Preparing for Emerging Applications of Noninvasive Prenatal Testing
Institution: Cleveland Clinic Lerner College of Medicine of Case Western Reserve University
FOA Number: PA-13-303
Noninvasive prenatal genetic testing, which utilizes cell-free fetal DNA and advances in sequencing technology, is revolutionizing the practice of obstetrics. While currently used as a screen for a limited number of aneuploidies and genetic conditions, noninvasive testing is anticipated to employ whole fetal exome and genome sequencing to identify not only monogenic disorders but also microduplications, microdeletions, and variants of uncertain clinical significance. This will give rise to a vast and complex body of information that expectant parents and healthcare providers must be prepared to interpret. Given the impact of fetal genetic information on reproductive choices, it is critical that effectiv informed consent practices are in place to ensure pregnant women and their partners make informed and value-reflective decisions about incorporating genomic technologies into their prenatal care. However, there is a critical lack of knowledge about how to structure an informed consent process that effectively meets the needs and preferences of expectant parents and is responsive to the challenges posed by noninvasive prenatal genomic testing and the clinical practice of medicine. The primary goal of this study is to ensure patient-centered counseling and effective informed consent practices are in place for noninvasive fetal genomic testing. Our central hypothesis is that the current absence of data concerning the informed consent process for such tests will not only have serious clinical and ethical implications for the delivery of prenatal care but also interfere with 1) patients' informed access to emerging applications noninvasive testing and 2) the translational process of other new prenatal technologies from the bench to the bedside. This project has two aims: 1) to describe the components of an effective informed consent process for noninvasive fetal genomic testing from the perspectives of pregnant women and partners and 2) to determine obstetric and genetic healthcare providers' perspectives regarding approaches and barriers to an effective informed consent process for noninvasive fetal genomic testing. We will conduct this work in collaboration with a multidisciplinary team of leading experts in the field of obstetrics, genetics, ethics, law, and medical decision-making and use a combination of qualitative and quantitative methods. This project is innovative because it will provide a new framework for the informed consent process and bring in the perspectives of partners in decisions about the use of noninvasive fetal testing. This work is significant because it is the first step in a line of research expected to develop and implement clinically relevant strategies to support expectant parents' informed consent about the use of next generation sequencing technologies. These results are expected to have an important positive impact on public health, as informed consent is not only foundational to the ethical practice of medicine but also a key component of healthcare quality, access, and outcomes. 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.
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Apr 1, 2015
Dec 31, 2016