A Pilot Study To Determine Whether Health Care Professionals Perceive Stigma In Heterozygote Carrier Identification And Disclosure Decisions

Abstract [from journal]

We conducted an empirical pilot study to assess the attitudes of health care professionals (HCPs) to the personal identification of heterozygote carrier status for two autosomal recessive conditions (cystic fibrosis and a hemoglobinopathy) and for an X‐linked disorder (Duchenne muscular dystrophy) using the Health Orientation Scale (HOS) and a modified HIV Stigma Scale. Attitudes towards carrier identification of children were also assessed. Three hundred and ten of 742 (42%) eligible HCPs fully or partly completed the survey. As measured with the HOS and the modified HIV scale, respondents had a more negative reaction to the hypothetical discovery of being a carrier for an autosomal recessive genetic condition that was less likely given their self‐identified ancestry. Female respondents had a more negative reaction on both scales to being a carrier for an X‐linked disorder than men thought their partners would feel. However, the differences found on the HOS and modified HIV scale are small and their clinical relevance unknown. Fifty‐seven percent of respondents agreed that parents should tell their children to keep their carrier status private with many (44%) agreeing that children who learn that they are carriers may suffer from a decrease in self‐esteem. The vast majority of respondents would inform immediate family members and HCPs of their carrier status, but would be unlikely to share this information with neighbors or employers. Further study is needed to develop a heterozygote genetic carrier stigma scale.