Ethical questions concerning newborn genetic screening

Abstract

Newborn screening is a public health strategy used to identify certain diseases in the first days of life and, therefore, facilitate early treatment before the onset of symptoms. The decision of which diseases should be included in a screening goes beyond the medical perspective, including reasons for public health and health economics. There are a number of characteristics to include a disease in the screening, such as that the disorder must be a significant health problem, the natural history of the disease must be well known, a feasible and accurate test must be available, there must be a treatment that is most effective when applied before the onset of clinical symptoms and a health system must be in place that is capable of performing the procedure and subsequent monitoring. Currently, newborn screening programs are currently based on the use of biochemical markers that detect metabolites, hormones or proteins, but recently, the availability of new technology has allowed the possibility of a genetic screening. In addition to technical problems, the possibility of neonatal screening also presents a number of ethical problems. We identified and discussed six areas of particular concern: type of illness, overdiagnosis or overtreatment, information management and informed consent, data confidentiality and protection, justice and legal regulation.

Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters

“…Patients with CFSPID may benefit from detection by NBS [29], although uncertainty remains challenging for families and caregivers and strategies for the follow-up of these patients are not commonly established yet [27]. Several European countries do not use DNA testing for CF screening [30], and neonatal genetic screening is often not adequately addressed in European laws [31]. In conditions with permissive laws and readily available financing, genetic analysis including F508del CFTR mutation analysis and next generation sequencing is definitely a reasonable choice to reduce second cards and screening (false-)positive, as exemplified by the Danish 3-Tier system [32], or the German and Dutch algorithms that also include analysis of PAP [19,33].…”

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

“…If one accepts this informed consent approach, then the radical expansion of newborn screening to cover many more conditions, including an increased number of IEI, as well as any increased probability of receiving information about carrier status, may seem problematic. This is because of the much more complex information that becomes relevant to making an informed choice either to accept the testing offered or to opt out [ 37 , 38 ].…”

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

“…A growing literature evaluating the ethical dimensions of GS as a newborn screen is developing [ 72 , 74 , 75 ]. There are broad questions, including how to choose the conditions that should be screened, what constitutes adequate and informed consent, the potential of discrimination arising from misuse of genomic data if it is stored, individual versus societal risk and benefits, and equitable access by underrepresented groups.…”