Pediatricians' attitudes toward expanding newborn screening
Pediatricians' attitudes toward expanding newborn screening
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DOI：
10.1542/peds.2005-0453
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发表时间：
2005-10-01
期刊：
影响因子：
8
通讯作者：
Ross, LF
中科院分区：
文献类型：
--
作者：
Acharya, K;Ackerman, PD;Ross, LF
Objective.传统的人群筛查侧重于早期治疗可预防严重发病率和死亡率的疾病。儿科的经典例子是新生儿苯丙酮尿症筛查，始于20世纪60年代。1968年，Wilson和Jungner提出了10个标准来证明人群筛查的合理性。这些标准已被许多新生儿筛查工作组重申为新生儿筛查计划添加条件的标准。然而，今天，一些新生儿筛查计划正在扩大，以包括可能不符合所有传统筛查标准的条件。儿科医生对扩大筛查的态度知之甚少。我们调查了儿科医生和儿科专科医生对囊性纤维化（CF）、杜氏肌营养不良（DMD）、脆性X染色体和1型糖尿病筛查的态度。对600名儿科医生进行了一项横断面调查，其中包括美国儿科学会遗传学、内分泌学、肺病学和神经学部门的成员。对于每种情况，儿科医生都被询问了（1）检测高危婴儿，（2）新生儿筛查，（3）新生儿期后的人群筛查或检测。还收集了人口统计学数据。共有232（43%）的537名合格的儿科医生返回调查。超过75%的人支持对高危婴儿进行除1型糖尿病以外的所有疾病的检测。CF是唯一> 50%支持新生儿筛查的条件。除脆性X染色体外，新生儿筛查优于筛查年龄较大的婴儿。亚专业隶属关系没有显着的影响，就检测高危儿童，新生儿筛查，或筛查婴儿期后的态度。我们分析了在医生的护理下，查询条件的患者人数和受影响的家庭成员的人数的数据。这两个方面都不重要。我们还按性别、住院医师毕业年份和地理位置分析了数据。这些因素都没有显示出显着差异的反应。对于每种情况，8%至41%的医生会亲自选择测试自己的婴儿。我们发现，医生的意见，他们希望自己的孩子与他们的态度人口新生儿筛查。那些亲自选择对自己的婴儿进行检测的人极有可能支持新生儿筛查CF（98%），DMD（94%）和脆性X（98%），但只有78%的人亲自选择新生儿筛查1型糖尿病也会支持基于人群的筛查。这对于每种情况都具有统计学意义。那些选择不对自己的婴儿进行检测的人支持普通人群新生儿筛查的可能性明显较低。三分之一的人不想测试自己的新生儿CF支持人群筛查，而只有五分之一的人支持DMD和脆性X人群筛查。对于1型糖尿病，98%不愿意亲自选择新生儿检测的人不希望将其作为人群筛查项目。大多数医生支持对高危儿童进行诊断性基因检测，但不太支持扩大新生儿筛查，特别是对于不符合Wilson和Jungner标准的情况。扩大新生儿筛查的意愿与专业特征无关，而是与个人对检测自己孩子的兴趣有关。
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 high-risk 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. One third of those who did not want to test their own newborns for CF supported population screening, whereas only one fifth supported DMD and fragile X population screening. For type 1 diabetes, 98% of those who would not personally choose newborn testing did not want it offered as a population screening program.Conclusions. Most physicians support diagnostic genetic testing of high-risk children but are less supportive of expanding newborn screening, particularly for conditions that do not meet the Wilson and Jungner criteria. Willingness to expand newborn screening does not correlate with professional characteristics but rather with personal interest in testing of their own children.