Despite these advancements, only a small fraction of the population is covered for GS, and such testing is largely inaccessible in low- and middle-income countries. Indeed, even in geographies where genetic testing is well covered, there is substantial under-utilization26 often exacerbated by limited physician awareness, long wait times for specialist consultations, and patient and physician challenges navigating the health insurance system. To address these gaps, and to accelerate access to a precision diagnosis for all patients with a genetic disease, we recommend the following collective actions:

Prioritize policy and funding support for GS coverage

Governments, policymakers, and healthcare systems should prioritize and allocate resources to support universal coverage of GS as a first-line test for appropriately indicated patients adhering to indications endorsed by evidence-based guidelines from expert professional societies13. At a minimum. this should include adequate funding and reimbursement mechanisms to enable GS for critically ill infants, pediatric patients with congenital anomalies, intellectual disability and developmental delay, and adult undiagnosed disease patients with signs and symptoms consistent with a genetic disorder. In the US, the Medical Genome Initiative supports the inclusion of GS as a covered benefit in all US state Medicaid programs, and federal guidance on appropriate integration of GS based on EPSDT guidelines. Similarly, in other high-income countries (HICs), we recommend the implementation of policies that support broad, timely, and equitable access to GS testing for all patients with suspected genetic disorders. In low- or middle-income countries (LMICs), where access to GS may be more difficult due to local resource constraints, we advocate for policies and reimbursement mechanisms that broadly support genetic testing inclusive of GS when available.

Incorporate Health Technology Assessment (HTA) processes and cost-effectiveness assessments

In geographies that utilize health technology assessments as a component of policy decisions, we recommend the implementation of a ‘living HTA’ that incorporates ongoing assessment of both the clinical utility and cost-effectiveness of GS and genome-informed care within the local healthcare system. This approach ensures continuous evaluation and updates to the assessment methodology, aligning decisions with evolving scientific, clinical, and economic considerations in genetic testing. Additionally, we recommend the development of international evidence requirement standards and data exchange mechanisms to expedite technology reviews across geographies and disparate health systems. This approach will foster global equity in access to genomic testing and promote the timely adoption of innovative healthcare solutions across diverse healthcare systems.

Reduce the administrative barriers

To improve access to GS, there is an urgent need to streamline pre-authorization, eliminate co-pays or other out-of-pocket expenses when insurance coverage is present, and simplify administrative procedures. Reducing administrative barriers will not only save time but also alleviate the financial burdens of patients and healthcare providers, ensuring timely access to critical genetic testing services. We note that in the US, the American Medical Association (AMA) is pursuing state-level legislation to streamline appropriate test ordering, and we anticipate similar efforts in other geographies. A comprehensive reduction in administrative burdens, is essential to further improve access to GS testing.

Strive for equitable access from the outset

Equitable access to GS should be prioritized to ensure that all patients, regardless of their background or socioeconomic status, can benefit from a genetic diagnosis and genome-informed care. In the US, Medicaid policies, managed at the state level, must be expanded to enable access to GS in underserved populations. In other geographies, without public funding, access will be limited to patients that can afford to pay out of pocket. The clinical genetics community should work with local governments, the pharmaceutical industry, nongovernmental organizations (NGOs), and philanthropiists to support in-country capacity building and test subsidization programs.

Continued development of evidence-based guidelines

Continued development of evidence-based guidelines that detail the indications for GS testing and genome-informed treatment are essential to widespread adoption. Guidelines should be developed in collaboration across professional societies to support awareness and utilization beyond medical genetics professionals. Gaps in the evidence should be clearly articulated to enable both academic stakeholders and private industry to develop plans to address them.

Advocate for comprehensive care coordination

It is critical to establish mechanisms for effective care coordination throughout the diagnostic and precision medicine process to maximize patient benefit and constrain costs. This will require improved communication mechanisms across care providers and the development and implementation of infrastructure that supports timely result-sharing and coordinated follow-up for care continuity.

Resource clinician education and training

Expanded continuing education and training programs are needed for healthcare professionals in clinical genomics and genomic medicine. This should include integrating genomics education into medical and allied health curricula and providing ongoing professional development opportunities. Clinical education and training are necessary to address equity of access issues in disadvantaged communities worldwide.

Engage the public and raise awareness

To increase appropriate utilization of genomic testing, the public must be educated about both the strengths and limitations of these approaches, including the benefits of genome-informed treatment. Multi-stakeholder campaigns that include hospital systems, payers, professional societies, and industry, which engage prospective patients, may lead to more effective testing and improved public policy. We support public awareness campaigns that focus on historically disadvantaged and under-represented populations (e.g. indigenous communities, globally).

In summary, these actions call upon a wide range of stakeholders, including governments, healthcare systems, professional societies, educational institutions, NGOs, and industry, to collaborate to address the challenges and disparities in genetic testing access and utilization.