The Core Concept of ‘access’ is the most widely addressed concept related to equity in the selected policies. Access was addressed in 14 out of 17 policies (82%). The ratings that are given in the EquiFrame for the Core Concept of access in the 14 policies varies between 1 and 2 (between ‘access’ being stated in the policy to ‘access’ being explained).

Out of these 14 policies, the genomic policies of Western Australia (2022), New South Wales Genomics Strategy (2020) and in the United Kingdom, one of rare diseases (2021) and the National Health Services genomic policy (2022) mention the necessity of equitable access to genomic medicine in varying degrees.

The Core Concept ‘participation’ was addressed in genomic policies of Australia, UK, Canada, Hong Kong and India to varying degrees. Twelve out of the 17 genomic policies (70.5%) included participation as a Core Concept. Participation in them is addressed in two distinct areas: participation of the community in genomic research and community participation in genomic policy development and implementation. Participation of the community in genomic research is not in the scope of this review. In the latter category, the key question posed regarding the Core Concept of participation in the EquiFrame is if the policy supports the right of vulnerable groups to participate in the decisions that affect their lives and enhances their empowerment. The ratings of the 12 policies vary between 1 and 3 (from naming the Core Concept to detailing methods to achieve the Core Concept).

In the EquiFrame manual the Core Concept of integration means integrating genomic care for Vulnerable Groups in the main or general healthcare system rather than having specialized services dedicated for Vulnerable Groups. Mannan et al. (19) argue that when incorporating the concept of integration meaningfully in policy, one must first investigate if the policy bars the vulnerable communities in participating in mainstream healthcare. The authors further argue that dedicated services for vulnerable populations could have inadvertent effects such as stigmatization, be at the risk of losing funds, become less desirable for health professionals and therefore face the risk of losing quality of care (p.54). This analysis demonstrates that the CC of integration in relation to including vulnerable population.

Overall, out of the total number of 17, 12 policies in the review either did not focus on integration or used the CC of integration in a manner that did not align with the meaning of the CC as outlined by Mannan et al. (19). The term ‘integration’ in these policies is used to denote the integration of genomic data and research in the genomic services; this is not within the scope of this review.

Five policies from Australia, UK and Denmark address the CC of integration of genomic services in the mainstream general healthcare services in varying degrees and detail. What these five policies demonstrate in common is the importance of integrating genomic clinical services in the general healthcare services in the delivery of person centered, equitable genomic care. Only two policies specifically address integration in the healthcare system with the intention of addressing the needs of vulnerable populations. While the policies from the UK emphasize the strong platform that NHS provides the Genomic Medicine Service (GMS) in the delivery of equitable, effective and sustainable genomic healthcare for the UK population, Australian genomic policy clearly demonstrate its commitment to integrate genomic services into general healthcare services.

Accelerating Genomic Medicine in the NHS recognizes that NHS is in a strategic position to implement genomic healthcare as a nationally organized locally delivered service. The policy points out that Genomic Medicine Service (GMS) of NHS is an integrated service model which have brought together genomic testing, clinical genetics and other services, research and innovation to deliver the benefits of genomics to all NHS patients (p. 16). The NHS policy states that the development of an integrated service model of genomic service via primary and community care is specifically focused at providing services for unmet needs and undiagnosed populations.

The UK Rare Diseases Framework too echoes this statement of how Genomic Medicine Service is integrated into the frontline healthcare service of NHS.

Australia’s National Health Genomics Policy Framework (2018–2021) focuses on the CC of integration in relation to integrating genomic healthcare in the national health system. The policy also acknowledges that the integration of the genomic services in the national health system is dependent on the acceptance of this by the community and the level of confidence that the community has on the genomics (p. 1). Even though it does not mention vulnerable populations in relation to integration, the policy views integration of genomic services in the national health system as a mechanism to address inequity and also recognizes the risk it still presents for potential discrimination of people.

The Core Concept of quality has been recorded in 10 policies (58%) from Australia, Canada, Thailand, Hong Kong, Italy and Denmark. In most of these policies, ‘quality’ was the highest rated Core Concept that was discussed about in a universal sense.

The Core Concept ‘Coordination of services’ is addressed to a moderate extent in the selected policies. Mannan et al. view coordination of services as the ability of health professionals to deliver services through the established interpersonal relations, through structural mechanisms that liaise different agencies that connect different levels of local, state and federal governments in different health care systems (p. 48). Coordination of services was addressed only in 8 policies (44%) from Australia, UK, Hong Kong, Finland and Canada. The EquiFrame ratings for these policies vary from 1 to 4, the highest rating that can be given to a policy for detailing specific policy actions to achieve the Core Concept and methods to monitor the progress of the specified policy actions. While some policies acknowledge the important role that the state government or the national health services/system must play in coordinating the services (Such as the WA genomic strategy and Accelerating Genomic Policy in the NHS), others identify the ways that this can be achieved (Such as the UK Rare Disease Framework) and how integration of clinical genetic care can into routine healthcare can be achieved through coordination of services (Such as the NSW Health Genomics Strategy Implementation Plan 2021–25). None of the policies referred to any specific vulnerable groups in relation to coordination of care.

The policy that earned the highest rating for coordination of services is the WA genomic strategy (2022). The policy views the state government as the entity that would coordinate between different agencies and organizations to achieve the type of genomic care that is explained in the policy (p.10). In this policy, under Priority 1 (a person- and family-centered approach to genomic healthcare), a coordinated and personalized approach is prioritized to meet the needs, values and preferences of the consumer and the family (p. 18). In Priority 2 (genomic health services), the policy emphasizes the importance of collaborative and coordinated mechanisms in health service planning and capacity-building to integrate new genomic advancements into the WA health system (p. 23). The policy further explains this integration through the example of appropriate coordination between state-wide pathology and clinical genomic services and other healthcare providers to provide equitable and ethical genomic care to the WA population. The policy states that strong stewardship, leadership and governance are required to achieve service coordination to deliver the strategy (p. 40).

Coordination of care is a policy priority in the UK Rare Diseases Framework (2021). The policy identifies the importance of coordination of various services for rare disease management and the challenges that exist for the coordination of this care (p.14). According to the policy, care coordination helps minimize burden on patients and their carers and helps health professionals work together to provide the best care possible to the patient. The UK Rare Diseases Framework has a rating of 2 in the EquiFrame framework because the policy not only states the Core Concept but also describes and explains how it can be achieved. For example, the policy demonstrates how implementation of virtual multidisciplinary team meetings, telemedicine and video appointments have supported better care coordination in the case of rare disease management (p. 14).

Other policies from Australia, Hong Kong, UK, Finland and Canada each earned the rating of 1 as coordination of services and care is only stated or named in the policy as a strategy that sits under the overarching framework. For example, in the UK policy of Accelerating Genomic Policy in the NHS, the coordination of services and care is identified as an important task of NHS. The policy recommends the NHS achieve equity of access to genetic care by coordinating care, sharing of best practice and through driving a standardized model of delivery across the country (p. 45).

The Core Concept of cultural responsiveness is addressed in six reviewed policies (35%) from Australia and the UK. Each policy except WA Genomic Strategy (2022) earned the rating of 1 as they only mentioned the importance of the concept. The WA policy further provides details of what cultural responsiveness means and how it can be achieved. Apart from the WA policy, generally cultural responsiveness is a Core Concept that is not addressed in an in depth manner in the selected policies.

While in the WA Genomic Health Strategy the term cultural responsiveness is not used, respecting ethnic, cultural and socio-economic diversity of patients and families is integral to its priority 1, achieving person and family centeredness (p.18). The policy highlights that respecting culture of Indigenous peoples is achieved by forming close partnerships with Indigenous community organizations (p. 21–22); the co-creation of genomic health services and policies therefore intrinsically recognizes the importance of community for Indigenous people and is a key aspect of cultural responsiveness. Importantly, the policy acknowledges that at present there is lack of trust within the Indigenous community towards genomic testing due to experiences of violations of their trust by early genomic initiatives. The policy therefore aims to develop standardized and culturally appropriate voluntary informed consent processes and uphold Aboriginal data sovereignty (p. 35). It also acknowledges the future need to explore the needs of consumers from various ethnic, social, and cultural groups (p. 25).

In the Australia National Health Genomics Policy Framework (2018–2021), cultural responsiveness is not addressed using the same terminology, however promoting awareness of genomics among culturally and linguistically diverse communities through culturally appropriate information is identified as a priority action. As barriers to equity are multifaceted, the policy recognizes that it is important to identify cultural acceptability barriers for genomics. Further, the policy also recognizes that evaluating the delivery of genomic health care in terms of its cultural appropriateness is an important priority action when delivering secure and responsive care to Aboriginal and Torres Strait Islander communities (p. 6).

The UK’s “Genome UK: The Future of Healthcare” (2020) policy identifies the importance of clinicians and researchers working together effectively to give individualized care for the patient which will include addressing cultural barriers (p. 26).

Participation, integration, quality, coordination of services and cultural responsiveness are the principles that are addressed to varying degrees in the policies that are reviewed.

Participation is a concept that is commonly used in genomic policies particularly in high-income countries such as Australia, Canada and the UK. Participation is defined by WHO as the social involvement of the population in decisions that affect their health, defining their problem, health care services, implementation, evaluation and monitoring of those decisions (48). WHO contends that participation is a key driver of health equity as the employment of this principle facilitates the involvement of vulnerable communities as the agents and protagonists in the policies that directly affect them (2019). In the reviewed policies the terms engagement, patient voice and lived experience of patients are used interchangeably with participation. In the genomic policies where this Core Concept is addressed, there are two distinct areas that the focus is on in relation to obtaining participation of the communities: genomic research and policy implementation.

A common theme observable in the genomic policies of the UK and Australia (WA) is acknowledgement of the historical reasons for the reluctance to engage with genomic health system among vulnerable populations. This is compounded by assumptions that health professionals have about minority communities. For example, previous literature demonstrates that health professionals make assumptions about socio-cultural, economic and biological characteristics of ethnic and racially different minorities that effects their care (28). This two-way barrier has led to a lack of diversity in available datasets across high income countries, which in turn impacts negatively on the ability of minority populations to obtain benefits of genomic medicine and healthcare (2).

To increase participation in genomic research or care from ethnic and other minority groups, genomic policies need to recognize and address this two-pronged barrier effectively. The ‘Accelerating Genomic Medicine in the NHS’ (43) policy sets forth a model to follow to achieve this outcome. In the reviewed genomic policies, there is an absence of recognition and weight given to the capacity that participation has, to function as a driver for equity.

Participation is mentioned in the reviewed policies mainly in relation to research and policy implementation. However, participation as a strategy to achieve equity in genomic health care needs to be included from the first step itself of policy development including in research and policy implementation. This brings our attention to an important measure that needs to be taken in future policy making in genomic health care: the need to include participation of vulnerable communities and populations in all stages of policy process that includes the stages of problem diagnosis, planning, implementation, evaluation and monitoring. Health inequity and inefficiency are significant negative consequences that irrefutably follow, in the instance when this is not done (48).

Integration of genomic healthcare in the mainstream health system is the most notable strategy and service model that many policies recommend in relation to the Core Concept of integration. Integration of health services is recognized as a mechanism that facilitates and enhances health equity (49). WHO contends that integration as a principle encourages the prioritization and selection of health services to deliver a holistic care over the life course of a population that include processes related to prevention, protection, promotion, diagnosis, treatment and management of diseases (2018).

Regarding the principle of integration, Australian and English genomic policy in particular read strongly according to the EquiFrame framework: they all focus on giving clearly articulated, specific policy actions to integrate genomic healthcare into the mainstream health system. Within the principle of integration, Australian policies identify focus areas that need to be included in it such as the inclusion of education, workforce knowledge about genomics, data security and sharing, high quality and safe services and person-centered approach as strategies to employ. These aspects of integration are also endorsed by WHO (49). The examination of integration in Australian genomic policy provides a relatively complete model of the ways and steps that can be taken to achieve genomic care equity through integration. While the integration of the above sectors is important in genomic health care, it is also important to acknowledge the need for integration of the overarching processes of prevention, protection, and promotion. The developments of genomic medicine and healthcare have a significant impact on these processes.

Quality of care is integral to health equity. In fact, effectiveness, people centeredness, equity, timeliness, safety, integration and efficiency are widely recognized to be the characteristics of quality of care (29). There is a growing body of literature that argue that quality of care is achieved only if it is examined through an equity lens (30). Equity and quality of care in health services should not depend on age, sex, gender, race, indigeneity and ethnicity, migrant status, geographical location, socio economic status, language, religion and disability and other socio-economic and cultural factors (30, 31). The delivery of equitable and high-quality health care demands an understanding of the complex interplay of the above factors (30). The reviewed policies recognize quality of care as an outcome of strong senior leadership in the health system and an outcome of person-centered genomic healthcare, improved safety, cost effectiveness and of a skilled and knowledgeable health workforce. However, in these policies, there is little acknowledgment given to the understanding of the interplay of various socio-economic, cultural and geographic aspects in relation to achieving quality of care in genomic healthcare.

Cultural responsiveness is one of the Core Concepts that is sparsely addressed in the reviewed policies. Naturally, cultural responsiveness becomes an important necessity in health policy where there is a significant culturally diverse population; this Core Concept is seen in most Australian and English genomic policies. Forming close relationships with the communities of Indigenous and ethnic minorities, developing culturally appropriate voluntary informed consent processes, increasing cultural awareness in genomic clinicians and researchers are some of the policy actions that can be seen in them to increase cultural responsiveness. Recognition of culture is a cornerstone of strength-based approaches used to achieve health equity in marginalized and vulnerable communities (27). Cultural responsiveness is an important Core Concept that needs to be included in genomic policies as literature has already demonstrated that the assumptions that health professionals tend to make of patients from minority communities function as a significant barrier for accessing genomic healthcare (28). One’s culture and language act as major factors that impact on the quality of the healthcare a patient receives, health outcomes and patient satisfaction (36). Although cultural diversity and cultural competence are recognized as important obligations that the health services need to meet to address the needs of ethnic minorities and Indigenous communities, literature identify systemic, organizational, professional and individual challenges that health services encounter when delivering culturally responsive care (37). Genomic policies that were reviewed give little focus on the importance to the cultural responsiveness when addressing the needs of ethnic minority and Indigenous communities.

Other Core Concepts such as prevention, liberty and entitlement were either addressed in very few policies or were not addressed at all. However, all three concepts are intrinsically linked to the provision of genomic care and to factors such as confidentiality, privacy and data sovereignty.