Genetic Screening and Lifestyle Prevention Strategies for Coeliac Disease: A Review of International Clinical Practice Guidelines

Background: Coeliac disease (CD) is a highly heritable autoimmune disease. Given the high risk among first-degree relatives, early screening and prevention are essential, yet clinical guidelines vary. This review analyzed clinical practice guidelines issued by leading European, British, and North American organisations over a 12-year period (2014–2026) regarding genetic screening and lifestyle/dietary prevention strategies. Methods: A systematic search was conducted across official databases of prominent societies (ESSCD, UEG, ESPEN, NASPGHAN, AGA, ESPGHAN, WGO, BSG, ACG) for English-language guidelines and position papers. Extracted statements addressing genetic testing (HLA-DQ2/DQ8) and early-life risk-modifying strategies were coded into three thematic domains: (1) genetic predisposition, (2) lifestyle prevention or (3) both. Results: Eleven manuscripts yielded 399 statements, categorized into genetic predisposition (n = 23, 5.8%), lifestyle prevention (n = 30, 7.5%) and integrated approaches (n = 2, 0.5%), with the remainder (n = 344, 86.2%) addressing unrelated clinical topics. Universal consensus confirmed the high negative predictive value of HLA-DQ2/DQ8 testing to rule out CD, whereas dietary strategies (breastfeeding duration and timing of gluten introduction) showed no protective effect. ESPGHAN exclusively provided evidence regarding early-life high-risk genotypes and concluded that risk-stratified dietary guidance based on specific HLA profiles remains currently unsupported. Conclusions: Current CD guidelines demonstrate substantial international consensus regarding the role of genetic testing in disease exclusion and risk stratification. However, recommendations integrating genetic susceptibility with preventive lifestyle interventions remain scarce. Future research should focus on generating robust evidence to support precision prevention approaches and facilitate the harmonization of international guidelines.