Advances in high-throughput genomic sequencing, combined with a broader understanding of genetic mechanisms has enabled a growing class of genotype-directed therapies across a range of disease areas. Many of these newer therapies are increasingly dependent on identification of eligible patients early in disease progression. However, according to a recent study in the Annual Review of Genomics and Human Genetics, as many as 50% of individuals with rare genetic diseases are not given a diagnosis even after spending years on a diagnostic journey of invasive and expensive testing.1
Sponsored testing programs offer key practical answers to closing the gap. The process is simple: sponsors support clinically appropriate genetic testing so eligible patients can be identified through the clinic in existing care pathways. A single program advances multiple objectives at once by accelerating diagnosis, expanding health systems' precision medicine capacity, and generating real-world evidence that supports the broader development pipeline.
Key Takeaways
- One program, multiple opportunities. Patients get diagnosed earlier, health systems expand precision medicine at reduced cost, and sponsors gain real-world evidence.
- Different ways to find patients. Prospective testing at the point of care, plus retrospective querying of an already-sequenced cohort to surface patients who are missed today.
- Evidence driven. De-identified results linked to longitudinal EHR data build a durable clinicogenomic asset as the program runs.
- End-to-end program. Exome+® testing, a consented and clinically linked research network, and turnkey program management on one integrated platform.
What a sponsored testing program is
A sponsored testing program is a partnership where life sciences sponsors support genetic testing for eligible patients, delivered through physician-directed clinical workflows. Eligibility is defined up front, aligned to a specific therapeutic area and genetic target, and would be attested to by the ordering physician for each patient. Patients receive clinically relevant results through their own clinician, and de-identified results are linked to longitudinal clinical data for research and insights with prior patient consent.
The opportunity: one program, addressing multiple problems
Sponsored testing programs align objectives that can pull in different directions. Patients, health systems, and sponsors each receive positive outcomes from the same program.
- For patients: clinically relevant results through their own physician with the potential for earlier identification than through standard care pathways, with cascade testing available for at-risk family members.
- For health systems: a way to expand precision medicine at reduced cost, close testing gaps, and differentiate care, with genetic counseling and referral built into existing workflows.
- For sponsors: help accelerating diagnosis where clinically indicated, and real-world evidence generated from clinical genomic workflows at scale.
That alignment is what makes a program durable: A sustainable program that helps identify clinically eligible patients over time, based on physician-directed testing.
Why the timing has changed
While sponsored testing programs have been running for years, the infrastructure and tools have evolved. Whole-exome sequencing can now run across large, diverse populations rather than one patient at a time. Results can be linked to longitudinal, OMOP-harmonized EHR data that turns a variant into a comprehensive clinical picture. The Helix “Sequence Once, Query OftenⓇ,” model means one time sequencing can be queried again and again as new targets emerge, shifting the starting point of diagnosis from waiting for symptoms to querying the genome.
Two ways programs reach the right patients
The strongest programs use two complementary pathways, capturing patients who present today and surfacing patients already in the data who have not yet been identified.
1. Prospective, physician-initiated testing. Clinicians order sponsored testing at the point of care, through EHR integration or an on-demand portal, ensuring timely results, genetic counseling, and family cascade testing where applicable.
2. Retrospective, population-scale identification. A large, already-sequenced and clinically characterized cohort is queried to find people who carry a relevant variant and have suggestive clinical features. Because they are already sequenced, they can be identified quickly with no new sample, and their physician can be notified through established channels.
The retrospective pathway is what turns a program into a continuously growing engine. As the cohort grows, it keeps surfacing newly eligible patients, delivering access to care for years rather than for the length of a single outreach effort.
The evidence drives it forward
Because testing happens inside clinical care and results are linked to longitudinal data, every program also produces a growing, de-identified clinico-genomic dataset. The real-world evidence provides a scalable and clearer picture of a genetically defined population, and program insight through real-time dashboards. The process highlights that evidence is a byproduct of doing the clinical work well. Programs that chase data as the primary goal tend to underdeliver, while those focused on getting the right patients diagnosed produce the most valuable evidence as a result.
Why Helix
Running a program this way takes infrastructure that is difficult to assemble piece by piece. It is where Helix is purpose-built to help, so a sponsor does not have to stitch together a lab, a data platform, a clinical network, and a counseling service.
- A platform built for confident diagnosis. The Exome+ assay adds enhanced coverage of clinically relevant genes and content beyond a standard exome, which means coverage designed to support comprehensive variant assessment, with interpretation guided by ACMG and AMP standards.
- One sequence, many questions. The Sequence Once, Query Often model lets a single sequencing event support new targets and programs over time through repeated queries.
- A consented, clinically linked network. The Helix Research NetworkⓇ pairs population-scale sequencing with longitudinal, OMOP-harmonized EHR data and participant consent for recontact. That combination is what makes retrospective identification and real-world evidence possible in one process.
- Turnkey program management. From program design and HCP education to EHR-integrated ordering, genetic counseling, family cascade testing, and real-time performance dashboards, Helix runs the program end to end.
When it becomes the right tool
Sponsored testing programs are most valuable when a genetically defined population is underdiagnosed and earlier identification could improve clinical care. A few recurring situations illustrate the fit:
- Confirming a subtype for more treatment options, such as distinguishing hereditary from wild-type transthyretin amyloid cardiomyopathy.
- Surfacing patients hidden in broad presentations, such as a treatable genetic diagnosis behind unexplained left ventricular hypertrophy.
- Building understanding of an emerging indication, characterizing prevalence, clinical trajectories, and treatment patterns over time.
- Improving equitable access, helping clinicians identify patients who may benefit before symptoms appear, including populations traditional pathways miss.
A better starting point for everyone
Genomic medicine depends on translating discoveries into care, and that translation stalls whenever the right patients cannot be found. Sponsored testing programs move the starting point upstream, inside clinical workflows where results can improve care.
Connect with the Helix team to explore how a sponsored testing program can support clinical case finding, real-world evidence generation, and precision medicine strategy.
References:
- Hartley et al., "New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases," Annual Review of Genomics and Human Genetics, 2020. https://www.annualreviews.org/content/journals/10.1146/annurev-genom-083118-015345