Noninvasive, prenatal whole genome sequencing may be a technological reality in the near future, making available a vast array of genetic information early in pregnancy at no risk to the fetus or mother. Many worry that the timing, safety, and ease of the test will lead to informational overload and reproductive consumerism. The prevailing response among commentators has been to restrict conditions eligible for testing based on medical severity, which imposes disputed value judgments and devalues those living with eligible conditions. (...) To avoid these difficulties, we propose an unrestricted testing policy, under which prospective parents could obtain information on any variant of known significance after a careful informed consent process that uses an interactive decision aid to deliver a mandatory presentation on the purposes, techniques, and limitations of genomic testing, as well as optional resources for reflection and consultation. This process would encourage thoughtful, informed deliberation by prospective parents before deciding whether or how to use NIPW. (shrink)

The scope of noninvasive prenatal testing (NIPT) could expand in the future to include detailed analysis of the fetal genome. This will allow for the testing for virtually any trait with a genetic contribution, including “non-medical” traits. Here we discuss the potential use of NIPT for these traits. We outline a scenario which highlights possible inconsistencies with ethical decision-making. We then discuss the case against permitting these uses. The objections include practical problems; increasing inequities; increasing the burden of choice; negative (...) impacts on the child, family, and society; and issues with implementation. We then outline the case for permitting the use of NIPT for these traits. These include arguments for reproductive liberty and autonomy; questioning the labeling of traits as “non-medical”; and the principle of procreative beneficence. This summary of the case for and against can serve as a basis for the development of a consistent and coherent ethical framework. (shrink)

Introduction: Non-invasive prenatal testing allows for genetic testing of a fetus through the analysis of cell-free DNA from the mother’s plasma. NIPT is easy and safe for the fetus, since it only requires a blood draw from the mother and therefore holds no risk of miscarriage. It is considered superior to other prenatal screening tests and can also be performed earlier in the pregnancy. NIPT has the future potential for fetal whole genome sequencing for an expanded range of conditions, such (...) as late onset genetic conditions and carrier status. Objective: To review ethical, legal, social, and policy implications of the potential use of non-invasive prenatal testing for FWGS. Methods: This study is a critical interpretive literature review exploring and reporting ethical, legal, social, and policy implications of potential future implementation of NIPT for FWGS, which will be referred to as non-invasive prenatal whole genome sequencing. Database and reference list searching was conducted between 2010 and 2019 for terms related to “non-invasive prenatal testing” AND “fetal whole genome sequencing” and derivatives. Results: Following screening, 32 articles were included. Data were grouped into four thematic categories: 1) ethical implications for the future child concerning autonomy and harms, as well as for prospective parents involving autonomy, informed consent concerns, and harms; 2) legal implications including privacy concerns; 3) social implications including changes in family dynamics, altered societal perceptions and disability concerns, justice and equity in accessing the test, and social pressure to use the test; and 4) policy implications including cost and funding concerns, limiting the scope of testing, as well as counseling, education, and support. Discussion: The discussion of results highlights several ethical, legal, social, and policy implications of NIPT use for FWGS. These findings have implications on NIPT implementation for FWGS including how the autonomy of the future child should be balanced with the autonomy of prospective parents, the scope of conditions that should or should not be tested for – and covered or not covered by the healthcare system – and the regulation of FWGS introduction, among others. Further research needs to be performed to address these concerns and hence guide the discussion about the clinical implementation of FWGS through NIPT. (shrink)