Ensuring Patients' Informed Access to Noninvasive Prenatal Testing

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PROJECT ABSTRACT Noninvasive prenatal genetic testing (NIPT) is revolutionizing the practice of obstetrics. However, the technol- ogy is expanding rapidly and in a way that has outpaced the rate at which evidence-based strategies for its in- tegration can be developed and implemented. Initially, NIPT was used as a screen for a limited number of an- euploidies and genetic conditions. Now, it is possible to confer information about numerous other fetal genetic conditions with variable phenotypic severity never before a part of prenatal screening as well as providing in- formation about markers that have undetermined significance. In addition, information gained from NIPT may have unexpected consequences by identifying maternal or paternal factors that may be unwanted or unex- pected. Thus, the decision-making process for NIPT is uniquely complex. An urgent clinical problem has emerged: there is a lack of evidence-based tools to guide OB providers in effective and patient-centered edu- cation and decision support for NIPT. The magnitude of this problem becomes evident when considering that over four million women receive prenatal care in the U.S. annually and there are not enough prenatal genet- ic counselors or maternal-fetal medicine specialists to meet this demand, particularly in rural and urban set- tings that already face poorer obstetric outcomes due to barriers in access prenatal care. The primary goal of this study is to ensure that all patients have informed access to NIPT by means of an effective communica- tion tool reflecting the perspectives of patients, partners, and OB providers designed to support patients’ informed decision-making about its use. Our central hypothesis is that, by focusing on the dynamic interac- tion between the patient and provider, the use of an evidence-based communication tool will result in a shared decision-making process that, in turn, will increase patients’ ability to make an informed choice about NIPT and decrease patients’ decisional conflict. We will examine this hypothesis using an evidence- based communication tool and a series of validated quantitative measures combined with in-depth interviews with key stakeholders in the NIPT translation process. This project is innovative because it will provide a new framework for the informed decision-making process that focuses on the patient and provider as dyads in the informed decision-making process. This work is significant because, once this point-of-care intervention is available, it will help expectant parents have informed access to advances in prenatal genetic tests that use next generation sequencing technologies. These results are expected to have an important positive impact on public health, as informed access to advances in genetic technologies is not only foundational to the ethical practice of medicine but also a key component of quality, access, and outcomes of personalized medicine. We anticipate that this study’s findings will ultimately contribute to empowering pregnant women and their partners to make informed choices that reflect their needs and preferences as individuals and parents.