Advancing the communication of genetic risk for cardiometabolic diseases: a critical interpretive synthesis

Abstract

Background

Genetics play an important role in risk for cardiometabolic diseases—including type 2 diabetes, cardiovascular disease and obesity. Existing research has explored the clinical utility of genetic risk tools such as polygenic risk scores—and whether interventions communicating genetic risk information using these tools can impact on individuals’ cognitive appraisals of disease risk and/or preventative health behaviours. Previous systematic reviews suggest mixed results. To expand current understanding and address knowledge gaps, we undertook an interpretive, reflexive method of evidence synthesis—questioning the theoretical basis behind current interventions that communicate genetic risk information and exploring how the effects of genetic risk tools can be fully harnessed for cardiometabolic diseases.

Methods

We obtained 189 records from a combination of database, website and grey literature searches—supplemented with reference chaining and expert subject knowledge within the review team. Using pre-defined critical interpretive synthesis methods, quantitative and qualitative evidence was synthesised and critiqued alongside theoretical understanding from surrounding fields of behavioural and social sciences.

Findings

Existing interventions communicating genetic risk information focus predominantly on the “self”, targeting individual-level cognitive appraisals, such as perceived risk and perceived behavioural control. This approach risks neglecting the role of contextual factors and upstream determinants that can reinforce individuals’ interpretations of risk. It also assumes target populations to embody an “ascetic subject of compliance”—the idea of a patient who strives to comply diligently with professional medical advice, logically and rationally adopting any recommended lifestyle changes. We developed a synthesising argument—“beyond the ascetic subject of compliance”—grounded in three major limitations of this perspective: (1) difficulty applying existing theories/models to diverse populations, (2) the role of familial variables and (3) the need for a life course perspective.

Conclusions

Interventions communicating genetic risk information should account for wider influences that can affect individuals’ responses to risk at different levels—including through interactions with their family systems, socio-cultural environments and wider health provision.

Protocol registration

PROSPERO CRD42021289269