Pitfalls in Tay-Sachs carrier detection: physician referral patterns and patient ignorance

Tay-Sachs carrier detection testing prior to pregnancy is more desirable than intra-pregnancy testing because it is technically easier, less expensive, and associated with less anxiety and less urgency. However, more than 80% of individuals referred for testing were pregnant women and/or their partners. The literature of the last several years has been silent on these and related issues. A questionnaire designed to determine the factors responsible for these circumstances was sent to 404 physicians (231 obstetrician/gynecologists and 173 internists and family physicians). Of the delivered questionnaires, 49.5% were completed and returned. The majority of obstetrician/gynecologists responding refer patients for Tay-Sachs carrier detection. Internists and family physicians do not, and their responses indicate a lack of pertinent knowledge. In addition, despite physician referral, patients delayed testing until pregnancy. While educational efforts have been targeted to obstetrician/gynecologists, expanded educational activities for internists, family physicians, and patients are required.