The missing element: Consanguinity as a component of genetic risk assessment

Abstract

Purpose: There are no clinical practice data regarding collecting information on consanguinity as part of family history, despite its relevance for identifying at-risk pregnancies. We determined current practice and influencing factors in documenting consanguinity as part of pregnancy assessment by midwives, key health professionals in socialized medicine. Methods: Data were gathered from midwives in Victoria, Australia, which contains an ethnically heterogeneous population. Current practice and issues influencing practice including frequency of enquiry and attitudes regarding collecting consanguinity and family history information were documented. Results: Family history is collected by midwives, but is restricted to medical information only. Although 65.1% of midwives collect family history, only 6.4% ask about consanguinity. Direct questioning about consanguinity was seen to be difficult, reflecting social taboos, with discussion usually prompted by patient disclosure. The factor significantly associated with clinical practice in multivariate analysis was midwives' lack of confidence (adjusted odds ratio: 5.3 [95% confidence interval 1.3-22.1]) in discussing consanguinity. Conclusions: Organizational and social barriers prevent collecting information about consanguinity in midwifery practice, restricting identification of at-risk pregnancies. Change theory is applied to inform strategies to enhance the identification of consanguineous couples.