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Parental attitudes regarding newborn screening of PKU and DMD
Elizabeth Campbell1, Lainie Friedman Ross
1Department of Sociology, University of Chicago, Illinois 60637, USA.
Insights
Parents support newborn screening for treatable genetic conditions but desire access to predictive genetic testing for untreatable childhood diseases for informed family planning. Guidelines may need re-evaluation.
Area of Science:
- Medical Ethics
- Pediatric Genetics
- Public Health Policy
Background:
- Current guidelines recommend newborn screening for treatable conditions but discourage predictive genetic testing for untreatable childhood diseases.
- Parental attitudes towards predictive genetic testing in children are not well understood.
- Ethical considerations surround predictive genetic testing in pediatric populations.
Purpose of the Study:
- To explore parental attitudes, beliefs, and concerns regarding newborn screening and predictive genetic testing for childhood-onset conditions.
- To understand parental perspectives on testing for both treatable and untreatable conditions.
- To inform potential revisions of professional guidelines based on parental views.
Main Methods:
- Focus groups were conducted with parents from diverse racial backgrounds.
- Discussions covered attitudes towards mandatory newborn screening and voluntary predictive genetic testing for childhood conditions.
- Qualitative data on parental decision-making, information needs, and psychosocial concerns were gathered.
Main Results:
- Parents strongly support mandatory newborn screening for treatable conditions like phenylketonuria (PKU).
- Respondents desire access to predictive genetic testing for untreatable childhood conditions to aid reproductive and family planning.
- Parents believe the decision for predictive genetic testing should rest with them.
Conclusions:
- Parental support for mandatory screening of treatable conditions is high, driven by concerns about parental knowledge and decision-making capacity.
- Parents advocate for access to predictive genetic testing for untreatable conditions, citing psychosocial reasons and planning needs.
- Existing professional guidelines restricting predictive testing for untreatable childhood diseases warrant re-examination in light of parental preferences.
Abstract:
The ability to perform predictive genetic testing of children raises ethical concerns. Current guidelines support the screening of newborns for conditions in which early treatment reduces morbidity and mortality, and oppose most other predictive genetic screening and testing in childhood. Little is known, however, about parental attitudes. We conducted focus groups to gain information on the attitudes, beliefs, and concerns of parents about newborn screening and testing for both treatable and untreatable conditions that present in childhood. Respondents across racial groups support mandatory newborn screening for treatable conditions like phenylketonuria (PKU), citing lack of parental knowledge, and concerns about immature parental decision-makers. Parents do, however, want more information. Citing a variety of psychosocial concerns, respondents believe that parents should have access to predictive genetic testing for childhood onset conditions, even when there are no proven treatments. Respondents want this information to make reproductive and non-reproductive plans and decisions. Although respondents varied in their personal interest in testing, overwhelmingly they believed that the decisions belong to the parents. Professional guidelines that proscribe predictive testing for untreatable childhood onset conditions should be re-examined in light of consumer attitudes.