Pediatricians' Attitudes Toward Expanding Newborn Screening

Abstract

ABSTRACT.Objective. Traditional population screening focuses on conditions for which early treatment prevents severe morbidity and mortality. The classic example in pediatrics is newborn screening for phenylketonuria, which began in the 1960s. In 1968, Wilson and Jungner delineated 10 criteria that would justify population screening. These criteria have been reaffirmed by many newborn screening task forces as the standard for adding conditions to newborn screening programs. Today, however, some newborn screening programs are expanding to include conditions that may not meet all of the traditional screening criteria. Little is known about pediatricians' attitudes toward expanding screening. We examine the attitudes of pediatricians and pediatric subspecialists toward screening for cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), fragile X, and type 1 diabetes.Methods. A cross-sectional survey was conducted of 600 pediatricians, including those who are members of the section of genetics, endocrinology, pulmonology, and neurology of the American Academy of Pediatrics. For each condition, pediatricians were queried about (1) testing high-risk infants, (2) newborn screening, and (3) population screening or testing beyond the newborn period. Demographic data were also collected.Results. A total of 232 (43%) of 537 eligible pediatricians returned surveys. More than 75% support testing high-risk infants for all conditions except type 1 diabetes. CF was the only condition for which >50% supported newborn screening. Newborn screening was preferred over screening older infants for all conditions except fragile X. Subspecialty affiliation did not have a significant impact with respect to attitudes about testing highrisk children, newborn screening, or screening beyond infancy. We analyzed the data by the number of patients with the queried condition under the physician's care and by the number of affected family members. Neither aspect was significant. We also analyzed the data by gender, by year of residency graduation, and by geographic location. None of these factors revealed significant differences in responses. For each condition, 8% to 41% of physicians would personally choose to test their own infant. We found that physicians' opinion about what they would want for their own children correlated with their attitude about population newborn screening. Those who would personally choose testing of their own infants were highly likely to support newborn screening for CF (98%), DMD (94%), and fragile X (98%), but only 78% of those who would personally opt for newborn screening of type 1 diabetes would also endorse population-based screening. This was statistically significant for each condition. Those who would choose not to test their own infants were significantly less likely to support newborn screening of the general population. T raditional population screening focuses on conditions for which early treatment prevents severe morbidity and mortality. The classic example in pediatrics is newborn screening for phe...

Triagem neonatal: o que os pediatras deveriam saber

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“…13,14,22,23 The Newborn Screening Expert Group found a clear disparity between the information available and the information needed by the primary care physician (pediatricians and family doctors) to ensure an immediate response to positive screening tests and so recommended that professional training should be the responsibility of the screening system. They also developed a list of actions (ACT sheets) to be taken in the event of a positive diagnosis for each of the diseases proposed for testing.…”

“…2,[12][13][14][15] In this article we will review the literature and provide an update on the aspects of neonatal screening that are most important to pediatricians, with the intention to form a critical opinion and to increase their participation in the Ministry of Health's National Neonatal Screening Program (NNSP) and intervention in the private screening tests that exist in Brazil.…”

Caregiver opinions about fragile X population screening

“…A 2005 survey of pediatricians found that only about one-third would support newborn or infant population screening for FXS. 18 However, in a 2009 survey, 78% of pediatricians believed that newborn screening for FXS would be beneficial for children and families, and 58% believed that parents should be offered FXS screening for their infant as part of wellchild care. 19 A 2006 survey of genetic counselors reported that 20% supported newborn screening, 36% supported population screening later in infancy, and 73% supported testing of high-risk infants.…”

Newborn screening: what pediatricians should know

“…Também no Brasil, trata-se da maior iniciativa do Sistema Único de Saúde (SUS) na área de genética. Embora o pediatra e o médico de família tenham um papel proeminente para o seu sucesso, a participação de ambas as especialidades nos programas existentes em todo o mundo ainda é pequena 2,[12][13][14][15] . Neste trabalho, fizemos uma revisão e atualização da literatura sobre os aspectos mais importantes da triagem neonatal para o pediatra, com o objetivo de formar uma opinião crítica sobre a mesma, ampliar a sua participação no Programa Nacional de Triagem Neonatal (PNTN), do Ministério da Saúde, e intervenção nos testes de triagem privados existentes no país.…”