How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exercise

Abstract

Objectives: (1) To explore professional and lay stakeholder views on the design and delivery of services in the area of consanguinity and genetic risk. (2) To identify principles on which there is sufficient consensus to warrant inclusion in a national guidance document. (3) To highlight differences of opinion that necessitate dialogue. (4) To identify areas where further research or development work is needed to inform practical service approaches.

Design: Delphi exercise. Three rounds and one consensus conference.

Setting: UK, national, web-based and face-to-face.

Participants: Recruitment via email distribution lists and professional networks. 42 participants with varied professional and demographic backgrounds contributed to at least one round of the exercise. 29 people participated in statement ranking across both rounds 2 and 3.

Results: Over 700 individual statements were generated in round 1 and consolidated into 193 unique statements for ranking in round 2, with 60% achieving 80% or higher agreement. In round 3, 74% of statements achieved 80% or higher agreement. Consensus conference discussions resulted in a final set of 148 agreed statements, providing direction for both policy-makers and healthcare professionals. 13 general principles were agreed, with over 90% agreement on 12 of these. Remaining statements were organised into nine themes: national level leadership and coordination, local level leadership and coordination, training and competencies for healthcare and other professionals, genetic services, genetic literacy, primary care, referrals and coordination, monitoring and evaluation and research. Next steps and working groups were also identified.

Conclusions: There is high agreement among UK stakeholders on the general principles that should shape policy and practice responses in this area: equity of access, cultural competence, coordinated inter-agency working, co-design and empowerment and embedded evaluation. The need for strong national leadership to ensure more efficient sharing of knowledge and promotion of more equitable and consistent responses across the country is emphasised.

Keywords: autosomal recessive; consanguinity; cousin marriage; delphi consensus; genetic risk; healthcare equity.