In an anonymous questionnaire survey of 718 first-time visitors to 12 genetics clinics, 476 (66%) responded. Most were white (89%) working-class (59%) women (91%) with a median of 13 years education and median household income of $25,000-45,000, from older cities in the Northeast and Midwest, bringing a child for evaluation (89%). Most (72%) said they wanted their newborn tested even if there was no treatment, to find out if their next child might have the same genetic disorder; 10% did not want testing and 18% didn't know. Those wanting testing said they had a right to know, or that the information would help them relate better to their child or help with reproductive decisions. Respondents were divided about whether states should require newborn sceening for untreatable disorders; 49% said no, 26% said yes, 24% didn't know. In a similar survey of 1538 genetics professionals (1084, 70% responding) and 852 primary care physicians (499, 59% responding). 74% of genetics professionals and 90% of primary care physicians agreed that "an important goal of newborn screening is to identify and counsel parental carriers before the next pregnancy," but only 11% of geneticists thought states should require screening for Duchenne muscular dystrophy, which does not benefit the newborn. Results suggest parental distrust of government intervention if there is no direct benefit to the child. Informed consent may be necessary as screening moves toward tandem mass spectrometry and identification of untreatable disorders.
Learning Objectives: Participants should learn about patient/consumer views on goals of newborn screening and views on state regulatory involvement. The session will provide information useful in discussions of adding new tests to multiplex screening or tandem mass spectrometry, and possible requirements for informed consent in newborn screening
Keywords: Genetics, Ethics
Presenting author's disclosure statement:
Organization/institution whose products or services will be discussed: None
I do not have any significant financial interest/arrangement or affiliation with any organization/institution whose products or services are being discussed in this session.