional models. 

  3. Discuss how continuous, evidence-prompted exome reanalysis supports earlier diagnoses, reduces provider burden, and enhances long-term patient care. 

  *CEU credit is not available for this webinar.*

Kelly Hagman, MS, CGC, LGC | Presenter

VP, Medical Affairs at Ambry Genetics

Kelly Hagman is driven by a passion for advancing genomic medicine through evidence and strategy, making her an ideal fit for her role as Vice President of Medical Affairs at Ambry Genetics. In this position, , Kelly established the company’s first Medical Affairs department, uniting clinical leaders and driving long-term strategic planning. Kelly oversees teams spanning Clinical Strategy, Clinical Research, Education, and our field-facing Genomic Science Liaisons ensuring clinical strategy enhances innovation and industry engagement. With over 25 years of experience in the clinical laboratory industry and over 50 peer-reviewed publications, Kelly has led transformative initiatives, including launching the industry’s first clinical exome and co-authoring ACMG/AMP guidelines, demonstrating a sustained commitment to advancing genomic medicine.

Meghan Towne, MS, CGC, LCGC | Presenter

Genomic Science Liaison II, Rare Disease at Ambry Genetics

Meghan attended Boston University School of Medicine for her graduate studies in Genetic Counseling. Her studies piqued her interest in the impact of innovative technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked for seven years at Boston Children’s Hospital developing the institutional infrastructure for genomic sequencing and new gene discovery before joining Ambry in 2016. She has held several roles at Ambry including Exome Reporting, Clinical Research Investigator, and is currently on the Rare Disease Genomic Science Liaison team where she supports clinical education about rare disease testing options.

Laura Amendola, MS, CGC | Moderator

Clinical Strategy Manager at Ambry Genetics

Laura Amendola works in clinical strategy at Ambry with a focus on rare disease and is passionate about integrating scalable genomic testing into clinical practice. She started her career as a clinical genetic counselor and then spent almost a decade in academia as part of NIH-funded research consortia evaluating the clinical integration of genomic sequencing. Prior to joining Ambry, Laura led genome screening initiatives in the Medical Genomics Research group at Illumina, Inc. and worked with the Clinical Sequencing Program at the National Institute of Allergy and Infectious Disease. Laura has published extensively on a range of topics in genomic medicine and contributed to the genetics community through her volunteer work with NSGC and ACMG.