Benefits and burdens of genetic carrier identification

Janet K. Williams, University of Iowa
D. L. Schutte


This qualitative study experiences of adults requesting genetic-carrier testing for four autosomal-recessive and X-linked-recessive disorders. The sample consisted of 34 adults with a positive family history or membership in an ethnic group at risk for the inherited disorder. A semistructured interview guide was used to collect data during an interview 1 month after receipt of test results. Noncarriers experienced benefits of emotional relief and freedom to move ahead with reproductive planning. Carriers experienced burdens of sadness and loss of reproductive expectations. Some subjects in both groups experienced difficulty disclosing results to selected family members and expressed concerns regarding disclosure of testing to insurance providers.