Conversations with clinicians, laboratory directors, payers, genetic counselors, and policy professionals.
"This series examines how carrier screening fits within existing medical infrastructure and what it could look like in the future."
Heterozygous is an independent interview series focused on understanding how carrier screening fits within the real-world U.S. healthcare system.
At its core, the project begins with a simple premise: access to accurate genetic information can help individuals better understand their reproductive risks. This information can expand available options, including specialized prenatal care and the opportunity to prepare for a child with complex medical needs. However, carrier screening is not consistently offered in clinical practice1, despite recommendations from professional societies such as ACOG and ACMG, and insurance coverage varies widely. This gap raises important questions about how and why screening is implemented within the healthcare system.
Through conversations with clinicians, laboratory directors, payers, genetic counselors, and policy professionals, this series examines how carrier screening fits within existing medical infrastructure and what it could look like in the future. These discussions explore key factors, including regulatory frameworks, insurance coverage, clinical workflow, workforce capacity, ethical considerations, and inequities in access.
1. Practical implementation of ACOG and ACMG carrier screening guidelines at a single academic medical center. Genetics in Medicine Open, 2025.
Each episode features a conversation with an expert in genetics, clinical practice, policy, or healthcare administration — exploring their perspective on the evolving landscape of carrier screening.
Episodes coming soon
New conversations will appear here
Hi, my name is Mark Colt. I have a PhD in neuroscience from the University of Southern California, where my research focused on identifying molecular and cellular mechanisms underlying Fragile X syndrome, the most common inherited cause of intellectual disability.
I became interested in carrier screening before my daughter was born. I was surprised to learn that while routine prenatal screening for chromosomal conditions like Down syndrome is standard practice, carrier screening for inherited single-gene disorders is far less consistent. Professional societies recommend screening for at least a core set of conditions including cystic fibrosis, spinal muscular atrophy, and sickle cell disease, yet even this is not reliably offered in practice, and the broader landscape of disorders that expanded panels can detect remains largely outside routine care.
In my own experience, carrier screening wasn't offered before or during our pregnancy. Later on, our healthcare provider declined to order a panel after we offered to pay out-of-pocket, specifically due to concerns that they could get charged for the test. I found it surprisingly difficult to access carrier screening as a patient, given that the technology is widely available and sample collection is straightforward.
To be transparent, I believe that expanded carrier screening could benefit families by providing more information about their genetic risks. At the same time, I recognize that I don't fully understand the regulatory, economic, and clinical tradeoffs involved. This series is an attempt to find out by talking to experts who work inside the system and staying genuinely open to what their perspectives reveal.
If you're interested in participating, get in touch. Episodes are approximately 45 minutes long and released as video recordings with an edited transcript.
mark@heterozygous.org