New findings presented at ASHG 2026 show how population genomic screening is identifying genetic risk at scale and changing preventive care. For sponsors developing genotype-defined therapies, they also raise an important question: how can these growing populations of genetically characterized individuals be connected to future clinical research?
At the American Society of Human Genetics (ASHG) 2026 Annual Meeting in Montréal, new findings from Helix and the 23andMe Research Institute highlighted the growing scale and clinical impact of population genomic screening.
At the opening plenary on October 20, Helix presented results from an observational study involving more than 525,000 adults across 14 US health systems. Screening for nine genes associated with three CDC Tier 1 conditions identified approximately 9,200 people, or 1.75% of participants, carrying pathogenic or likely pathogenic variants linked to:
Importantly, identifying genetic risk was associated with changes in clinical care. Carriers who had not previously received recommended screening were more likely to initiate it than non-carriers. Among Lynch syndrome carriers, first-time colonoscopy initiation was more than eight times as likely, while increased cholesterol testing and mammography were observed in carriers associated with the other conditions. Changes began within six months of results being returned.
The findings offer encouraging evidence that population genomic screening can move beyond identifying risk to supporting preventive action.
But for clinical research, they also point to a different challenge.
Identifying someone with a clinically significant genetic variant is not the same as having a participant who can be contacted, assessed, and enrolled in a genotype-defined trial.
As screening expands, that distinction is becoming increasingly important for clinical development.
Helix's findings were not the only indication of this shift at ASHG.
In a separate analysis announced on October 26, the 23andMe Research Institute reported findings from nearly six million research-consented US participants who had received genetic health risk reports.
More than 635,000 people, or 10.6%, received at least one medically actionable result. This included more than 21,000 cardiovascular-related results involving genes such as LDLR, APOB, and TTR.
The analysis covered a broader set of conditions and variants than the Helix study, so the prevalence figures are not directly comparable. Nevertheless, both demonstrate the increasing scale at which genetic information is being generated and returned to individuals.
This matters particularly in conditions where genetic risk has historically gone unrecognized.
Familial hypercholesterolemia, for example, has long been underdiagnosed. A 2016 Geisinger MyCode study identified FH-associated variants in approximately one in 256 unselected participants, illustrating how genetic screening can reveal risk that may otherwise remain undetected.
For patients, earlier identification creates opportunities for more informed clinical care and prevention.
For sponsors developing genotype-defined therapies, it could also improve understanding of where relevant patient populations exist.
But the presence of an identified genetic variant is only one part of clinical trial feasibility.
Population screening programs are primarily designed to support clinical care. Their pathways appropriately emphasize returning results, genetic counseling, and follow-up with healthcare professionals.
For example, a Helix Research Network study of FH screening describes an approach in which positive results were incorporated into electronic health records, accompanied by genetic counseling and health-system outreach.
These processes help individuals understand and act on their results.
Participation in future clinical research, however, requires additional considerations. A genetically identified individual may not have consented to be approached about clinical trials. Their screening result may not satisfy a particular protocol's requirements. Other clinical eligibility criteria may remain unknown, and an appropriate study may not yet be available.
Some screening programs and biobanks already support research participation and recontact. Others may have more limited pathways, depending on their purpose, consent arrangements, governance, and infrastructure.
The important question for sponsors is therefore more than just how many individuals with a relevant genotype have been identified. It is how many could realistically become eligible, contactable, and willing research participants when a trial needs them.
That requires a different level of feasibility planning.
As genetically characterized populations grow, sponsors should assess the operational infrastructure connecting screening programs to clinical research. Four areas are particularly important.
1. Consent and permission to recontact
Being part of a genomic screening program does not automatically mean an individual can be approached about a clinical trial.
Sponsors and their partners need to understand what participants have consented to, whether future research contact is permitted, and which organization is authorized to initiate it.
Building appropriate recontact pathways into screening programs can help preserve future research opportunities while respecting participant autonomy and data governance requirements.
2. Clinical prescreening beyond genotype
A relevant genetic variant may be essential for trial eligibility, but it is rarely sufficient on its own.
Disease status, age, clinical history, biomarker levels, prior treatments, and other protocol-specific criteria can substantially narrow the eligible population.
Understanding these factors before trial activation can help sponsors distinguish between estimated genetic prevalence and realistic recruitment potential.
3. Genetic confirmation and testing requirements
Existing screening results may not meet the requirements of a clinical trial protocol.
Depending on the study, additional testing may be necessary to confirm a variant, establish eligibility, or satisfy assay and laboratory specifications.
Planning these requirements early can reduce avoidable delays, participant burden, and uncertainty during recruitment.
4. Ongoing engagement and recontact
The timing of genetic identification rarely aligns perfectly with the availability of a relevant clinical trial.
Individuals may be identified months or years before a study opens. Maintaining an appropriately consented relationship during that period can make future research participation more feasible.
This means offering relevant information, maintaining contact preferences, and ensuring people can make informed decisions about whether they wish to hear about future opportunities.
Without sustained engagement, the potential research value of an identified cohort may become harder to realize over time.
For sponsors developing genotype-defined medicines, these considerations suggest that traditional feasibility assessments may need to look beyond disease prevalence and site-level patient estimates.
The existence of a large genetically characterized population can be encouraging, but it does not necessarily indicate how quickly a trial can recruit from it.
Sponsors evaluating screening-derived cohorts should be asking:
These questions can help sponsors identify gaps before recruitment starts, rather than discovering them once enrollment is under pressure.
They also have implications beyond individual studies.
For pharmaceutical companies developing multiple genetically stratified therapies, the ability to maintain appropriately consented, well-characterized participant relationships across programs could support more efficient future feasibility planning and recruitment.
At Sano, we see this challenge across precision medicine programs: finding relevant patients is only one part of making clinical research accessible.
The pathways connecting identification, eligibility assessment, testing, and long-term engagement are equally important.
Sano's precision patient platform brings these activities together, supporting sponsors and partners with digital prescreening, e-consent, at-home genetic testing through certified laboratory partners, genetic counseling, and ongoing participant engagement.
Through our Portal and Virtual Waiting Room, individuals can receive study information, complete eligibility assessments, and remain engaged for potential future research opportunities where appropriate consent is in place.
This approach has supported programs across rare genetic conditions, including a genetic hearing-loss initiative in which more than 70% of participants completed prescreening questionnaires. Participants who were not eligible for the initial program could also opt into ongoing recontact.
The value lies not only in identifying participants for a particular study, but in creating a more connected experience that can support research opportunities over time.
The findings presented at ASHG 2026 represent meaningful progress for population genomics.
Large-scale screening is helping identify previously unrecognized genetic risk, and the Helix results provide evidence that these findings can influence preventive care.
For precision medicine development, the next opportunity is to ensure that this growing genetic knowledge can also support responsible, effective access to clinical research.
That won't happen through screening alone. It requires appropriate consent, reliable eligibility assessment, accessible testing, coordinated clinical pathways, and sustained participant engagement.
As more people learn about their genetic risk, the question for sponsors is shifting from how many potential participants exist to how many can realistically be reached and supported when research opportunities arise. Understanding that distinction early could make a meaningful difference to the feasibility and delivery of genotype-defined trials.