Prenatal screening and testing technologies using genetic methods are rapidly expanding, offering increasing amounts of genetic information about the fetus. However, research shows that women from underserved populations are less likely to receive or accept prenatal genetic services, leading to discordant birth outcomes. We propose to explore the barriers to access and acceptance of prenatal genetic care among women from underserved populations.

PROJECT NARRATIVE Though any single rare disease is by definition uncommon, together these diseases affect nearly 30 million individuals in the United States, two-thirds of whom are children, and contribute significantly to morbidity, mortality, and healthcare costs. Exome and whole genome sequencing have the potential to provide a diagnosis to an estimated 25 to 50 percent of those patients struggling with undiagnosed rare diseases, but the downstream costs and benefits of this testing beyond diagnosis remain largely unknown.

Prenatal screening and testing technologies using genetic methods are rapidly expanding, offering increasing amounts of genetic information about the fetus. However, research shows that women from underserved populations are less likely to receive or accept prenatal genetic services, leading to discordant birth outcomes. We propose to explore the barriers to access and acceptance of prenatal genetic care among women from underserved populations.

This proposal seeks to build on 4 years of funded work on the ethical, legal, and social implications (ELSI) of genetic research in American Indian and Alaska Native (AI/AN) communities. In the course of that work, questions of trust have emerged with unique salience as American Indian and Alaska Native community members have expressed concerns with abusive treatment by researchers whom they characterize as primarily interested in self advancement and who, it is argued, have returned little of value to these communities that suffer so disproportionately from health disparities.

As evidenced by the endless reports of new discoveries in genetics and genomics over the past few decades, the public's views will substantially influence the uptake and use of these new applications for personal and societal benefit. Informed decision-making regarding the use of genomic applications will depend on public understanding of both basic scientific concepts and social implications to enable consideration of personally significant risks and benefits. Furthermore, informed publics are critical for the large population studies often required in genome sciences.