Utilization of genetic counseling after diagnosis of a birth defect-trends over time and variables associated with utilization

Abstract

Purpose: To examine utilization of genetic counseling after diagnosis of a birth defect in 2004, and trends in utilization from 1991 to 2004. Methods: Birth defects data for births in 2004 were linked to genetic counseling data to determine utilization of genetic counseling in Victoria, Australia. Variability in utilization was determined according to the need for genetic counseling (as indicated by the particular birth defect), and demographic and perinatal variables. Trends in utilization were determined by comparing 2004 data with that of earlier studies using the same data sources for birth defects cohorts in 1991, 1993, and 1995. Results: Frequency of overall utilization was 20% and was not affected by maternal country of birth, socioeconomic advantage/disadvantage, or region of residence. Higher-than-average utilization was strongly predicted by “high-need” (48.4%), infant death (stillbirth 50%, postnatal death 50.4%), or birth in a tertiary level hospital (28.5%). There was an upward trend in the proportion of the high-need group using genetic counseling, progressively increasing from 39.7% in the 1991 cohort to 42.5% in the 1993 cohort, 46.5% in the 1995 cohort, to a high of 48.4% in the 2004 cohort. Conclusions: Utilization by those who most need it has gradually increased from 1991 to 2004, with no inequity of access apparent in the most recent cohort. Further studies are needed to determine whether high-need families not using genetic counseling are not doing so because of chance or choice. © 2009 Lippincott Williams & Wilkins, Inc.