Healthcare practitioners’ knowledge, attitudes and practices of genetics and genetic testing in low- or middle-income countries - A scoping review

Abstract

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.