Designing Carrier Panels with Clinical Actionability in Mind
Written by our intern, Abigail Hodges, a biotechnology major at James Madison University with plans to apply to genetic counseling programs this year. Abigail brings a sharp eye for research and a passion for genetics to her work, translating complex topics into clear, meaningful insights. She shares Modern Reproduction’s mission to make reproductive genetics approachable and empowering for all.
Over the last few months, I have been working on a project that involves researching genetic conditions commonly examined in carrier screening tests. The goal of this research was to find conditions for which some sort of treatment can be administered in utero or directly after birth. As someone passionate about helping people make informed decisions, I believe this information has the ability to make an impact on how individuals approach prenatal genetic testing.
Historically, carrier screening’s main focus was to identify couples at risk for having an affected pregnancy and this was done through ethnicity based screening to be as cost effective as possible. For example, if an individual was of Ashkenazi Jewish descent, they would be recommended to be screened for Tay-Sachs disease. While this method was effective for the intended populations, there was a lack of diagnoses for those who did not belong to that certain ethnic group.
Now, there is the option for carrier screening to be panethnic, meaning anyone can be tested for any condition that is offered on the screen, which has led to more widespread detection of these conditions. Some of the most common conditions that are included on these carrier screens are: Cystic Fibrosis, Spinal Muscular Atrophy, and Sickle Cell Anemia. More recently, there has been the implementation of expanded carrier screening (ECS) which can screen for autosomal recessive conditions as well as X-linked conditions that were not traditionally offered on carrier screening (Gregg., et al 2021).
Organizations such as the American College of Obstetricians and Gynecologists, American College of Medical Genetics and Genomics, and the National Society of Genetic Counselors have their own recommendations for what conditions should be on the carrier screening panels. However, carrier screening is very versatile. The conditions that are included on the screen varies from lab to lab, with each lab having a variety of options for the provider to choose from. For example, one lab currently has seven different panels, each of them containing different amounts of conditions that are tested for. This gives the health care provider the option to choose the screening panel that is best fitted for their patient’s needs.
The criteria for this list were created based on conditions that have immediate actionability, in utero or immediately after birth. Currently, no in utero therapies have fully completed the approval process; most are still in the phase where they are being tested on human participants. This list differs from others lists that have been created because it does not include any clinical trials/treatments that have not been FDA approved or are currently emerging. Thus, these are conditions that can change how a pregnancy is managed or how the newborn is cared for from day one.
This list was designed to answer the frequently asked question in prenatal genetics, “Based on these results, would there be anything that we would do differently to help the baby while pregnant, if we would not consider termination?”. Some people only want information that could directly impact the management of their pregnancy. In that case, they may opt for carrier screening and, if indicated, a subsequent diagnostic test. Carrier screening alone cannot provide a diagnosis. It only identifies whether there is an increased risk for certain conditions.
A recent publication in The American Journal of Human Genetics titled, “Advancing precision care in pregnancy through a treatable fetal findings list” has a similar intention with its list. Their criteria was a bit different because it looked at conditions that can be detected via genomic sequencing for a prenatal diagnosis, not via a carrier screen. They include a section that lists the current in utero treatments that are currently in clinical trials as well as conditions that have therapies that are available and can be administered within the first week of life.
After diving into numerous research papers and sources to learn about common conditions that are included on carrier screening panels as well as newborn screening tests, I narrowed the list down to conditions that only have immediate actionability. For a lot of conditions that I came across, there would be treatments that could be administered further into development. For example, in Sickle Cell Anemia, a gene therapy called Hydroxyurea begins to be administered around 9 months of age to reduce pain episodes; however, for this list, we are focusing on any treatments that can be administered in utero or shortly after birth.
Why This Matters
Carrier screening is typically offered to anyone considering or is currently pregnant; although in the space of assisted reproductive technologies, it is also performed for egg and sperm donors. The goal of a carrier screen is to inform individuals if there is an increased chance of having a pregnancy with an inherited genetic condition. This list aims to highlight that early knowledge of a potential genetic condition can help care for the pregnancy as well as ensure that the newborn has access to the right care from day one.
Latest in Genetics
On July 10th, 2025, Florida passed a bill called the Sunshine Genetics Act. This created a 5 year pilot program led by the Florida Institute for Pediatric Rare Diseases at Florida State University. This pilot program introduces a new opportunity for newborn screening to include whole genome sequencing. The goal of this legislation is for families to have a genetic diagnosis early on, so that treatment can be implemented as early as possible.
Additionally, North Carolina has a research study called Early Check which began in 2018. This study originally offered the ability to screen for a few more genetic conditions that were not offered on the Newborn Screen such as Fragile X. However, in 2023 this research study introduced the option to include a whole genome sequencing panel which includes over 200 genetic conditions that can be tested for free. This genetic test uses the same sample from the Newborn Screening test, so parents do not have any additional appointments or samples that are needed. Both of these programs share an emphasis on early detection of genetic conditions, which can lead to earlier diagnosis, preventative care, and implementation of treatment (“How early check works”, 2023).
The discussion of which conditions we should test for is not new. It’s an ongoing investigation, especially as the ability to test for more conditions becomes feasible and cost effective. While this panel focuses on actionability given the question from patients, this still likely does not capture all the appropriate conditions. Additionally, this panel may not be appropriate for a gamete donor or a couple pursuing IVF as the considerations differ from someone currently pregnant, which is so often when people get this testing done, despite it being ideally performed prior to pregnancy.
Are there any other conditions you’d include?
*email genetics@modernreproduction.org for the links to the conditions - we had to upload the tables as pictures.
Sources
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* This blog constitutes general information about genetic testing and medical screening. This blog does not offer or provide medical advice or diagnosis, and nothing in this blog should be construed as medical advice or diagnosis. Do not rely on the information in this blog/article to make medical management decisions. Please consult with a medical professional before making those decisions. Do not delay in seeking professional medical advice if you think you have a medical concern. Do not disregard professional medical advice based on any information received in this blog.
