Developing public policy for genetic diagnostic services

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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.