Newborn screening outcomes of mixed blessing

Newborn screening is conducted on almost all newborns in The netherlands during
the first week of life. Until recently, blood was tested for three severe
congenital disorders which can be treated before clinical symptoms arise:
phenylketonuria (PKU), congenital hypothyroidism (CHT) and adrenogenital
syndrome (AGS). However, new technologies such as tandem mass spectroscopy
(MS/MS) and DNA micro-array have been developed to cover a wide range of
diseases that can be traced using the heel prick screening. Based on the
advisory report published by the Health Counsil the newborn screening has been
expanded with 14 disorders since the first of January 2007, leading to an
estimated increase of 80-90 detection per year, primarely caused by positive
test results for sickle-cell disease. The other disorders involve smaller
numbers of detected cases. The expanded programme has been set up according to
the recommendations and the screening criteria proposed by the Health Counsil
in the past. Important criteria are: that a good test method is available,
screening and treatment are available for every patient and the screening
should be in the interest of the child. In light of these criteria, the
expansion leads to a number of unexpected or unwanted test outcomes. Although
unexpected or unwanted the results may still be valued positively as far as
these lead to more certainty and knowledge of the medical condition of the
child. This may play a role in unexpacted or unwanted outcomes of newborn
screening and can lead to implications for newborn screening criteria, informed
consent criteria, and follow-up procedures.

In this part of the project we use two 'categories' of test outcomes: false
positives and positive test results for a metabolic disease that was not
tested. Objectives of the study are to evaluate these categories of test
outcomes by empirical research. The results of the empirical study will be used
for recommandations for screening.

This empirical and retrospective study will be carried out by means of a
questionnaire and semi-structured interview, evaluating the views and
experiences of parents with non-intended screening outcomes of mixed blessing.
The results of this study will be used for ethical analysis and evaluation:
implications for newborn screening criteria, informed consent procedures, and
follow-up procedures. Parents are asked to participate by their pediatrician.
Controls are selected by means of date of birth (RIVM).

Burden: questionnaires: 30 minutes; interviews: 2 hours.
Risks: none.
Benefit: express and share experiences, influance on informed consent and long
term follow-up procedures.