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Purpose This Notice of Funding Opportunity (NOFO) invites applications from eligible small businesses to develop solutions for commercialization that can be used to enable of population genomic screening for common, actionable genomic conditions predominantly in the primary care setting. Specifically, we seek products, such as technologies or services, that will allow for the development and sustainment of population genomic screening efforts. Eligible United States small business concerns (SBCs) may submit Small Business Technology Transfer (STTR) Phase I and Fast-Track grant applications. Small business applicants interested in submitting a Small Business Innovation Research (SBIR) grant application should submit to the related funding opportunity, PAR-24-263. SBIR and STTR are phased programs. The main objective in SBIR and STTR Phase I is to establish the technical merit and feasibility of the proposed research and development efforts. An SBIR and STTR Phase II continues the R&D efforts to advance the technology toward ultimate commercialization. At the conclusion of an SBIR/STTR Phase II, it is expected that the small business will fully commercialize their product or technology using non-SBIR/STTR funds (either federal or non-federal). Small businesses that are eligible to submit Phase II applications for projects that were supported with a Phase I SBIR or STTR award are expected to submit the regular Phase II application as a "Renewal" application based on the awarded Phase I SBIR or STTR project. Only one Phase II application may be awarded for a specific project supported by a Phase I award. NIH Fast-Track: An NIH STTR Fast-Track incorporates a submission and review process in which both Phase I and Phase II applications are submitted and reviewed together as one application to reduce or eliminate the funding gap between phases. Definitions For the purposes of this NOFO, the following definitions are used: "Primary care” is defined by the National Academies of Science, Engineering and Medicine (NASEM) as, “the provision of integrated, accessible health care services by clinicians who are accountable for addressing a large majority of personal health care needs, developing a sustained partnership with patients, and practicing in the context of family and community.” “Primary care providers (PCPs)” are defined by the Centers for Medicare and Medicaid Services (CMS) as including “doctors, nurses, nurse practitioners, and physician assistants” providing primary care. They may include practitioners in family and internal medicine, pediatrics, and obstetrics and gynecology. A “solution” is any source of value for the end-users and customers. A solution can be a product, technology, or service, such as physical/tangible device as well as digital services, software as a service, templates, educational materials, or non-physical/non-tangible products (including but not limited to digital applications, digital platforms, or service models). These and other comparable examples could be considered eligible solutions. Background Screening for genomic variants that substantially increase risk of developing common, complex diseases has been established as a cost-effective strategy for three “Tier 1” genomic conditions identified by the Centers for Disease Control and Prevention (CDC): hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). These conditions at present are poorly ascertained by the healthcare system and patients are often unaware of them until they present with late-stage disease. Several other conditions appear “near-ready” for implementation with accumulating but not yet conclusive evidence. Primary care providers (PCPs) are typically the “first line” for managing preventive care—counseling patients on the need for screening, ordering the tests, and linking patients to appropriate follow-up care. The primary care workforce in general feels poorly prepared to address genomic testing and screening, but approaches are available to improve their readiness. Gaps for this workforce include knowledge, confidence, efficient workflows, and a robust informatics infrastructure to support decision-making. Bridging these gaps is possible by facilitating collaboration between PCPs and expert clinical centers. This partnership would offer PCPs essential resources such as patient educational programs, optimized workflows, established referral processes, access to just-in-time CDS systems, and various other resources and informatics tools. Introducing genomic testing gradually into the primary care space, by picking a few high-value, high-evidence screening tests that are straightforward to implement and understand and creating facile solutions that are not time consuming for the fast pace of primary care practices is likely to be more successful than adopting a very large number (such as the current ACMG 3.2 secondary findings list) all at once. Cost-effectiveness of screening has been shown to increase when multiple conditions are assessed simultaneously, taking advantage of a single genomic screen and results return process. Importantly, effective screening also requires establishing effective referral systems for follow-up care. Community engagement is critical to conducting successful genomic research and providing effective care, particularly in marginalized communities. This entails proactively seeking out community values, concerns, and aspirations, then incorporating those into decision-making and establishing meaningful, ongoing partnerships. Implementation science provides tools and frameworks to facilitate and evaluate engagement across a number of different stakeholder types, including patients, families, communities, clinicians, health systems, professional societies, and payers. In November 2023, the Genomic Medicine Working Group of the National Advisory Council on Human Genome Research convened leaders in genomic medicine and related fields in its 15th Genomic Medicine (GMXV) meeting to examine the current state of population genomic screening in the U.S. The group explored obstacles, opportunities, and new directions to inform expanded screening of the general population. A strong recommendation of the GMXV meeting was to support pilot studies of implementing population genomic screening for Tier 1 genomic conditions in primary care as well as near-ready genomic conditions that need that “last mile” of evidence to justify implementation. There was consensus that polygenic risk was not yet ready for population screening and that the current effort should focus on screening for monogenic conditions. GMXV participants recommended the genomics community engage with the prevention research community to co-develop these genomic prevention research projects. Specific Objectives A variety of solutions that can enable population genomic screening are needed. NHGRI will consider applications that address barriers to setting up population genomic screening efforts; conducting outreach, promotion, and education about population genomic screening; and/or providing population genomic screening. Eligible small businesses can submit applications focusing on solutions that reduce costs, time, and/or increase access to population genomic screening. Solutions of interest include, but are not limited to, those that address the following barriers: Services or technologies that help manage the administration of population genomic screening efforts, such as the ordering, reimbursement, return-of-results, or necessary follow-up. Services or products that can be used to educate PCPs on the need for and ordering of population genomic screening. Services or products that provide needed education, workflows, referral pathways, or just-in-time clinical decisions support (CDS). Data Sharing NHGRI recognizes that data sharing is essential to advance genomic research and will expect recipients to comply with the NIH Data Management and Sharing Policy (NOT-OD-21-013) and NIH Genomic Data Sharing Policy (NOT-OD-14-124).Standard SBIR/STTR Data Rights apply to all awards made under this NOFO. A FAQ with SBIR/STTR specific information is also available. NHGRI supports the broadest appropriate data sharing with timely data release through widely accessible data repositories. Please follow the NIH guidance on writing a Data Management and Sharing (DMS) Plan here, and ensure the Plan is in alignment with NHGRI’s data sharing expectations, which are summarized at genome.gov/data-sharing. Scientific data that is shared should be submitted to an established repository as described in the Data Management and Sharing Policy guidance and NHGRI’s guidance on where to submit scientific data. Pre-Application Inquiries Potential applicants are strongly encouraged to reach out to Renee Rider at Renee.Rider@nih.gov to discuss their proposed application. These discussions should take place well in advance of submitting the application. Advice from program staff can help prospective applicants focus their proposed research so that it is responsive to a NOFO and the research priorities of NHGRI. See Section VIII. Other Information for award authorities and regulations. Investigators proposing NIH-defined clinical trials may refer to the Research Methods Resources website for information about developing statistical methods and study designs.