Assessing patient recall, understanding, and vocabulary of genetic concepts, in a South African setting

Abstract

Introduction: Effective communication between the patient and the genetic counsellor is necessary for a good outcome. However, for a multilingual nation like South Africa, English is the preferred language in the healthcare setting, often leading to miscommunication between a healthcare professional and a patient. Currently, no African vocabulary exists for genetic terminology which may impede patients’ understanding during genetic counselling sessions. Aims: This study aimed to assess counsellees’ recall and understanding of genetic concepts discussed during a genetic counselling session for Down syndrome, and to develop a suitable South African-specific vernacular genetic vocabulary. Methods: A quantitative, cross-sectional study was performed. Fourteen participants were recruited from the State Genetic Clinics of the National Health Laboratory Service and the University of the Witwatersrand, Johannesburg. Participants were interviewed immediately postgenetic counselling. Data were collected using a questionnaire that focused on demographics, genetic recall and understanding, and language usage. Illustrations of genetic concepts were used to assess recall and understanding. Participants were also asked to list clinical features of Down syndrome. The questionnaire was scored out of 29. In addition, participants were asked to provide terminology or analogies in their home languages for genetic terms. Data were analysed descriptively. Results: Participants represented six ethno-linguistic groups (Northern Sotho, Sesotho, Setswana, Xitsonga, isiZulu, and isiXhosa). The majority of participants (11/14, 78.6%) were mothers of children with Down syndrome, followed by fathers (2/14, 14.3%), and a grandmother (1/14, 7.1%). The median (interquartile range) age of the participants was 39 (37.3 - 41.0) years. Mean (standard deviation) number of years of formal schooling was 12 ± 2.18 years and the majority of the participants (13/14, 92.9%) had studied biology or life sciences. Participants obtained an average score of 22/29 (75.9%) for recall and understanding. The majority of them (12/14, 85.7%) could list two or more clinical features of the condition. Whilst some individuals could provide words to describe some of the genetic terms, others provided explanations or analogies. There were suggestions for all the genetic terms in isiZulu, for example “isicubu” (cell), and “ufuzo” (inherited/inheritance), whereas there was only one suggestion for the term “lee” (egg) in Setswana. Discussion: Most participants were able to recall information and demonstrated a good understanding, indicating the effectiveness of genetic counselling. The proposed words for genetic terms and explanation/analogies can be utilised by South African genetic counsellors to facilitate better understanding of these terms during a genetic counselling session for non-English speaking counsellees