Does screening for a modifiable genetic condition cause distress? Abundance of opinion and paucity of data

Background: We report on a systematic review on the social and psychological aspects of screening for Familial Hypercholesterolaemia (FH), a modifiable genetic condition. A20 Society for Social Medicine www.jech.com Objective: To assess whether the deleterious social and psychological effects of screening for FH have been demonstrated and whether they would outweigh potential benefits. Methods: A systematic search of the electronic databases was conducted and known researchers in the field were contacted. A data assessment tool was designed to assess the quality and validity of the papers because available guidelines for systematically reviewing papers concentrate on quantitative methods and are of limited relevance. We developed an algorithm which could be used for both the qualitative and quantitative literature. Results:We found sixteen papers which reported primary research. A further 21 papers expressed opinions unsupported by data. Methodological weaknesses were apparent in many study designs. The generalisability was limited, follow-up periods were short and often focussed on a pre-determined range of adverse effects. Interventions were poorly described, limiting transferability. ‘Counselling’ was repeatedly recommended, but the content was undefined and its effectiveness was untested. Fear of genetic discrimination was occasionally reported, but the problem may be larger and unreported due to such fears. Conclusion: It is important to distinguish between opinion papers and empirical research. The weak evidence suggests that any negative effects of screening for FH in adults is short-term. More, and better, qualitative work may reveal a wider and unexpected range of adverse effects of screening. Adequately designed qualitative and quantitative research is urgently needed, and screening for FH on a population basis should not be introduced until this has been undertaken.