Expanded newborn screening: social and ethical issues

Abstract

Newborn screening and genetic testing have expanded rapidly in the last decade with the advent of multiplex (e.g., tandem mass spectrometry) and/or DNA technologies. However, screening panels include a large number of disorders, which may not meet all of the traditional screening criteria, established in late 1960s, and used for years to justify screening programs. After a period of expansion driven by technological advances, many reports have reconsidered the justification of expanded programs. Many factors have contributed to test-panel discrepancies between countries. The test-panel review methodology, the way health benefits are weighed against harms, and the socioeconomic-political environment all play a role. Expansion of screening also requires reconsideration of the infrastructure (ideally, in the context of national plans for rare diseases) to support testing, counselling, education, treatment, and follow-up. Consequently, economic aspects cannot be ignored and can be a limitation for expansion. New ethical questions have emerged: risks of discrimination or stigmatization, respect of the autonomy of persons to make decisions, parental anxiety resulting from a false positive test (especially when reporting to parents screening results for untreatable conditions identified as by-products of screening), etc. For disorders where there is not yet confirmation of benefit, it may be prudent to recommend pilot screening and to have a mechanism that can be used to adapt or even to stop a program.

Newborn genetic screening for hearing impairment: a population-based longitudinal study

“…Ethical issues that might emerge with the implementation of newborn genetic screening for deafness include risks of discrimination or stigmatization, respect for a person's autonomy to make his or her own decisions, and undue parental anxiety for the health of their children. 24 Socioeconomic consequences 118 118 118 35 28 28 28 28 28 28 193 153 152 149 146 146 146 No. at risk V371/V371 V371/235delC All that might ensue include the necessity to modify or expand the infrastructure and human resources of the health-care system to support testing, counseling, education, treatment, and follow-up.…”

Concurrent Confirmation and Differential Diagnosis of Congenital Adrenal Hyperplasia from Dried Blood Spots: Application of a Second-Tier LC-MS/MS Assay in a Cross-Border Cooperation for Newborn Screening

“…The disorder could be excluded in all other suspected cases. The avoidance of repeated blood sampling in the large number of false-positive cases can eliminate unnecessary family anxiety and the accompanying increase in the frequency of hospitalization [20,24]. …”

“…We also aimed to apply this method for newborn screening in the frame of the Hungarian-Romanian Cross-Border Cooperation Project (HU-RO) 0802/008 SCREENGEN. The cross-border cooperation was expected to improve the effectiveness of newborn CAH screening and eliminate possible issues concerning the implementation of the LC-MS/MS technique (high initial costs and the need for trained analysts) [18,19,20]. …”

Informed Consent Process in Alpha-1 Testing of At-Risk Children: Views of Parents and Adults Tested as Children

“…We do not know the reasons for the objections to newborn screening, and this is an area for further research (49). If this evidence that newborn screening would be acceptable to and desired by the affected populations is borne out by future studies it could serve to promote genetic screening for this and other late onset genetic diseases.…”