Systematic follow-up and case management of the abnormal newborn screen can improve acceptance of genetic counseling for sickle cell or other hemoglobinopathy trait.

ABSTRACT

PURPOSE: Sickle cell or other hemoglobinopathy trait detected on the newborn screen provides an opportunity for genetic counseling of families at risk of having a child with a major hemoglobinopathy. However, follow-up of hemoglobinopathy trait is often fragmented and acceptance of counseling is low. We describe the results of systematic follow-up and case management of abnormal newborn screen and the effect on acceptance of counseling. METHODS: From July 1997 to June 2002, families of a newborn with hemoglobinopathy trait were notified by mail. In April 2003, an intensive trait follow-up protocol including letters, telephone calls, educational videos, and genetic counseling was implemented. Demographic information and follow-up activity were documented and tracked using an electronic database. RESULTS: From July 1997 to June 2002, 3095 families were notified by letter of a newborn with hemoglobinopathy trait and were offered genetic counseling. Of these, 165 (5.3%) received counseling by telephone and 60 (2%) underwent extended family testing. From April to December 2003, 694 families with a newborn with hemoglobinopathy trait were notified by mail. Of these, 362 (52%) families were reached by telephone. Of those contacted by telephone, 92% received genetic counseling via telephone, 57% were interested in family testing, and 12% scheduled an appointment. Additionally, 27% of families were mailed an educational video. Among those declining extended family testing, 26% preferred to consult their pediatrician. CONCLUSIONS: Systematic follow-up and case management of abnormal newborn screen can improve the acceptance of genetic counseling.