Providing Appropriate Genetic Information to Healthy Multi-Ethnic Carriers of Hemoglobinopathy in The Netherlands

Abstract

The aims of this study are: (i) to enquire whether informing healthy hemoglobinopathy carriers about their condition is a welcome initiative in The Netherlands; (ii) to study whether using information letters and thorough explanation is associated with presence or absence of undesired feelings or emotions. We have approached 100 multi-ethnic carriers previously diagnosed in our lab. All subjects had previously received our information letter through their physician who was supposed to have provided an explanation of the letter if required. We have enquired whether the subjects had experienced negative or positive emotions after receiving our diagnosis and explanation and to which degree, if they were sufficiently informed and satisfied and if they would have considered prevention in case of risk. The rate negative versus positive feelings was calculated using a numerical distribution. We have registered negative feelings in a rate that was directly proportional to the lack of information. While the number of registered negative feelings in well-informed carriers was very low it was more present in badly informed. Nevertheless, all participants found carrier information a welcome initiative and over 80% of them declared to be in favor of prenatal diagnosis in case of risk. Carrier information is essential for an informed reproductive choice and is welcome in a multi-ethnic society. Unfortunately, information is not always consequently provided and should therefore be imbedded in the ongoing national screening for Rhesus and infectious diseases available to all women in early pregnancy.