PHG Foundation | Should babies be screened for untreatable disorders?

Should babies be screened for untreatable disorders?
Analysis of a study published in a science journal | By Dr Sowmiya Moorthie | Published 9 June 2011

Study: Parents' Decisions to Screen Newborns for FMR1 Gene Expansions in a Pilot Research Project
By: Skinner D. et al. (8 authors total)
In: Pediatrics
Link: http://dx.doi.org/10.1542/peds.2010-3078

What this study set out to do:
Offer newborn screening for Fragile X Syndrome (FXS) to investigate public willingness to accept screening for conditions that are currently untreatable and would identify newborns as carriers and/or at risk for late-onset conditions. This study provides empirical data on rates of parental consent and their reasons for accepting or declining screening.

How they went about it:
A total of 2137 mothers and their partners were offered screening, including detailed information about the test, follow-up tests and the risks and benefits of screening. A survey form was used to collect basic demographic data and an open-ended question was used to obtain their reasons for accepting or declining screening.

Outcome:
Screening was taken up by 63% of couples, and the decision to accept screening appeared to be influenced by ethnicity and level of education. The primary reason given for accepting was “to know”; other reasons included aiding research and the fact that the testing was non-invasive. A number of reasons were given for declining including not wanting to know and negative feelings about genetic tests, No one reason for declining was predominant.

Conclusion:
Parents made decisions following considerations of many of the risks and benefits of participation. However, analysis of some of the reasons given by parents indicated that the personal, familial and social consequences of Fragile X syndrome may not have been fully understood by all. Further research will examine their reasoning in more detail, as well as assess how parents and children are affected by knowledge obtained from screening. In general there was parental support for newborn screening for FXS as long as informed consent was obtained, but more research is needed on the informed consent process and how best to instigate it.

Our view:
Newborn screening for Fragile X syndrome is a controversial issue (see previous news) and raises several ethical, legal and social issues (see previous news). Both this article and an accompanying commentary highlight the complex and subtle nature of the risks and benefits associated with screening for certain rare genetic conditions in the newborn period, and difficulties in evaluating them using current screening criteria. In addition, ensuring that parents understand and are able to make an informed choice about screening for such conditions also presents difficulties. As technologies that enable expansion of newborn screening panels develop, concomitant development of appropriate methods of evaluating and delivering screening services is becoming increasingly important
PHG Foundation | Should babies be screened for untreatable disorders?