Factors influencing the referrals in primary care of asymptomatic patients with a family history of cancer

Purpose: To describe the events and the reasoning that led UK general practitioners to make a direct referral to a genetics clinic for a family history of cancer. Methods: Asymptomatic patients with a family history of cancer and general practitioners who had referred them to a genetics clinic were eligible to participate. Semi-structured interviews incorporating a self-completed questionnaire were conducted with the general practitioners. Questions about the referral had to be framed in general terms as few general practitioners could remember the index case. Individual face-to-face interviews based on a topic guide were conducted with the patients. Results: Thirty-six of 54 eligible general practitioners and 71 asymptomatic patients with a family history of cancer completed the study. General practitioners adopted a reactive rather than proactive role in the provision of genetic services for asymptomatic patients with a family history of cancer. Most general practitioners favored cancer diagnostic clinics as a referral pathway, and made a referral to genetics only when patients or a hospital doctor specifically requested this. More idiosyncratic approaches to the referral decision were also encountered. Updating of skills and knowledge in genetics remained a low priority despite acknowledged inadequacies. Conclusions: Referral guidelines that are practicable in the context of a busy primary care clinic need to be developed if primary care practitioners are to play the major role desired for them in genetics. Genet Med 2008:10(10):751-757.