A central tenet of research is to build on work that has gone before with the intention of learning from the efforts of others to progress existing evidence and so continuously advance research findings [1]. In health, this modus operandi can lead to improved approaches to prevention, diagnosis, and treatment for patients and the wider community, but also to more efficient implementation of cutting-edge services [2]. Establishing research on the findings of others can help prevent both researchers and clinicians from duplicating studies whereby effective approaches have been identified, thus optimizing costs and impact of previous research funding [3]. For the translation of evidence into practice specifically, finding ways to efficiently consolidate and disseminate the proven active ingredients of implementation success and the tools with which to achieve this could facilitate accelerated adoption of evidence-based interventions over time.

Implementation science – “the scientific study of methods to promote the systematic uptake of research findings and other evidence-based practices into routine practice” [4] – offers a structured approach to frame implementation efforts to drive uptake of evidence-based practice into routine clinical care and public health settings. Due to the rapid scientific advances of genomics over the past 25 years, innovations are being pushed onto an overstretched health system without adequate guidance. This places implementation of genomics in the spotlight, which typically falls into three broad categories: (1) reliance on clinical intuition or experience (clinicians) – clinicians endeavor to implement genomics using what they think will work best; (2) using evidence-based approaches to support implementation (implementation practitioners) – practitioners draw on findings generated through implementation science research to support implementation of genomics; or (3) studying the implementation of things (implementation scientists) – researchers study the process of implementation to advance the boundaries of knowledge. While these approaches to translating evidence into practice are not unique to genomics, the rapid pace of innovation development adds another significant challenge. One output from implementation science is the creation of evidence-based resources, i.e., implementation tools, materials, strategies, etc. These resources have the potential to facilitate integration of genomics into practice, yet due to the fast-evolving field and its impact across wide, multidisciplinary areas of healthcare, they are scattered across different specialist journals, making them difficult to locate.

One example of a critical evidence-based practice in genomic medicine is cascade screening – the systematic testing of relatives in a family following the diagnosis of a hereditary condition. Cascade screening for conditions such as hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia is particularly important given the potential to improve public health. Unfortunately, cascade screening is underutilized due to complex, multilevel barriers experienced among clinicians, patients, families, and the systems in which they live and work. A plethora of implementation science resources to address these complex barriers have been developed but not widely shared. For example, Let’s Talk about Lynch Syndrome and Your Family [5] was designed to improve implementation of cascade testing for Lynch syndrome using intervention mapping [6] and based on a needs assessment (systematic review and key stakeholder interviews). This approach, while well positioned to build on the evidence base and needs of target populations, is limited by the extent to which resources to inform design and content are made available and/or actively disseminated. For example, Let’s Talk builds on a literature review but will only capture efforts that have been (1) published at the time of the review; (2) fit systematic literature review criteria (e.g., years, geography); and most importantly, (3) provide access to accompanying resources. A “dissemination gap” arises where, for a group aiming to solve a similar problem in a different setting, the needs assessment fails to identify existing resources, which risks others unnecessarily reinventing the wheel. In the case of Let’s Talk, several relevant contemporaneous resources that could enrich the tool were not identified in the initial systematic review or interviews. For example, the ConnectMyVariant tool (https://connectmyvariant.org/) [7] could have been used to enhance activities in Let’s Talk aimed at collecting family histories, connecting relatives, and educating patients on specific variants. As Let’s Talk continues to be refined and evaluated for its effectiveness, emerging findings across research teams must be incorporated. Further, once effectiveness has been established, identifying avenues through which to disseminate this work will be critical for establishing population health impact. Otherwise, we are at risk of reinventing and duplicating effective implementation efforts which is counter to the goals of the field.

Let’s Talk highlights some challenges faced by researchers developing implementation resources for genomics, and in turn, these “dissemination gaps” pose roadblocks to implementation for clinicians seeking to use evidence-based strategies and resources to support implementation of genomics in clinical and public health settings. Collaborations such as IGNITE (https://www.genome.gov/Funded-Programs-Projects/Implementing-Genomics-in-Practice-IGNITE) and Australian Genomics (https://www.australiangenomics.org.au/) have generated numerous resources. Yet this extensive work reflects only a sliver of implementation research that is being conducted in genomics globally, across diverse settings. Sharing and disseminating outputs from implementation activities remains challenging. A solution to maximizing real-world dissemination and implementation builds on ideas by Chambers et al. [8] for iteration between learning health care systems, precision medicine, and implementation science – perhaps, in addition, a “genomics learning implementation system” is needed through development of a global, centralized repository. This repository could facilitate wider dissemination of resources and accelerate development and adaptation of evidence-based implementation interventions over time.

Adopting a genomics learning implementation system approach would provide opportunities to bring together clinical and implementation data from observational studies and clinical trials, providing real-world evidence. These findings could be housed in the Digital Implementation Toolshed (DIT), an online bi-directional platform for resources generated from implementation science activity in genomics. The highly curated DIT (Fig. 1) would augment the Centers for Disease Control and Prevention Genomics and Precision Health Weekly Update https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=Implementation&query=home and hit the sweet spot of: (a) evolving knowledge (work-in-progress) to highlight others currently working in a particular space; (b) promoting international working, including low- and middle-income countries; through to (c) sharing evidence-based resources. Curation could be undertaken by an organization with an international remit such as the Global Alliance for Genomics in Health (GA4GH). Funding to sustain the DIT could be sought from several avenues. For example, funding opportunities are available through the National Institute of Health (NIH), e.g., Genomic Community Resources (https://grants.nih.gov/grants/guide/pa-files/PAR-23-124.html), which also funds ClinGen or the NIH Biomedical Knowledgebase (https://grants.nih.gov/grants/guide/pa-files/PAR-23-078.html). Other potential funding sources include the Health Resources and Services Association (https://www.hrsa.gov/) and the Agency for Healthcare Research and Quality.

Fig. 1.

Health Care Systems Digital Implementation Toolshed.

Fig. 1.

Health Care Systems Digital Implementation Toolshed.

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To promote effective/efficient implementation of evidence-based practice and build the science of implementation of genomics, we need to capture and disseminate the activities of clinicians, implementation practitioners, and implementation scientists. In practice, evidence is generated through research into the implementation of genomics. These findings are identified at both a health system or health service level, generating advances in the form of resources and tools or knowledge and understanding about implementation. For example, the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) intervention developed in Mexico could sit within the DIT [9]. The GRACIAS study successfully piloted a genomic cancer risk assessment tool, for health care professionals, to aid in the identification of individuals with increased cancer risk, thereby enabling screening for early detection and cancer prevention. Sharing GRACIAS via the DIT would inform others who are looking to provide evidence-informed genomic cancer risk assessment support.

Critically, implementation tools/resources and knowledge seek answers to what works, for whom, under what conditions, at what cost, and why. These advances in knowledge can be added to the extant literature and practice housed in the DIT. While similar resources are needed amongst clinicians, implementation practitioners, and implementation scientists, curation within the DIT may differ. The DIT would be layered to meet the needs of people in the wider learning health system community, including clinicians – pick up a resource and apply it, implementation practitioners – identify a suite of resources and support an implementation/clinical team to use it, and implementation scientists – further explore the use of and any adaptations to the resources (e.g., different languages, cultures, etc.) to advance the science of what works, for whom, in what context, why, and at what cost. Activity by these groups will in turn feed into genomic research evidence, continuing the virtuous circle of research, implementation, and practice.

Implementation resources in genomics are challenging to access, hampering the dissemination of successful approaches to evidence translation and wasting opportunities to advance the science of implementation. Tools are only as good as the reasons and methods for using them. Genomics is no exception. Until research-led evidence-informed resources are easily and freely available to help support clinicians and implementation practitioners to fully realize the potential of genomics, we will continue to duplicate efforts, and standing on the shoulders of giants will remain an ambition.

We would like to thank Prof. Muin Khoury, Associate Prof Alison Trainer, and Prof. Kathy Tucker for their reviews of this manuscript prior to submission.

The authors have no conflicts of interest to declare.

No funding was received for this commentary.

S.B., M.C.R., and N.T. conceived this work, drafted the work, provided critical input, approved the final version to be published, and are all accountable for all aspects of the work.

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