Recent expansions in prenatal genetic testing have renewed concerns from both disability advocates and right- to-life movements that these tests serve primarily to enable elective terminations, However, as prenatal genetic testing becomes easier, safer, and more accessible, many women say they choose it for a very different reason: preparation. This reasoning reflects long-held assumptions that prenatal genetic results?properly delivered and followed with information, clinical surveillance, and/or social supports?prepare families for a child with a genetic condition, and even improve health and social outcomes for children and families. Yet this assumption remains unexamined, since there are no clear definitions or recommendations for prenatal preparation. This study focuses on the many parents who are deciding to continue a pregnancy after a genetic result, and who have reported challenges in finding the information and support they need as they plan for raising a child with a genetic condition. For these families, the very benefit they hoped prenatal genetic information would provide, preparation, is thwarted by a lack of resources appropriate to their needs. If prenatal testing is to be ethically and socially justified as a means of preparation, it must be part of a set of prenatal care practices that understand and meet the needs of those who are considering continuing a pregnancy after a genetic result. The objective of this project is to examine the ways stakeholders understand the meaning of prenatal preparation after a genetic result, determine what resulting health-seeking and related social behaviors these stakeholders undertake or enable, and build a conceptual model of preparation to guide future research, practice and policy development, through the following four Aims: (1) Characterize the varying meanings and activities entailed by preparation following a prenatal genetic finding; (2) Examine varying approaches to prenatal and postnatal support for families who receive a prenatal genetic finding, in order to identify (mis)matches between family, clinician, and advocacy group priorities; (3) Describe health-seeking and related social behaviors among families who receive prenatal vs. postnatal genetic results, in three diverse geographical regions; and (4) Build a conceptual model of prenatal preparation following a genetic result, in order to guide future research and inform practice and policy recommendations. To meet these Aims, we will interview clinicians who deliver and support prenatal genetic results and representatives of patient advocacy groups; longitudinally interview families who receive prenatal genetic findings and postnatal diagnoses; and deliberate on our findings with an expert panel of researchers, clinicians, bioethicists, advocates, and parents. By building a multidimensional conceptual model of prenatal preparation and assessing its potential ethical, clinical, research, and practical implications, this project will lead to more coordinated efforts to inform and support families experiencing a fetal genetic condition.
Preparation is often cited as a reason for offering and for accepting prenatal genetic screening and diagnosis. However, this term has no clear definition, and thus it is impossible either to prove benefit or to recommend best practices. By assessing the perspectives of stakeholders in prenatal genetic testing and building a conceptual model of preparation, this project will inform clinical practice and policy recommendations for prenatal testing, pre- and post-test counseling, parental decision-making, and support for families who continue a pregnancy with a genetic condition.
