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When is the Use of Race/Ethnicity Appropriate in Risk Assessment Tools for Preconceptual or Antenatal Genetic Screening and How Should it be Used?

In the UK a ‘Family Origin Questionnaire’ (FOQ) has been introduced as a decision-making tool primarily to identify partners of high risk status in ‘low prevalence’ areas in antenatal screening for haemoglobin variants. A ‘family origins’ laboratory form for Down’s syndrome antenatal screening has followed, with active consideration of Tay Sachs Disease antenatal/ pre-conception carrier screening for Ashkenazi Jewish women. Similar screening developments for the haemoglobinopathies and cystic fibrosis are occurring in other countries. It is timely to ask when and how categories based on family origin concepts should be operationalised and used to assess genetic risk, given the methodological uncertainties and potential risk of offence, essentialisation, discrimination and/or stigmatisation. The potential limitations of these tools are examined, including generic concepts, social sensitivities of language, issues of testing, implementation, and training, and time-limitedness of the categories, to assess where the balance lies between the benefits and disadvantages of such usage.