Newborn screening (NBS) is conducted on virtually every child born in the U.S. primarily through state-based public health programs. Following testing, there is blood leftover on each child that is retained by many state health departments. Residual samples have been used for a variety of purposes including quality assurance for the NBS programs, forensic testing, and for research. Our project will focus on the potential use of residual samples for biomedical research. Many states are experiencing requests from investigators in academia and industry for access to residual NBS samples.

The objective of this project is to address the content, timing, efficacy, and impact of prenatal education about newborn screening generally and bloodspot sample retention specifically. This project has the following specific aims: Specific Aim 1) To determine what pregnant women, young mothers, and their partners want to know regarding the retention and use of residual bloodspot samples ' Methods include 15 focus groups conducted in five states (NY, CA, UT, MN, WA).

The objective of this training and research project is to develop the candidate into an independent and interdisciplinary ELSI researcher, with the ability to intertwine qualitative empirical with normative approaches to issues in genetics and genomics.

The purpose of this study is to provide empirical data on effects of intellectual property (IP) and commercialization on clinical translation of noninvasive prenatal genetic testing (NIPT) and identify potential barriers to clinical adoption and patient access. Advances in technologies for genetic analysis of cell-free fetal DNA could make NIPT routine. Early clinical trials indicate that sequencing-based NIPT tests for chromosomal aneuploidies are more accurate than currently used noninvasive screening tests.

Prenatal testing is evolving in two important ways: first, advances in genomic medicine mean that samples of fetal DNA obtained with invasive methods (such as amniocentesis) can be analyzed using microarray analysis or whole genome sequencing, revealing far more information about the fetus's genetic make-up than was previously possible; and second, new, non-invasive prenatal tests have been introduced that isolate fragments of fetal DNA circulating in a pregnant woman's blood, making possible safe, highly accurate genetic testing much earlier in pregnancy than was previously possi

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.

Prenatal genetic services have expanded at an extraordinary pace over the past 4 years with the development of fetal genome sequencing using cell-free placental DNA in maternal serum. Some commentators predict that this new technology, which allows for noninvasive determination of an increasingly wide range of maternal-fetal health conditions, will improve prenatal care, especially in lower-resource areas.

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.

PROJECT NARRATIVE 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.