By Nicole Belles, Chief Product Officer, GeneSprout
Genetic screening, as part of routine childhood preventive care, benefits all children. Especially the small percentage of children living with a genetic condition that goes undetected for years. Parents navigating their child’s health have a long, fragmented journey, involving numerous subspecialists, tests, and misdiagnoses, known as the diagnostic odyssey. Genetic screening can shorten that journey and provide peace of mind to parents, when the benefit is productized through clear decisions around test ordering, payment, privacy, clinical follow-up and reporting. This article focuses on pediatric genetic screening programs offered as a health plan or employer-sponsored benefit.
The caregiver bears the burden of the care coordinator
The pediatric diagnostic odyssey persists not only because rare diseases are clinically complex, but because the healthcare experience is fragmented: multiple doctor visits, repeated tests, inconsistent findings, unclear next steps, delayed answers and a caregiver who becomes project manager. The pediatric diagnostic odyssey creates measurable economic burden in medical spend and it also has substantial employer productivity costs including caregiver presenteeism (i.e., reduced work output) and caregiver absenteeism (i.e., missed work time)[1].
A product focused approach to pediatric genetic screening can reduce time to diagnosis and caregiver strain by designing clearer guidance and ensuring follow-up. Earlier answers matter because they change treatment planning and reduce unnecessary cost, utilization and stress. But early answers on their own do not fix a broken system.
Why genetic screening programs can fail in practice
Genetic screening technology has the potential to revolutionize medical care by providing diagnoses to patients with unexplained symptoms and offering a preventive opportunity by identifying individuals at risk of developing health conditions in the future. For a meaningful minority of children with genetic conditions, early action can prevent or lessen the clinical impact and financial burden.
The myth: access to genetic screening is the hard part. The reality: program operations and member trust determine whether families benefit.
Although many newborn parents express interest in genetic testing for pediatric actionable conditions, many do not pursue it. At one point, a research article on genetic studies looked at why people decline genetic testing and found that logistical barriers (e.g., blood draw, time commitment) were a leading reason[2]. Now, however, genetic screening is as simple as a cheek swab.
Thus, addressing hurdles can drastically increase access. It is essential for stakeholders to understand all decision points including member eligibility, privacy and consent, test ordering, return of the sample, delivery of results and clinical follow-up. These key decision points are where programs succeed or quietly fail.
The Five Key Product Decisions
When productizing any new health plan benefit, there are five key decisions to be made. Here we discuss those decisions in the context of a genetic screening program.
Decision 1: Decide who is eligible for the program
The first decision is to determine who is eligible for genetic screening in the population and how they will access it. For example, many program pilots start with parents of children aged 0 to 5 years, since this is the age range where children most benefit from early intervention. Next, determine if members or their physician, often the pediatrician, can order genetic screening directly.
Decision 2: Define who pays and how
It is important to decide how the tests will be covered. Some programs choose to structure coverage as a preventive-style benefit with low or no cost share, depending on plan design. Payment for screening can be invoiced by a genetic screening vendor on a per test basis (e.g., case rate), adjudicated through the claims process or a hybrid. It is also important to determine which entity owns denial and exception handling.
Decision 3: Design member communications
Settle which entity handles member communications and start designing, ensuring the use of plain language, proper expectation setting, privacy clarity and opt-out. Determine the communication channels that will be used including options such as email, print, co-branded enrollment Website, etc. If a genetic screening partner is handling member communications, ensure your organization has final sign-off by legal, compliance and marketing.
Decision 4: Determine what happens after a genetic finding
Define and document the support for parents and families with a genetic finding. Ensure families can share results with their pediatrician, have access to genetic counseling/rare disease navigation and ongoing surveillance. Both AHIP[3] and the Business Group[4] on Health recommends pairing genetic screening coverage with genetic counseling to help interpret results and facilitate care planning. This is an area where the body of knowledge is changing rapidly, and many busy physicians have a hard time staying current. Therefore, providing easy access to a certified genetic counselor is a critical portion of the solution.
Decision 5: Document what data is exchanged and what to measure
As always, only the minimum-necessary data should be exchanged. Membership data will be needed to determine eligibility; real-time eligibility verification (often via 270 and 271 transactions) is a common approach. Some demographic data will be needed for member communications campaigns. Medical and drug claims data, of those screened, can be used to quantify the program impact on cost, utilization and treatment patterns after it has been implemented for a few years.
Determine the program metrics that will be measured and the cadence of reporting to ensure proper monitoring and to establish a feedback loop when early indicators are surfaced. Here are a few early key performance indicators to keep in mind:
| Adoption | order completion rate, samples returned, turnaround time (TAT) for results, % normal, % genetic finding, % of families sharing results with physician, % of families accessing rare disease specialist, % of families accessing genetic counseling |
| Operations | email delivery rate, email open rate, email click-through rate (CTR), unsubscribe/opt-out rate, time-to-next-step (e.g., time from results to accessing rare disease specialist) as a practical proxy for the diagnostic odyssey compression |
| Experience | Support volume, common confusion themes, member satisfaction |
Launch Pilot Program, Measure, Learn, Iterate
When launching any new benefit, start with a pilot that has a clear benefit hypothesis and success criteria. Measure pilot outcomes, learn, implement any program changes, and then iteratively scale the program across your book of business. Programs with a lean workflow, seamless handoffs, plain language communications, and that adapt to member needs, are often most successful. Finally, treat data privacy and member trust as highest priority product requirements.
[1]https://everylifefoundation.org/wp-content/uploads/2021/02/The_National_Economic_Burden_of_Rare_Disease_Study_Summary_Report_February_2021.pdf
[2] https://pmc.ncbi.nlm.nih.gov/articles/PMC6119550/
[3] https://ahiporg-production.s3.amazonaws.com/documents/Genetic-Testing_4.11.18.pdf
[4]https://www.businessgrouphealth.org/resources/genetic-testing-key-considerations-for-employers
Legislative Landscape
Multiple states have begun covering genetic screening for infants through Medicaid or pilot initiatives, creating a patchwork of coverage but there is momentum toward considering genetic screening a standard diagnostic in pediatric settings.
Notably, Florida’s Sunshine Genetics Act (HB 907 / SB 1356), signed in June 2025, creates a five‑year pilot program to offer voluntary genetic screening for newborns in Florida administered by the Florida Institute for Pediatric Rare Diseases at Florida State University.
On January 15, 2026, Representatives Scott Peters (D-CA), Gus Bilirakis (R-FL), Marc Veasey (D-TX), Troy Balderson (R-OH), Kevin Mullin (D-CA), Mike Carey (R-OH), Chrissy Houlahan (D-PA), and Maria Elvira Salazar (R-FL) introduced the Genomic Answers for Children’s Health Act, a bill that provides access to genetic screening for children enrolled in Medicaid who have a suspected rare disease or genetic disorder. Given that government actions impact the commercial healthcare setting, leaders need to be informed on how genetic screening can reduce the clinical and financial impact of pediatric disease in their populations.
About the Author
Nicole Belles is a product leader who turns complex health data into simple, trustworthy solutions. She is the Chief Product Officer of GeneSprout, a pediatrician-founded company using genetic sequencing to improve the health of children by identifying conditions that can be treated or prevented. Throughout her over-two-decade healthcare career, she has been using emerging technologies to build resilient, enduring products with measurable outcomes, that address the strategic business needs of all stakeholders in the healthcare ecosystem. She has worked in multiple disciplines, including consulting and practice leadership, methodologies and predictive analytics and product management.
To test if your organization is ready to launch a genetic screening benefit, download this Genetic Testing Benefit Readiness Checklist.
