Genetic counseling and neonatal screening for cystic fibrosis: An assessment of the communication process
Genetic counseling and neonatal screening for cystic fibrosis: An assessment of the communication process
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DOI：
10.1542/peds.107.4.699
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发表时间：
2001-04-01
期刊：
影响因子：
8
通讯作者：
Farrell, PM
中科院分区：
文献类型：
--
作者：
Ciske, DJ;Haavisto, A;Farrell, PM
目标。目的：评估威斯康星州医护人员(医生、护士、遗传咨询师)与常规威斯康星州新生儿筛查项目中被确认为囊性纤维化(CF)杂合子携带者的父母之间沟通的有效性。1994年7月实施的常规CF新生儿筛查涉及一个全州范围的系统，该系统建议但不强制在威斯康星州2个认证的CF中心中的1个进行后续汗液测试。威斯康星州卫生局在1994年7月至1997年12月期间向483名被确认为CF携带者的婴儿的父母发出了参与的请求。在483名父母中，183人同意参与，并被要求完成一份问卷，评估他们的新生儿CF筛查经验和他们对CF遗传学的知识，以及他们因此而对生殖行为做出的任何改变。完成问卷的人在1年内尝试由遗传咨询师进行电话采访。在邮寄后的4个月内，183名家长中有138名(75%)完成了问卷调查。随后，在138名受访者中，有123人(89%)通过电话联系和访问。我们了解到，67.6%的父母回忆起接受过遗传咨询，但32.4%的父母显然没有参加风险沟通会议。当被问到“谁进行了遗传咨询？”家长表示与医生沟通的比例为8%，与护士沟通的比例为12.4%，与注册遗传咨询师的沟通比例为32.8%，17.5%的家长不记得是谁进行了遗传咨询，29.2%的家长表示没有接受过遗传咨询。根据138份回复，88.3%的父母知道他们的孩子是CF的携带者，但15.4%的父母不确定作为携带者是否会导致疾病。此外，12.4%的父母不确定他们中是否至少有一人是CF基因的携带者。只有57%的父母知道，如果他们的孩子与另一名CF基因携带者生育，他们生下的孩子有四分之一的可能性患有CF。当比较接受过遗传咨询的父母和没有接受过遗传咨询的父母的正确反应频率时，统计上的显著差异被注意到。准确回答的频率并不取决于哪个卫生保健专业人员提供遗传咨询。将在经过认证的CF中心看到的父母的反应与在其他社区医院和诊所看到的父母的反应进行比较，发现正确反应的频率有显著差异，前者显示出更高的正确反应百分比。电话采访显示，11.4%的父母不知道他们的孩子是CF的携带者，54.5%的父母希望在最初的新生儿筛查结果呈阳性时，即确定的汗液测试之前，能向他们提供更多信息。此外，13.8%的家长建议社区医生更好地了解CFF阳性筛查结果的细节和意义。遗传咨询对于成功筛查新生儿CF和其他先天性疾病是必不可少的。随着人类基因组计划的完成，更多针对儿童疾病的分子筛查势必进入临床舞台。根据我们的研究结果，必须努力确保新生儿筛查项目有手段和方法将新生儿筛查结果有效地传达给家庭。此外，普通公众和社区卫生服务提供者都必须更好地了解所有新生儿筛查结果的影响。还需要进一步的研究，以确定是否有更适合就新生儿筛查结果向父母提供咨询的沟通方式和方法。
Objective. To assess the effectiveness of communication between health care providers (physicians, nurses, genetic counselors) in Wisconsin and parents of children identified as heterozygote carriers for cystic fibrosis (CF) in the routine Wisconsin Newborn Screening Program that was implemented using trypsinogen/DNA testing.Methods. Routine CF neonatal screening, implemented in July 1994, involved a statewide system that recommended but did not mandate follow-up sweat tests at 1 of the Wisconsin's 2 certified CF centers. The Wisconsin Division of Health sent requests to participate to the parents of 483 infants identified as CF carriers between July 1994 and December 1997. Of the 483 parents, 183 agreed to participate and were asked to complete a questionnaire assessing their CF newborn screening experiences and their knowledge of CF genetics and any changes they made in their reproductive behavior as a result of this knowledge. Follow-up telephone interviews by a genetic counselor were attempted within 1 year for those completing the questionnaire.Results. Within 4 months after the mailing, 138 of 183 (75%) parents completed the questionnaire. Subsequently, 123 of the 138 responders (89%) were contacted and interviewed by telephone. We learned that 67.6% of parents recalled receiving genetic counseling, but 32.4% of parents apparently did not participate in a risk communication session. When asked, "Who performed the genetic counseling?" parents indicated that their communication was with physicians in 8% of cases, nurses in 12.4%, and certified genetic counselors in 32.8% of cases; 17.5% of parents did not recall who performed the genetic counseling and 29.2% of parents indicated they did not receive genetic counseling. Based on the 138 responses, it was found that 88.3% of parents understood that their child was a carrier for CF, but 15.4% of parents were unsure whether being a carrier could cause illness. In addition, 12.4% of parents were unsure whether at least 1 of them (parents) was a carrier of the CF gene. Only 57% of parents knew there was a 1 in 4 chance that their child could have a child with CF if he or she reproduced with another carrier of the CF gene. Statistically significant differences were noted when comparing the frequency of correct responses between parents who received genetic counseling and parents who had not. The frequency of accurate responses did not depend on which health care professional provided the genetic counseling. Comparing responses of parents who were seen at a certified CF center with parents seen at other community hospitals and clinics revealed significant differences in the frequency of correct responses, with the former group showing a higher percentage of correct responses. Telephone interviews revealed that 11.4% of parents were unaware that their child was a carrier for CF and that 54.5% wished they had more information made available to them at the time of the initial positive newborn screen result, before the definitive sweat test. Also, 13.8% of parents recommended that community physicians be better informed of the details and implications of positive screening results for CF.Conclusion. Genetic counseling is imperative for the success of newborn screening for CF and other congenital diseases. With the completion of the Human Genome Project, more molecular screening for childhood disease is bound to enter the clinical arena. Based on our findings, efforts must be made to ensure that newborn screening programs have the means and the methods to communicate newborn screening results effectively to families. In addition, both the general public and community health providers must be better informed of the implications of all newborn screening results. Additional research is needed to determine whether there are communication styles and approaches that are better suited to counseling parents regarding newborn screening results.