Genetic counseling utilization by families with offspring affected by birth defects, Hawaii, 1986–2003

Abstract

Information on the genetic counseling facility utilization by families with offspring affected by birth defects in the United States is limited. The intent of this study was to report on genetic counseling utilization in Hawaii. Cases were all infants and fetuses of any pregnancy outcome with major birth defects included in a Hawaii birth defects registry and delivered during 1986-2003. The genetic counseling facility utilization rates were determined for various factors and evaluated for significance by calculating the rate ratio (RR) and 95% confidence interval (CI). Of 15,104 total cases, genetic counseling facilities were utilized in 1,596 (10.6%). Utilization rates were higher with the presence of multiple major birth defects (RR 3.06, 95% CI 2.75-3.42), chromosomal abnormalities (RR 4.25, 95% CI 3.82-4.73), and malformation syndromes (RR 6.83, 95% CI 5.85-7.93). Among 54 specific birth defects, the utilization rate varied from 1.5% for pyloric stenosis to 55.3% for holoprosencephaly and was significantly higher for 31 (57.4%) of the defects. Greater utilization rates were found with live births that had expired within 1 year after delivery (RR 2.86, 95% CI 2.42-3.36), fetal deaths (RR 1.59, 95% CI 1.23-2.03), elective terminations (RR 5.76, 95% CI 5.06-6.55), and maternal age > or =35 years (RR 1.59, 95% CI 1.41-1.78). Genetic counseling facility utilization rates were much higher with the presence of multiple major birth defects, chromosomal abnormalities, and malformation syndromes, certain specific birth defects, death of the fetus or infant, and older maternal age.

Parents’ perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance

“…14,16 Although this appears to indicate a largely "common sense" view of cardiac genetics service utilization among parents, 39% of parents of a child with multiple physical anomalies or a syndrome had not attended a genetics service. These data flag a need to understand, in both practical and psychological terms, the potential "gaps" between parents' beliefs about their child's medical condition, their awareness of available services, and actual health behaviors.…”

“…[14][15][16] The aims of this study were twofold: (i) to describe the beliefs and perceptions of parents of a child with CHD in regards to the role of genetic factors in CHD, as well as access to and utilization of cardiac genetics services and (ii) to identify the demographic, clinical, and psychological factors associated with attendance at genetics services for CHD. Based on the studies of parents' utilization of clinical genetics services for congenital abnormalities in general, it was hypothesized that attendance at cardiac genetics services would be low 13,14 and would be associated with the presence of multiple anomalies or a syndrome in the child, [14][15][16] increased maternal age, 13 maternity care at a tertiary-level hospital, 13 a family history of CHD, and greater perceived importance of the role of genetic factors in CHD. We also sought to examine the relationship between risk-related information-seeking style and genetics service attendance, hypothesizing that genetics service attendance would be associated with a general tendency in some parents to seek out or monitor for risk-related information.…”

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

“…The overall proportion of families using genetic counseling was 20%, which was at the high end of the range found in previous studies in Europe, United States, and Australia. [5][6][7][8][9] An upward trend in utilization in Victoria was evident, particularly compared with the 1991 and 1993 cohorts. The proportion of the high-need group using genetic counseling has steadily increased over time, with almost half of the 2004 high-need group using genetic counseling; however, there are still half of those who might benefit from genetic counseling not attending the service.…”

“…This finding is consistent with results from earlier studies in Victoria 6,10 and other countries. 5,[7][8][9] Over time it is the increase in utilization by the high-need group, rather than the low-need or moderate-need groups, that is responsible for the overall increase in genetic counseling in Victoria. This finding is reassuring in terms of appropriate service provision.…”

“…6 Although some parents may choose not to have genetic counseling simply because it is not of interest or relevance to them, or because their treating clinician has performed this function, the data suggest that various perinatal or demographic factors may influence this under-utilization. The type of birth defect, 5,7-9 infant survival status, 4,5,[7][8][9] previous affected sibs, 5,7 previous live births, 5 maternal age, 6,9 maternal race/ethnicity, 9 region of residence relative to genetic clinic, 4,8 and type of birth hospital, 6 have been found to influence utilization.…”