This study aimed to investigate genetics knowledge, behaviours and attitudes towards genetic services and testing amongst GPs and other HCPs (non-genetic specialists, pathologists and physiotherapists) in the Gauteng province of SA. In this study, we have demonstrated through empirical evidence, that genetics knowledge, appropriate attitudes, and practices of genetics in everyday healthcare are lacking. HCPs do not have the necessary knowledge/skills/behaviour/ability to cope with the increasing demand for genetic testing. They appear unprepared for the implementation of new genetics and genomics into everyday practice.
Genetic Knowledge
In recent times, societal expectations placed on HCPs concerning understanding, testing, and treatment of genetic conditions have increased. This heightened expectation is likely caused by the public’s increased awareness and education about genetics, linked to the increasing availability of diagnostic and direct-to-consumer tests, which can provide insight into their future health. HCPs are expected to interpret and apply genetic information to patient care.
Seventy percent (43/61) of HCPs in this study self-rated their genetics knowledge as either poor or very poor. This was corroborated by the lack of knowledge demonstrated by respondents in the questionnaire. This finding is in keeping with other studies undertaken worldwide, in HIC such as Canada, Italy, Netherlands, and Switzerland, (Baars, Henneman, Ten Kate 2005; Carroll, Allanson, Morrison et al. 2019; Chow-White, Ha, Laskin 2017; Harvey, Fogel, Peyrot et al. 2007; Panic, Leoncini, Di Giannantonio et al. 2014).
Equally in HICs, HCPs have limited genetics knowledge, including carrier rates of common genetic conditions in certain population groups, such as haemoglobinopathies, or cystic fibrosis, how to assess common cancer risks where there is a positive family history, or understanding and communicating genetic risk in reproductive choices (Aalfs, Smets, De Haes, Leschot 2003; Emery, Watson, Rose, Andermann 1999; Harris, Lane, Harris et al. 1999). Factors that contribute towards the lack of genetics knowledge include the low probability of encountering a genetics case in everyday practice, lack of evidence of the usefulness of genetic tests and financial barriers (Acheson, Stange, Zyzanski 2005; Bathurst and Huang 2006).
One additional aspect to consider in the lack of genetics knowledge in SA HCPs is the age range and the exposure to genetics education during undergraduate studies. This cohort of HCPs has a 50-year age range, with many qualifying during the early stages of the development of genetic services in SA.
Cytogenetic services first became available in SA in the 1960s, followed by the private sector in the late 1980s (Jenkins 1990). Relevant techniques were not commonly available in SA, and local molecular genetic services were rudimentary and limited in the country in the early 1980s. Genetic information and technology is a rapidly changing field of healthcare, and a continuous effort is required to keep updated. Opportunities to do so may be limited or may be overwhelming, with the expanse of genetic testing and services now available.
Primary HCPs may be under pressure due to their existing workload and the large number of patients to be seen within a specific timeframe; this time limitation puts pressure on HCPs to assess, diagnose and treat a patient within that limited period. Patients with genetic histories need to be cared for differently. A comprehensive family history can take up to 30 minutes, leaving no time for additional steps during a normal consultation (Bathurst and Huang 2006; Cusack, Hickerton, Nisselle et al. 2021).
Other possible reasons for the lack of comprehensive genetics healthcare at the primary healthcare level include limited genetics knowledge because of rapid advancements in genetic testing, other medical interests, perceived lack of patients with genetic issues, concentration on management and care, being overwhelmed in a state system, perceived lack of access to genetic services.
The challenges of including genetics in a GP medical practice are not limited to LMIC. Cusack, Hickerton, Nisselle et al. (2021) report that a lack of genetic knowledge and skills is reported in Australia, the Netherlands, the USA, Canada, Europe and the UK. Barriers to providing a genetic service in the practice include lack of confidence in genetic skills, long consultations, not keeping updated with knowledge, lack of evidence for the usefulness of genetic testing, and knowing who and where to refer to genetic services. Similar to the findings in this study, there was little genetics education apart from a few lectures in medical school.
There was no correlation between the number of years the HCP worked and their level of genetics knowledge, as genetics knowledge is likely more related to specific genetic education and training, with no investigation into the relationship between experience and gain of genetics knowledge over time (Haga, Kim, Myers, Ginsburg 2019; Harding, Webber, Ruhland et al. 2019). (Baars, Henneman, Ten Kate 2005)
The GPs' mean knowledge (-1.23 points) was more than that of the specialists (-2.5 points) but less than that of the pathologists (0.03 points) and physiotherapists (1 point). It is not meaningful to attach any statistical significance to these findings, due to the small number of specialists and physiotherapists in the sample population.
An interesting finding was that the majority (57%) of HCPs expressed some level of comfort or were not uncomfortable about discussing genetics with their patients, despite lacking the necessary genetics knowledge. This is upheld by Douma, Smets, Allain (2016); Harding, Webber, Ruhland et al. (2019), whose studies reported concerns about inaccuracy or misleading genetic information being shared with patients, sub-optimal use of genetic testing and missed referrals. Lapham, Kozma, Weiss et al. (2000), reported that few HCPs were confident in offering genetic services, especially if they lacked knowledge. However, in this study, lack of knowledge did not prevent appropriate behaviour associated with this knowledge, meaning that patients were referred appropriately regardless of their HCPs' knowledge. Truong, Kenneson, Rosen, Singh (2021) reported that HCPs were motivated to refer patients because they did not have the genetic knowledge. They further report that it is unclear when genetic referrals or testing are required. More research is needed in this area to understand the impact on patients and the consequences thereof. Potential risks for patients when HCPs have insufficient genetic knowledge include a misinterpretation of genetic results, inadequate appropriate counselling, inappropriate or lack of requests for genetic testing and incorrect management and treatment decisions.
Behaviour:
Assessing the behaviour of HCPs is challenging, and different approaches have been taken in the genetic environment, as indicated by the published literature on this topic. Flouris, Hawthorne, Aitken et al. (2010) measured behaviour as an assessment of skills. A literature review of core competencies required for HCPs by Tognetto, Michelazzo, Ricciardi et al. (2019) described skills as "abilities". These skills include gathering family histories using an internationally standardised format for a pedigree, identifying families with potential genetic conditions, explaining genetic risks, referring to genetics clinics, obtaining current information regarding the genetic condition, using new genetic technologies, and educating families and fellow HCPs about genetics (Jenkins, Blitzer, Boehm et al. 2001).
The specific concepts explored in the current study included the next steps required for appropriate management, including taking a family history, requesting genetic testing and how and when to refer to specialists and relevant genetic services. The survey questions related to these concepts were framed as open-ended scenarios to prevent information from being missed which may occur with closed questions, and prevent prompting responses (Flouris, Hawthorne, Aitken et al. 2010). When initially developed in Australia, this type of questioning was the first known example of using pre-coded, open-ended items to measure behaviour. (Flouris, Hawthorne, Aitken et al. 2010). To date, no other published studies have used this approach to assess the behaviour of HCPs in SA.
It is encouraging to observe that 93% of respondents answered with appropriate or very appropriate responses to further case management in the scenarios presented. Two pathologists and two GPs (6.9%) had an overall inappropriate response (inappropriate advice or lack of referral) to the scenarios posed. Three of the four qualified in the 1980s and one in the 1960s. While the data set is too small to make a direct correlation, older HCPs may be less familiar with behaviour associated with autosomal recessive conditions or with pregnancy screening. Three respondents did not answer any of the behaviour-related questions. It is unknown whether they were unsure how to respond, had not previously treated a patient with these conditions, or were unable to respond to the questions for other reasons (e.g., time constraints, lack of interest etc).
Responses to the behaviour question (question 2) regarding developmental delay were associated with the lowest overall scores (mean 1.9 points). Nevertheless, twelve of the 20 (60%) GPs recommended an appropriate referral (2 points) either to a paediatrician, developmental paediatrician, or neurologist. The term developmental delay encompasses a broad umbrella of conditions which include amongst others, physiological development, motor development, cognitive development and psychological development (Khan I 2023) and therefore appropriate referral to specialists who care for affected children is an encouraging finding.
Jenkins (1990) refers to unpublished research conducted by Op't Hof, regarding human genetics training at the seven medical schools in SA in the 1980s. One medical school is reported to offer no specific course in human genetics, five schools reported an average of 35 hours of training (ranging from 20 to 48 hours), and one school only provided two hours of human genetics training. It is unsurprising that with such limited focus on undergraduate education around genetics and genetic counselling, and minimal exposure of doctors to genetics training decades prior, would not perform well in either knowledge or behaviours towards genetic-based scenarios.
Interestingly, the behaviour response towards treatment for haemochromatosis was the most appropriate response for behaviour (mean score = 2.25 points for GPs, 2.59 points for pathologists and 2.75 points for specialists) and was the knowledge question with the poorest response. Many of the HCPs participating would likely have experience in managing a patient with haemochromatosis in their practice. It is therefore unsurprising that HCPs were aware of further testing steps for this common genetic condition, despite being unaware of the underlying genetic cause.
Attitude:
Fifteen questions scored using a Likert-scale response of strongly disagree to strongly agree, from − 2 to + 2 points per question, were used to assess attitudes. Six questions were framed in a negative manner (i.e., support groups are of little benefit to individuals/families), which were mixed with nine positively framed questions. This mix of question framing is to control for bias, to ensure a more comprehensive understanding of responses, and to check for consistency of responses, ensuring validity.
Total attitude scores ranged from 6 to 25 points from a possible range of -30 to 30 points, indicating, in general, a positive attitude towards genetics and testing. This survey used both positively framed (nine questions) and negatively framed (six questions) questions to provide more meaningful responses and reduce bias.
The one outlier response in the positively-posed questions specified that only older women should be offered prenatal genetic screening. Most HCPs strongly disagreed (39%) or disagreed (47%) with this, indicating that pregnant women of all ages should be offered prenatal screening. Since the original questionnaire was devised (Flouris, Hawthorne, Aitken et al. 2010), non-invasive prenatal screening (NIPT) has become more widely and commonly used globally, which enables prenatal screening for those women and families that can afford it. The 2020 American College of Gynecologists (ACOG) Practice Bulletin 226 recommends that all women should have access to prenatal screening and diagnostic testing for fetal chromosome abnormalities regardless of age. Our questionnaire, however, was distributed before the new American guidelines were released, with which local gynaecologists attempt to keep updated. HCPs that work with medical aid funding may be updated by the funders through their communication. Nevertheless, in the private healthcare setting in Gauteng, SA, which was the setting for the current study, where the majority of HCPs included in this study work, best practice screening methods would have been available, but possibly not affordable. Therefore, the responses toward prenatal screening that all women should be offered the option are more in keeping with the updated guidelines.
The outlier of the negatively phrased questions was regarding taking only a partial family history, where most HCPs agreed (34%) or strongly agreed (27%) with this. The reasons for this are unknown. Possible explanations include time constraints on HCPs and a lack of insight into the reasons for requesting a complete family history.
Other findings
Genetic conditions reported:
Haemochromatosis and Down syndrome were the genetic conditions indicated as requiring genetic testing most often. This is unsurprising since the incidences of these conditions in the SA population are reported as 1 in 300 (De Villiers, Hillermann, Loubser, Kotze 1999) and 1 in 525 respectively (Kromberg, Sizer, Christianson 2013). Twelve conditions were mentioned only once, indicating their rarity (Orphanet: an online rare disease and orphan drug database). Of the conditions reported, genetic testing for Wilson's disease and Bartter syndrome are the only ones not routinely offered in SA. It is difficult to comment on the availability of testing for "hepatic disorder" due to a lack of specificity. The remaining conditions reported in this questionnaire have genetic testing available in SA-based genetic laboratories. This is encouraging, indicating that appropriate genetic tests are available locally. However, currently, the associated costs may be prohibitive. Therefore, genetic testing is available locally, but HCPs are unaware of its availability. A comprehensive, accessible information site would enable HCPs to search for and find which genetic tests are available locally or overseas.
Genetic conditions where no genetic test is available:
This question was answered by 21% of respondents. However, of the eleven conditions reported not to be available, “inborn errors of metabolism” is too broad a category, and enzymatic testing for many of the conditions is available locally, particularly in the private sector. Genetic testing within SA is however available for MEN, VHL, pheochromocytoma, red cell membrane, haemoglobin variants, centronuclear myopathy, SMA carrier testing and the SDHB gene. Some genetic testing for subsections of the PIDs is also available. The responses to this survey question indicate that HCPs do not know where to access information on specific genetic tests, even though contact information for the genetics laboratories is available on pathology company websites., To fill this information gap efforts are currently underway by Rare Diseases South Africa NPC to develop a platform for genetic testing for HCPs (M Gomes, pers comm 19/9/2022).
Referral to a genetic counsellor:
It is encouraging to note that nearly two-thirds of GPs have referred patients to a genetic counsellor. However, it is concerning that many are unaware of the closest locations of genetic counsellors. This information is available online in various formats, including the Health Professionals Council of South Africa (Hpcsa) website and medical directories such as Medpages®. An online search would be sufficient to locate a genetic counsellor in the major cities in SA. In a geographically small province such as Gauteng, SA, the major centres of Johannesburg, Midrand, Centurion and Pretoria have at least 10 genetic counsellors available. The challenge lies in the overall lack of the number of trained genetic counsellors, the lack of genetic counsellors employed by the state sector (who only work in urban locations) as no new posts are being created and the lack of genetic counsellors in rural areas, where patients and families would face greater challenges including by travel costs and other related expenses and associated time away from employment.
New terminology:
The two questions on new terminology were included in this study as an updated addendum to the knowledge section of the original questionnaire. Genetic nomenclature has undergone extensive updating in the past decade. HCPs need to understand the newer terminology when reading the latest genetics literature and being able to interpret genetic reports. The "unsure" or “do not know” responses of 65% and 77% confirm that HCPs are not au fait with the latest terminology. Efforts to provide genetic education are suggested to overcome this knowledge gap.
Interest in a CPD workshop:
The majority (87%) of HCPs expressed an interest in attending a CPD workshop to enhance their genetic knowledge and skills. It is accepted that this may be a biased response since the focus of the questionnaire was to delineate the need for these aspects. However, the questionnaire could also have primed the awareness of the HCPs in how their genetics knowledge and skills were lacking in a rapidly moving medical field. Opportunities, especially in the genetics sphere, to attend CPD-accredited workshops are also attractive to maintain accreditation status as an HCP. Burke (2004) states that primary care providers will “benefit greatly” from genetic specialists developing educational tools and practice guidelines so that genetic information will be used appropriately in primary healthcare.
Limitations
The pre-developed survey used in this study was created in Australia, a HIC, and may be skewed towards the Australian public healthcare system in terms of genetic services and testing available. In comparison, this study was implemented in SA, an LMIC, which has a dual healthcare system with approximately 15.8% of the population belonging to medical aid schemes (Cowling 2023). Most of the SA population (> 84%) relies on state healthcare services (Department of Health 2017), which may differ significantly from healthcare services offered in Australia. The HCPs included in this study practice primarily in the private sector in SA.
There was a poor response rate from the HCPs approached, possibly indicating a lack of interest in the topic. This resulted in a small sample size, limiting the wider applicability of the findings from this study. The completeness and quality of responses were also a limitation, suggesting the length of the questionnaire may have been daunting, with some HCPs answering more superficially, possibly due to time constraints. Some sections of the survey remained uncompleted for three HCPs (genetic tests previously requested and genetic tests available in SA: Section 5).