Developing public policy for genetic diagnostic services

这个项目既涉及概念分析，也涉及实证研究。在过去的一年里，我们集中在三个问题上：1)直接面向消费者营销和销售基因服务，2)新生儿筛查，3)携带者筛查 基因服务面向消费者的营销在过去几年里一直在增加，关于界定其范围或考虑其局限性的研究很少。我们对直销的概念性分析指出了可能与其用于基因服务相关的三个限制：1)复杂的信息，2)复杂的社会背景，3)缺乏关于临床效用的共识。对直接向消费者提供基因服务的互联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，但也有14个网站提供与健康相关的服务。这些与健康相关的服务中，有些是用于囊性纤维化等标准测试，但另一些是用于更非常规的测试，如成瘾易感性。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。 新生儿筛查是应用最广泛的遗传服务之一，有可能纳入更多偏离以PKU筛查为基础的原始范例的疾病。我们已经完成了一篇关于囊性纤维化新生儿筛查的概念性论文，该论文建议，当利益和风险得到平衡时，在做出增加检测的政策决定之前，需要更多地关注将风险降至最低。目前，我们正在完成一项关于国家筛查做法的调查，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，美国妇产科学会(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，以描述目前产科医生关于CF携带者筛查的常规做法。我们调查了六个州的1191名产科医生，有715名受访者(60%)。我们的初步发现是，大多数(77%)报告经常/总是向其怀孕的高加索患者提供CF携带者筛查，而55%的报告经常/总是向其怀孕的非高加索患者提供此类筛查。四分之三的受访者估计，只有不到50%的患者同意筛查。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.