Primary care professionals' perceptions of using a short family history questionnaire

Improving access for relatives at-risk of genetic conditions by building referral systems from primary care to genetic services is well recognised.

This study aimed to explore primary care professionals' (PCPs) views about using a short, seven-item family history questionnaire (S-FHQ) as an intervention for identifying at-risk relatives of patients with a genetic condition in routine primary care for referral to genetic services.

This qualitative study was conducted in the UK in 2013-14. Focus groups were held with 21 PCPs. The normalisation process theory (NPT) was used during analysis as the theoretical lens for exploring potential implementation and sustainability of the intervention.

In principle, participants were supportive of the S-FHQ. They initially expressed enthusiasm for the S-FHQ and identified benefits of its use. However, in discussions about its use in practice, they raised concerns about their expertise to deliver the intervention, implications for their workload, potential duplication with existing roles and services in secondary care, the ethical implications of its use in routine care and its acceptability to patients.

This study shows why even a short family history questionnaire, as an intervention for identifying at-risk relatives, is unlikely to be implemented by primary care professionals.