Self-reported cancer family history is a useful tool for identification of individuals at risk of hereditary cancer predisposition syndrome at primary care centers in middle-income settings: a longitudinal study

Abstract

Analysis of cancer family history (CFH) offers a low-cost genetic tool to identify familial cancer predisposition. In middle-income settings, the scarcity of individual records and database-linked records hinders the assessment of self-reported CFH consistency as an indicator of familial cancer predisposition. We used self-reported CFH to identify those families at risk for hereditary cancer syndromes in community-based primary care centers of a low-income Brazilian area. We also evaluated the consistency of the information collected by reassessing CFH five years later. We interviewed 390 families and constructed their pedigrees for genetic cancer risk assessment. We found 125 families affected by cancer, 35.2% with moderate to high risk of familial susceptibility to cancer, a number that represents a relatively high prevalence of potential hereditary cancer syndromes in the overall study sample. Upon reassessment of CFH in 14/20 families that were previously identified as having at least one first-degree and one second-degree relative affected by cancer, and presented moderate to high risk for developing cancer, 90% of initial pedigrees were confirmed. These results demonstrate the reliability of self-reports as a means of early identification of healthy individuals at risk, encouraging the wider use of this method in low- and middle-income primary care settings.

Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross‐sectional study

“…Another challenge identified in our study is the accurate documentation of family history (Qureshi et al ., ). Family history has been described as a key element in disease prevention and has been proposed as the main low‐cost genomic technology to evaluate the risk of a recurrent disease with genetic predisposition in family practice (Valdez et al ., ; Maradiegue et al ., ; Flória‐Santos et al ., ). Many participants (44.4%) had never used pedigrees as a tool to register family history, reinforcing findings in previous reports indicating that this tool is underutilized (Qureshi et al ., ).…”

“…In Brazil, almost all patients and families affected by genetic illnesses are largely unfamiliar with their clinical condition (Flória‐Santos et al ., , ; Silva et al ., ). The government needs to provide more financial support for the inclusion and integration of genetic services in primary care in order to establish more effective family practice (Lopes‐Júnior et al ., ; Passos‐Bueno et al ., ; McWalter et al ., ).…”

Breastfeeding and acute lymphoblastic leukaemia: potential leukemogenesis in children in developing countries

“…Data were taken from the outpatient clinics by direct interviews with the care givers by the treating physicians. Family history was also taken from the care givers as self-reported family history was found to be a reliable method to determine the risk of being predisposed to cancer of individuals [11]. A caregiver is the legal guardian of the child who is responsible for the care of the child.…”

Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes

“…Fourteen of these were cross-sectional studies, 2,20-32 two were retrospective studies, 15,33 and six were qualitative 4,9,[34][35][36][37] (of which four involved semi-structured interviews 4,34,35,37 ). There were 13 intervention studies, [38][39][40][41][42][43][44][45][46][47][48][49][50] comprising three validation studies, 38,47,50 one beforeafter study, 49 three hybrid implementation studies, 42,45,48 one comparison against standard care, 40 two comparative studies, 41,44 and three observational studies. 39,43,46 Three studies were cluster RCTs [51][52][53] and two were descriptive feasibility studies.…”

“…54,55 Populations studied All studies involved both male and female patients or their GPs, except for one, 35 which comprised only female patients and female practitioners. Fourteen studies were carried out in the UK, 2,4,[20][21][22]25,34,41,44,[49][50][51]54,55 17 in North America, 9,15,23,[27][28][29][30][31]35,37,39,42,43,45,48,52,53 two in South America, 38,47 and two in Australia. 33,36 The remaining four were conducted in the European Union 26,32,40,46 (the Netherlands, Belgium, and Spain), and one study reported data from four countries across Europe, 24 namely the UK, France, Germany, and the Netherlands.…”