Developing public policy for genetic diagnostic services

该项目包括概念分析和实证研究。在过去的一年里，我们重点关注了三个问题：1）直接面向消费者的遗传服务营销和销售，2）新生儿筛查，3）携带者筛查 在过去几年中，直接向消费者推销遗传服务的做法不断增加，但在界定其范围或考虑其局限性方面的研究却很少。我们对直销的概念分析指出了可能与其用于遗传服务相关的三个限制：1）复杂的信息2）复杂的社会背景，以及3）缺乏对临床效用的共识。对直接向消费者提供遗传服务的因特网网站进行的一项实证研究确定了105个网站。虽然大多数网站提供与身份和亲子关系有关的测试，但有14个网站提供与健康有关的服务。其中一些与健康有关的服务是标准测试，如囊性纤维化，但其他人则是更非常规的测试，如成瘾的敏感性。我们目前正在完成对德系犹太人疾病携带者筛查小组的实验室做法的调查。 新生儿筛查是最广泛使用的遗传服务之一，可能包括更多偏离基于PKU筛查的原始范例的疾病。我们已经完成了一份关于囊性纤维化新生儿筛查的概念性文件，该文件表明，当利益和风险平衡时，在做出增加测试的政策决定之前，需要更加关注风险最小化。目前，我们正在完成一项关于国家筛查实践的调查，并完成一份关于新生儿筛查研究中伦理问题的概念性论文。 2001年，美国妇产科学院（ACOG）制定了指南，建议提供囊性纤维化（CF）携带者筛查。我们进行了一项邮件调查，以描述目前的常规做法，产科医生对CF载体筛选。我们调查了六个州的1，191名产科医生，有715名受访者（60%）。我们的初步研究结果是，大多数（77%）报告经常/总是提供CF载体筛查他们的怀孕的白人患者，而55%的报告经常/总是提供这样的筛查他们的怀孕的非白人患者。四分之三的受访者估计，不到50%的患者同意接受筛查。我们正在进一步分析这些数据。

This project involves both conceptual analyses and empirical studies. In the last year we have focused on three issues: 1) direct to consumer marketing and sales of genetic services, 2) newborn screening, and 3) carrier screening Direct to consumer marketing of genetic services has been increasing within the past few years and there has been little research in defining its scope or considering its limitations. Our conceptual analysis of direct marketing points to three limitations that may be relevant to its use for genetic services: 1) complex information 2) complicated social context, and 3) lack of consensus about clinical utility. An empirical study of Internet sites that offered genetic services directly to consumers identified 105 sites. While most sites offered tests related to identity and paternity, there were 14 sites that offered health related services. Some of these health related services were for standard tests such as cystic fibrosis but others were for more unconventional tests such as for susceptibility to addiction. We are currently completing a survey of laboratory practices towards carrier screening panels for Ashkenazi Jewish diseases. Newborn screening is one of the most widely used genetic service with the potential for many more diseases to be included that deviate from the original paradigm based on PKU screening. We have completed a conceptual paper on cystic fibrosis newborn screening that suggests that when the benefits and risks are balanced that greater attention needs to be given to minimizing risks before making policy decision to add a test. Currently, we are completing a survey of state screening practices and completing a conceptual paper on ethical issues in newborn screening research. In 2001, the American College of Obstetrics and Gynecology (ACOG) developed guidelines recommending that cystic fibrosis (CF) carrier screening be offered. We have conducted a mail survey to describe the current routine practices of obstetricians regarding CF carrier screening. We surveyed 1,191 obstetricians in six states and had 715 respondents (60%). Our preliminary findings are that a majority (77%) reported often/always offering CF carrier screening to their pregnant Caucasian patients, while 55% reported often/always offering such screening to their pregnant non-Caucasian patients. Three quarters of respondents estimated that less than 50% of their patients agreed to screening. We are in the process of further analyzing these data.