Supporting pregnant patients as they face a changing landscape of prenatal genetic tests and post-diagnosis options

ABSTRACT Prenatal genetic screening tests and diagnostic tests (PS&D) contribute to optimal fetal/neonatal outcomes through the delivery of high-quality prenatal care. While PS&Ds are an important part of prenatal care delivery, advances in PS&D present a challenge to ensure pregnant patients have the information and resources to

make informed decisions about their use. This complexity is due, in part, to significant advances in prenatal genomics that continue to introduce new PS&D, increasing the number of conditions that can be detected be- fore birth. It is also due to parallel changes in maternal-fetal medicine, pediatrics, and reproductive policy that

rapidly change the options available if a fetal genetic condition is diagnosed. Consequently, patients face a growing challenge in making informed decisions about a moving target of testing and post-diagnosis options. As a result, a serious and urgent unmet clinical problem has emerged: There is a lack of evidence-based guid-

ance to support an individualized informed decision-making process for patients amidst an increasingly com- plex set of reproductive healthcare choices. The objective of our study is to generate strategies and resources that will facilitate informed decision-making about PS&Ds by diverse populations of pregnant patients. This pro-

ject is a first step to identifying what strategies may be needed to best prepare patients for this increasingly complex decision-making landscape. In Aim 1, we will determine how the rapid changes in PS&Ds and post- diagnosis options affect the nature and timing of resources and support patients need to make informed PS&D

decisions. We will interview patients to identify their PS&D decision-making needs and clinicians to seek their input on implementing strategies that address those needs. In Aim 2, we will measure patients' preferences for informational content and delivery when considering whether, when, and how to utilize PS&Ds during pregnan-

cy. We will use a Discrete Choice Experiment to investigate patients' priorities and tradeoffs as they face in- creasingly complex considerations regarding PS&D use. In Aim 3, we will identify strategies needed to support the implementation of strategies to support patients’ informed decision-making in response to a changing

PS&D and post-diagnosis landscape. We will engage with key community, provider, and policymaker stake- holders to identify interventions to effectively support patients with those decisions. This study is significant for patient care as it will be a critical step toward establishing patient-centered practices to support evidence-

based reproductive healthcare in an increasingly complex healthcare setting. By achieving the aims of this study, the study will have a high impact as it will fill the critical need of providing resources to patients as they consider a changing array of PS&D and post-diagnosis options that have significant implications for their

health, their pregnancy, and their family.