Newborn screening: Outcomes of mixed blessing

Newborn screening: outcomes of mixed blessing

RESEARCH QUESTIONS

  1. What are the experiences of parents with a false positive outcome of the screening; levels of anxiety and health perception to their child?
  2. What are the views of parents and physicians with regard to disclosing carrier status results for metabolic diseases, including the child and parents?
  3. What are the views and experiences of parents and child physicians when confronted with another disease than screened for?
  4. How should the benefits of certainty and acquisition of knowledge created by screening be weighed against the uncertainties and worries that are caused? What are the roles of values of welfare, autonomy, and knowledge in this balance?
  5. What are the implications of the answers to previous questions for: newborn screening criteria, informed consent procedures, and follow-up procedures?

Duration: September 2009 - December 2011

SUMMARY
The screening of newborns in The Netherlands is targeted at identifying the presence of severe, but treatable disorders in infants.  In 2007, the Dutch newborn screening program was expanded to include an additional 13 metabolic disorders. New technologies make testing for these rare disorders possible, and probably more disorders will be included in the newborn screening in the near future (technology driven). Unfortunately, in some cases test results are false positive or disclose other disorders than screened for. Ethical considerations on these subjects were hardly addressed. This project investigated several screening outcomes that exceed the limits of the screening program

This study showed that the expansion of the Dutch neonatal screening program has resulted in diverse “mixed blessings” outcomes and ethical considerations for both professionals and parents. The implementation and correct execution of existing guidelines, aiming at adequate informing parents about the newborn screening program, informed consent procedures, and outcomes of follow-up testing after positive newborn screening results are warranted. Guidelines for follow-up testing, treatment and disclosure of carrier status in non-classical forms are needed.

The researchers proposed the following recommendations:

  1. Improvement of implementation and execution of the existing newborn screening protocols for primary care professionals.
  2. Improvement of information for parents of lower education and of non-Western origin.
  3. Improvement of the overall knowledge of general practitioners about the newborn screening program.
  4. Standard follow-up visit and psychological evaluation in parents after falsepositive results are confirmed.
  5. Improvement of knowledge and implementation of the existing clinical guidelines for newborn screening by metabolic professionals.
  6. Guidelines for follow-up procedures and disclosure of carrier status of nonclassical forms.