Her Story
About Annette
Dr. Annette Leon is a board-certified Medical Geneticist (ABMGG) and Fellow of the American College of Medical Genetics and Genomics (FACMG) with nearly 20 years of experience in medical genetics and laboratory medicine. She currently serves as Laboratory Director at Hematogenix, where she oversees laboratory operations, ensures quality and proficiency of all testing, and participates in the interpretation and clinical sign-out of patient reports that guide physician decision-making. Her daily work spans oncology and hereditary disorders, impacting patients across the full lifespan from prenatal care to elderly populations with a consistent focus on delivering accurate, meaningful, and clinically actionable genetic insights.
Originally from Cuba, Dr. Leon came to the United States in 2001, bringing with her a bachelor’s degree in biochemistry and a master’s degree in biotechnology of proteins from the University of Havana. She later earned a PhD in Biophysics and Computational Biology from the University of Illinois at Urbana-Champaign and completed fellowship training in Clinical Molecular Genetics, Genomics, and Clinical Cytogenetics at Harvard Medical School. This multidisciplinary training has shaped her distinctive approach to genetic diagnosis, combining deep scientific expertise with clinical application to advance precision medicine.
Throughout her career, Dr. Leon has been a pioneer in the development and application of emerging technologies in genetic diagnostics, including next-generation sequencing, bioinformatics, and artificial intelligence for clinical interpretation. She has held senior leadership roles across organizations such as Fabric Genomics, GeneDx, and Sema4, driving innovation in diagnostic product development and genomic health. In addition to her laboratory leadership, she actively contributes to national and international standards through organizations including the Association for Molecular Pathology and the American College of Medical Genetics and Genomics, where she serves on working groups that establish best practices in medical genetics. Her work is grounded in a commitment to patients, with the guiding belief that maintaining current knowledge is essential to providing safe, accurate, and effective care.
Her Interview
Ten minutes with Annette
01What do you attribute your success to?
I attribute my success to a combination of resilience, a strong scientific foundation, and a deep commitment to purpose-driven work centered on improving patient care. Originally from Cuba, I came to the United States in 2001 after completing a bachelor’s degree in chemistry and a master’s degree from the University of Havana, experiences that established my rigorous academic training and determination to excel. Over more than two decades in medical genetics, I have remained guided by the principle that every scientific advancement should ultimately serve patients and families seeking answers. I earned a PhD in Biophysics and Computational Biology from the University of Illinois and completed advanced clinical genetics training at Harvard Medical School, which further strengthened my ability to bridge research and clinical practice. In my current role as a board-certified medical geneticist and laboratory director, I focus on advancing precision medicine through diagnostic innovation, oncology and hereditary disease expertise, and the integration of emerging technologies such as bioinformatics and artificial intelligence, all while remaining grounded in integrity, collaboration, and patient-centered care.
02What’s the best career advice you’ve ever received?
The best career advice I’ve ever received has come from a combination of experience and the guidance of exceptional mentors, including Dr. Heidi Rem, Dr. Azraligan, and Dr. Frederick Beiber. Their mentorship has been instrumental in shaping my professional development and reinforcing the importance of continuous curiosity, unwavering integrity, and meaningful collaboration. I have carried these lessons throughout my career, and they continue to guide my decisions and commitment to excellence in all that I do.
03What advice would you give to young women entering your industry?
I would say to be flexible, to continue learning, and to be persistent. In genetics, we constantly have to be learning all the new science and all the new technology. Ultimately, we are serving our patients, so if we don't have our knowledge current, we can hurt our patients. It's important that we stay very current and that we maintain all that flexibility in terms of learning and continuing, extending and applying that knowledge to our practice. That has been my mantra - every time I read an article, I'm thinking about how can I use this information to what we are currently doing in the laboratory, and if I find a way, it's normally a win-win for everybody. That's what I will say to somebody coming into the field.
04What values are most important to you in your work and personal life?
I feel that knowledge needs to transition to the next generation, and I would love to be able to continue learning and transitioning knowledge to the next generation. As I become older, I want to be able to step back and be more like an advisor to a person who is younger, has more energy, and can take all this knowledge and improve from there. Building the newer generation in the proper way is very important for individuals in my field. I don't chase personal recognition, because I feel like that comes naturally when you're able to do something that is relevant. I always try to put all my effort on my work, because my work will speak about me, and I think that's the recognition that I get every day from my colleagues and from people that work under me - they feel they can trust me. It's also about brands and building trust. When somebody wants to work with me, I am happy to feel like they trust my expertise, my advice, my decisions, and that I'm able to build things that has that trust, and also that I can rely on them as well. I am an animal lover and donate to organizations that help animals of any kind, including the Humane Society, ASPCA, and PETA, as they take care of animal welfare.
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