Attitudes and beliefs of pediatricians and genetic counselors regarding testing and screening for CF and G6PD: Implications for policy

Boston University, Boston, Massachusetts, United States
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 11/2006; 140(21):2305-11. DOI: 10.1002/ajmg.a.31463
Source: PubMed


There is wide variability in conditions included in state newborn screening (NBS) panels. The American College of Medical Genetics (ACMG) was commissioned by Health Resources and Services Administration to develop a uniform NBS panel. Based on survey data, the ACMG committee proposed a panel that included cystic fibrosis (CF) and glucose-6-phosphate dehydrogenase deficiency (G6PD), although G6PD was excluded from their final recommendations. We examine the attitudes of pediatricians and genetic counselors concerning screening for these two conditions. Data were collected as part of two different studies. Koopmans and Ross surveyed a random sample of 600 pediatricians from four states based on their NBS panels. Hiraki et al. surveyed genetic counselors who were members of the National Society of Genetic Counselors (NSGC) listserv. For this analysis, we compare the health care professionals' (HCPs') attitudes toward a universal NBS program for CF and G6PD, and how their support is influenced by state policy and personal interest in testing their own children. Two hundred twenty-three pediatricians and 267 genetic counselors provided partial or complete responses. Pediatricians are more likely to support NBS for both CF (84%) and G6PD (58%) than genetic counselors (56%, P < 0.001 and 39%, P < 0.001, respectively). Both pediatricians and genetic counselors' attitudes toward screening correlate with interest in screening their own children (P < 0.001). Interest in CF screening also correlates with state policy (pediatricians, P < 0.001; genetic counselors, P < 0.025). The correlation of professional recommendations with state policies and personal preferences reinforces the need for systematic evidence-based reviews rather than reliance on stakeholder opinions for developing national guidelines.

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