Hereditary diffuse gastric cancer: updated clinical practice guidelines.

Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is largely caused by inactivating germline mutations in the tumour suppressor gene CDH1, although pathogenic variants in CTNNA1 occur in a minority of families with HDGC. In this Policy Review, we present updated clinical practice guidelines for HDGC from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in gastric cancer risk between families with HDGC, the growing capability of endoscopic and histological surveillance in HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients. To redress the balance between the accessibility, cost, and acceptance of genetic testing and the increased identification of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly through less restrictive age limits. Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, there is increasing confidence from the IGCLC that endoscopic surveillance in expert centres can be safely offered to patients who wish to postpone surgery, or to those whose risk of developing gastric cancer is not well defined.

How is family health history discussed in routine primary healthcare? A qualitative study of archived family doctor consultations.

OBJECTIVES: Family health history underpins genetic medicine. Our study aimed to explore language and patterns of communication relating to family health history observed in interactions between general practitioners (GPs) and their patients within routine primary care consultations. DESIGN: Secondary analysis of patient and GP routine consultation data (n=252). PARTICIPANTS: Consultations that included 'family health history' were eligible for inclusion (n=58). PRIMARY OUTCOMES: A qualitative inductive analysis of the interactions from consultation transcripts. RESULTS: 46/58 conversations about family health history were initiated by the GP. Most discussions around family history lasted for between approximately 1 to 2 min. Patients were invited to share family health history through one of two ways: non-specific enquiry (eg, by asking the patient about 'anything that runs in the family'); or specific enquiry where they were asked if they had a 'strong family history' in relation to a particular condition, for example, breast cancer. Patients often responded to either approach with a simple no, but fuller negative responses also occurred regularly and typically included an account of some kind (eg, explaining family relationships/dynamics which impeded or prevented the accessibility of information). CONCLUSIONS: Family health history is regarded as a genetic test and is embedded in the sociocultural norms of the patient from whom information is being sought. Our findings highlight that it is more complex than asking simply if 'anything' runs in the family. As the collection of family health history is expected to be more routine, it will be important to also consider it from sociocultural perspectives in order to help mitigate any inequities in how family history is collected, and therefore used (or not) in a person's healthcare. Orientating an enquiry away from 'anything' and asking more specific details about particular conditions may help facilitate the dialogue.