Healthcare professionals’ perceptions of risk in the context of genetic testing for the prediction of chronic disease: a qualitative metasynthesis

Abstract

Advances in genomic technologies and a growing trend towards stratified and preventive approaches to medicine mean that increasing numbers of individuals may have access to information about their genetic makeup, and their risk of developing diseases. This is likely to impact on healthcare professionals involved in the delivery of genetic tests, or in supporting patients who are affected by a disease with a genetic risk factor. It is therefore important to understand healthcare professionals' perceptions about providing these services, and how they feel about communicating information about genetic risk to patients. This paper provides a systematic review and metasynthesis of qualitative research exploring healthcare professionals' perceptions of genetic risk in the context of predictive genetic testing for chronic disease. Healthcare professionals expressed a range of reservations about the utility of predictive testing in this context. Professionals judged patients' understanding of risk information to be limited and subject to bias and a range of sociocultural influences. Concerns about the psychosocial impact of genetic risk information were frequently cited, both in relation to individual patients and the wider impact on their families and communities. The need for provision of multidisciplinary support was described. The concept of responsibility was also an important theme. Healthcare professionals recognized the responsibility that accompanies risk knowledge, and that ultimately this responsibility lies with the patient, not the provider. Our analysis suggests that professionals' evaluation of the utility of predictive genetic testing is influenced not only by resource deficits, but may also be interpreted as a response to challenging ethical and social issues associated with genetic risk, that are not well aligned with current medical practice.

Perceptions of risk and predictive testing held by the first-degree relatives of patients with rheumatoid arthritis in England, Austria and Germany: a qualitative study

“…The semistructured interviews were guided by an interview schedule which was informed by a review of the qualitative literature exploring perceptions of risk and testing in those at risk of developing a chronic disease. 38 39 The interviews aimed to assess personal perceptions of risk; therefore, one-to-one interviews were conducted. In addition, an international multidisciplinary team of healthcare professionals, patient research partners and researchers working on the EuroTEAM project ( http://www.team-arthritis.eu ) reviewed and redrafted the interview schedule (see box 1 for sample questions from the final interview schedule).…”

Preferences of Patients and At-risk Individuals for Preventive Approaches to Rheumatoid Arthritis

“…Reviews of qualitative studies of stakeholder perceptions of predictive testing in other chronic diseases have highlighted challenging social and ethical issues associated with the provision of risk information, including concerns relating to information security and the potential for risk information to have a negative impact. 45,46 Qualitative studies of the symptoms experienced by patients with a diagnosis of clinically suspect arthralgia demonstrate that being 'at risk' of disease progression can have a considerable negative psychological impact [47][48][49] . On the other hand, a recent randomized controlled trial showed that personalized risk communication provided reassurance to first degree relatives of RA patients 50 .…”

Development and formative evaluation of patient research partner involvement in a multi-disciplinary European translational research project

“…An innovative aspect of the EuroTEAM project was that it encompassed both laboratory based science that addressed the identification of predictive biomarkers [33][34][35][36][37][38][39] and psychosocial research, that explored the perspectives of potential end-users of predictive tests for RA, and how disease related risk information could be communicated effectively to those at risk of developing RA in the future [40][41][42][43][44]. In order to ensure the quality and relevance of the research and to facilitate effective translation and dissemination of the research findings, PPI was considered an essential part of EuroTEAM from its inception.…”