This review aimed to investigate the published literature on pHCPs' genetic KAPs of genetics and genetic services in LMICs. To our knowledge, this is the first review of this kind. Over the 32 years of study (1990–2022), 28 articles from 16 LMIC countries met the inclusion criteria.

The few relevant articles on HCPs’ KAPs may indicate the limited availability of genetic services in LMICs. HICs have been the forerunners in introducing and offering genetic testing for diagnosis and prenatal diagnosis, with research into genetics knowledge of pHCPs dating back to 1989 (Emery et al. 1999). In comparison, many LMICs lack comprehensive genetic services, reflecting the ongoing epidemiological transition in these countries – a process completed in most HICs decades ago (Malherbe et al. 2015).

Geographical overview and topics investigated.Eastern Mediterranean Region (EMR)

Research from this region included attitudes towards prenatal testing and TOP, haematological disorders, PIDs, pharmacogenomics and the provision of genetic services (Antoun et al. 2010; Ashfaq et al. 2013; Gilani et al. 2007; Nourijelyani et al. 2012; Robati and Farokhi 2013). A Jordanian study discussed attitudes toward genetics and biochemistry (Zahed et al. 2002). Many countries in the EMR, especially those with large Arab communities, exhibit higher consanguinity rates, which has led to an increased prevalence of congenital disorders (Dantas et al. 2015a, b). Surprisingly, this was only addressed in a few studies.

South-East Asia Region (SEAR)

A Sri Lankan HCP/research group published three articles on reproductive and genetic technologies, including TOP, from 2002 to 2005 (Dissanayake et al. 2002; Simpson et al. 2005; Simpson et al. 2003). They noted the unregulated emergence of IVF clinics in 1999. De Silva et al. (2008) examined TOP in Sri Lanka for specific genetic conditions: Down syndrome, haemophilia, spinal muscular atrophy I, and HD. Other studies explored late TOP for fetal anomalies (Phadke et al. 2011) and attitudes towards genome editing (Izzah et al. 2021). The scarcity of genetic education and resources in SEAR hinders the integration of genetic services, with ethical and equitable healthcare delivery being significant concerns exacerbated by socio-economic disparities (Rup et al. 2017). Despite WHO recommendations (World Health Assembly 2010), genetic services remain under-prioritised in LMICs, overshadowed by more immediate healthcare needs.

The Region of the Americas (AMR)

Brazil's early research included Brugada syndrome (Perez Riera et al. 2008) and articles from the Federal University of São Paulo on PIDs and non-communicable diseases (Dantas et al. 2015a, b; Ferreira et al. 2015; Melo et al. 2015). Genetic healthcare services were investigated (Iriart et al. 2019; Lopes-Junior et al. 2017), possibly prompted by the health system's response to the Zika outbreak (Pan American Health Organisation 2016). A 1999 study in Mexico investigated HD diagnostics (Alonso Vilatela et al.), an interesting topic in the evolution of genetic education, with genetics becoming mandatory in medical training only since 1996. Despite Mexico's estimated 5% prevalence of genetic disorders (Christianson et al. 2006), limited research exists on CDs (Dantas et al. 2015), reflecting a gap in genetics-related services and knowledge.

Africa (AFR)

Four articles in four countries of the 47 LMICs were included. Many African countries face a high burden of SCD. Three articles focused on pregnancy and SCD (Aboagye et al. 2019; Adeyemi and Adekanle 2007; Wonkam and Hurst 2014), the most common monogenic disorder in AFR (Rees et al. 2010) with a high birth prevalence in parts of sub-Saharan Africa (SSA) due to selection advantage with malaria (Piel et al. 2017). In Cameroon, where there is no universal health care or medical insurance, non-communicable diseases (NCD) such as SCD represent an increasing health burden (Wonkam and Hurst 2014), with SCD carrier rates estimated at 1 in 4 people (Adeyemi and Adekanle 2007). Although national SCD control programmes are partially implemented in these African countries, care for SCD-affected individuals is still lacking (Adeyemi and Adekanle 2007; Wonkam and Hurst 2014). Researchers have started assessing the integration of genetic services in primary healthcare, an ideal site for screening, antenatal care, and early childhood treatment of genetic conditions. Quinonez et al. (2019) investigated physicians’ genetics and genetic disease education in Ethiopia. The lack of capability due to personnel, expense, technology, infrastructure, and medical education was highlighted in implementing genetic services in LMICs equivalent to those in HICs. Successful strategies in HICs, such as prenatal diagnostic services, carrier screening programs, and newborn screening programmes, are lacking in many LMICs, leading to increased CDs.

Western Pacific Region

China and Malaysia published one article each (Ngim et al. 2013; Zhai et al. 2016), suggesting a lack of English language publications. Both articles discussed pregnancy and prenatal testing. The lack of NIPT coverage and affordability in China suggests that government funding would decrease the “societal burden of birth defects” and support national goals (Zhai et al. 2016). The availability of prenatal diagnosis and treatment for thalassemia at Malaysia’s public hospitals was investigated (Ngim et al. 2013). Despite progression, Malaysia lacks a formal rare disease definition, contributing to limited genetic healthcare resources (Shafie et al. 2020). An opportunity exists for pHCPs, government, and society to shape policy for genetics services that include epidemiological needs and appropriate resources (human, financial, structural) and include religious and social circumstances.

Timeframe of publications

Within the study's time frame, a single article predates the year of the publication of the human genome (Alonso Vilatela et al. 1999). In the subsequent decade, nine studies were published, and an additional 18 were published from January 2010 to April 2022.

The ascending trend in the number of relevant publications originating from LMICs is encouraging. It suggests an increasing recognition of the need for clinical genetic services in the post-genomic era following the publication of the human genome. It may reflect the growing awareness and acceptance of the pivotal role of clinical genetic services in healthcare, particularly in LMICs. It is hoped that the medical curricula in LMICs' medical schools will continue to update their genetics content in the programme, enabling future pHCPs with improved genetic knowledge to provide genetic services for affected individuals and families.

Qualitative framework

The thematic framework (Fig. 5) was used to contextualise and evaluate the qualitative component of this review.

Lack of genetic knowledge

Fifteen articles report a lack of genetic knowledge among pHCPs, affecting their ability to deliver quality genetic service and manage patients with genetic disorders (Suther and Goodson 2003). Self-rated assessments show knowledge ranged from very knowledgeable to insufficient, emphasising the need for continuous educational interventions (Aboagye et al. 2019; Alfaqih et al. 2019; Alonso Vilatela et al. 1999; Ashfaq et al. 2013; Dantas et al. 2015a, b; Ferreira et al. 2015; Iriart et al. 2019; Nourijelyani et al. 2012; Perez Riera, Filho, Uchida receivingokhi 2013) (Watson et al. 2001). Knowledgeable pHCPs reported receiving genetics education through additional graduate degrees, continuing medical education (CME) courses or board certification. Research shows that in the USA, Canada, Europe and HICs in Asia, there is a drive for better genetic education of non-genetics pHCPs, including service delivery (Chou et al. 2021; Talwar et al. 2017).

However, gaps remain, such as a lack of knowledge in prenatal screening and familiarity with relevant legislation such as the Medical TOP Act (Phadke et al. 2011). The lack of genetic training in countries like Ethiopia further hamper service delivery (Quinonez et al. 2019). Systematic reviews like that by and Tarini (2015) confirm that these educational and skill barriers compromise patient healthcare.

Lack of basic genetic concepts

Both pHCPs and nurses lack specific genetics knowledge, including prevention, prenatal screening, inheritance patterns, and informative family history collection (Alonso Vilatela et al. 1999; Ferreira et al. 2015; Melo et al. 2015; Quinonez et al. 2019). The needs assessment in Ethiopia (Quinonez et al. 2019) evaluated pHCPs’ experiences and proposed a way forward for genetic epidemiological studies. The results signify that well-integrated and supportive tools could enhance the effectiveness of genetic services by improving data collection and ultimately contributing to more informed decision-making and policy development in genetic services.

Clinical guidelines

Knowledge of and attitudes towards international, e.g., Center for Disease Control (CDC), national and local guidelines and protocols was poor. Ferreira et al. (2015) reported that only half of the pHCPs advised the use of folic acid for pregnant women, recommended as standard supplementation as far back as 1991 (MRC Vitamin Study Research Group 1991). Many LMICs now have folic acid fortification of foods, such as wheat or maize flour, but vary greatly in fortification legislation and implementation [Global Fortification Data Exchange. Map: Quantity and Proportion of Food Vehicle that is Fortified. http://www.fortificationdata.org Accessed 14/1/2024]. Only 10% of pHCPs reported knowledge of the international guidelines for genetic testing of Huntington’s disease (Alonso Vilatela et al. 1999). This deficit highlights the need for global education regarding guidelines and recommendations for CD treatment and care.

Emerging technologies

Many pHCPs are challenged with integrating current genetic knowledge into practice and risk being left behind in a rapidly evolving genomics era. Staying abreast of genetic advancements, including pharmacogenomics, WGS, whole genome association studies, and epigenetics, is challenging (Alfaqih et al. 2019; Dantas et al. 2015a, b; Izzah et al. 2021; Nourijelyani et al. 2012). Educational interventions, including continuing professional development (CPD) programmes, available online, through journals and conferences, and educational initiatives with access to genetic/genomic experts in other countries, are essential to update pHCP on the latest genetic developments, which could enrich their knowledge and contribute to patient care. Access, however, may be limited in LMICs, especially in under-resourced rural, poor, or sparsely populated areas.

Most pHCPs were reported to be optimistic about the impact of these emerging technologies (at the time of publication) on genetics and care. The role of genetics in designing targeted therapies in genetic variations which determine disease susceptibility was understood (Alfaqih et al. 2019). A similar attitude was noted with PGD for infertility (Dissanayake et al. 2002), implementation of NIPT in China (Zhai et al. 2016), and the future possibility of genome editing to treat fatal or debilitating diseases at both the embryonic and somatic levels in Indonesia (Izzah et al. 2021). Negative attitudes were expressed towards genome editing when it was applied to non-health-related aspects, i.e., eugenic uses (Izzah et al. 2021). The ethics of reproductive choices is intertwined with religious and moral belief systems, which differ within and between countries and individual pHCPs.

Lack of knowledge of specific conditions

PHCPs in the Middle East were found to underutilise genetic testing and services; the reasons needed to be clarified and explored, but lack of education, knowledge and expertise were thought to contribute (Antoun et al. 2010). Awareness and early identification of PIDs were more specifically reported (Nourijelyani et al. 2012). Lopes-Junior et al. (2017) concluded that pHCPs felt unprepared to provide genetic services in primary healthcare. Only 16% of pHCPs in Ethiopia reported that their genetics knowledge was sufficient for their practice, and most pHCPs were interested in further genetics education (Quinonez et al. 2019).

Existence of and referral to genetic services

The referral of patients in existing health systems in LMICs is challenging, as pHCPs lack awareness of existing genetic facilities, travelling distances, out-of-pocket expenses, and the time patients need to access these services. Chou et al. (2021) report on global barriers to accessing genetic services, identifying 12 HICs and one LMIC in their scoping review. While countries at all levels of development experience these challenges, in LMICs, this is compounded by other barriers and shortfalls in healthcare, exampled by pHCPs who are unaware of genetic services in their region and are less likely to order genetic tests, impacting healthcare quality for patients (Freedman et al. 2003). However, in LMICs, infrastructure, transport, sustainability, and funding remain persistent challenges to a greater degree (Olufadewa et al. 2021). Iriart et al. (2019) reported a lack of referrals from inland rural Brazil to the capital cities and urban centres, where genetic services are offered. Transportation challenges and travel costs in a resource-poor country are cited as significant obstacles for patients, resulting in a reluctance to refer by pHCPs. Strategies to expand and decentralise genetic healthcare may contribute to increased access to these services in LMICs.

Availability of genetic tests

Simpson et al. (2005) reported that although access to PGD in Sri Lanka was limited, many issues impacted HCPs' attitudes towards offering this. TOP is illegal in Sri Lanka unless the mother’s life is endangered. The authors commented on the “futility factor” of prenatal testing because of the continued illegality of TOP.

An interesting finding was that the availability of genetic services was not always related to their rate of use (Antoun et al. 2010). Middle Eastern countries have genetic testing and services available. Still, they are under-utilised, partially because pHCPs lack knowledge about genetic conditions, testing, and awareness of genetic services in their region. However, pHCPs still favoured referring to genetic services rather than counselling and requesting genetic testing, thus highlighting the importance of the availability of genetic services.

Attitudes of primary health care practitioners towards Genetic services

Nineteen articles highlighted a consensus on the importance of genetic testing and counselling, with positive attitudes prominent among general practitioners (GPs) and pHCPs towards genetic services and integrating genetic counsellors into existing healthcare infrastructures to improve genetic services in general (Alfaqih et al. 2019; Alonso Vilatela et al. 1999; Ashfaq et al. 2013; Gilani et al. 2007; Melo et al. 2015). Moreover, supportive attitudes