Background It is twenty years since the human genome was published. The role of the primary healthcare practitioner (pHCP) in diagnosing and caring for individuals with genetic conditions is envisioned to increase as this knowledge is applied to enable individualised treatment. It is imperative that their genetics knowledge and practices stay current and in line with local or international guidelines. Method This scoping review aimed to identify articles in the peer-reviewed, published literature to understand the knowledge, attitudes and practices of pHCP related to genetics, genetic testing and genetic services. Peer-reviewed, full text, journal articles in English focused on human genetics/genomics knowledge, attitudes and practices in low- or middle-income countries (LMIC) and published between January 1990 to April 2022 were included. Both quantitative and qualitative aspects of the literature were examined. Results Twenty-eight articles from 16 LMIC across five World Health Organisation (WHO) -defined regions met the inclusion criteria. The number of articles in LMIC has increased over the years and included articles ranged from 1991 to 2021. The South East Asia Region (SEAR) published the most articles (n=8; 29%) and the Western Pacific Region (WPR) the least (n=2; 7%). Ten countries published only one article each, whereas Brazil published the most (n=6; 22%). Eleven articles reported on single gene disorders (39%) and new technologies of pharmacogenomics and genome editing were reported once each (3%). Nineteen articles included aspects of attitude towards genetics, while eight included practices. Primary HCP lack of knowledge was evident in genetic diseases, emerging technologies, referral of patients to genetic specialists and clinical guidelines for managing genetic conditions. Attitudes towards genetic services and new technologies were generally positive. Barriers to genetic services identified, included inadequate genetic services and required capacity, financial limitations and religious reasons. Conclusions Addressing and implementing education of pHCP is necessary to enable appropriate care for patients and families in need. There is a lack of published literature in LMIC regarding pHCP genetic knowledge, attitudes and practices. More research is required on educational interventions for practising pHCP and how to improve their ability to care for patients and families with genetic conditions.
Background Genetic testing and services are becoming increasingly important in generalised healthcare. Genetic information is now used in the diagnosis and treatment of more common diseases and is no longer restricted to solely rare diseases. General practitioners and other primary healthcare practitioners are often the first port of call when a patient is seeking genetic information. However, many healthcare practitioners lack the appropriate knowledge and skills to assist patients with genetic-related health concerns. To date, there is no data available on the extent of knowledge, attitudes and behaviours (practices) of healthcare practitioners in the Gauteng province of South Africa. This project aimed to investigate the knowledge, attitude and behaviours towards genetics and genetic testing in healthcare practitioners practising in primary healthcare in the Gauteng province of South Africa. Methods A pre-validated questionnaire was adapted and implemented for the local healthcare environment in the private healthcare sector in Gauteng, South Africa. The questionnaire, presented online and in-person, investigated genetic knowledge, behaviours and attitudes towards genetics and genetic testing. Results Sixty-one healthcare practitioners responded to the questionnaire, of which 95% were trained at South African medical schools. General practitioners, pathologists, physiotherapists and specialists answered six questionnaire sections. Self-reported genetics knowledge was poor/very poor for 70% of participants. Current genetics knowledge is insufficient to cope with the anticipated demand for genetic information in primary healthcare. Ninety-three percent of respondents displayed appropriate behaviour when faced with genetics scenarios and showed positive attitudes towards providing, and referring to, genetic services. However, access to specific genetic information and resources was limited. Eighty-seven percent of participants expressed an interest in further genetic education linked to continuing professional development points. Conclusion Healthcare practitioners are interested in and expressed positive behaviours and attitudes towards genetics and genetic services, but do not yet have sufficient knowledge to cope with the increasing demand for genetic services.
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