This 3-year R01 based at the University of Minnesota and Vanderbilt University will convene a national Working Group of top legal and scientific experts to analyze current U.S. federal and state law, regulation, and guidance on translational genomics, and to generate consensus recommendations on what the law should be, to optimize successful translation of genomics into clinical use. The law underlying genomics is currently unclear, poorly understood, and contested.

Whole genome sequencing has vast potential to improve the care of generally healthy adults by identifying predispositions for disease to facilitate targeted prevention and screening efforts, by informing treatment options when illnesses do develop, and more. It may also cause more harm than good through false-positive findings, through unnecessary monitoring because of incomplete genetic penetrance, and because the conditions identified by genomic sequencing may lack effective prevention options.

Ms. Christi Guerrini is research faculty in the Center for Medical Ethics and Health Policy at Baylor College of Medicine (BCM). BCM is a premier academic health science center known for excellence in education, research, and patient care. The BCM main campus is located in the Texas Medical Center, which is the largest medical center in the world. The Center for Medical Ethics and Health Policy at BCM was established in 1982 and has created an academic culture defined by and supportive of collaborative research and teaching.

Health research using mobile devices, such as smartphones and tablets, is becoming more common. New hardware and software can transform a mobile device into a sophisticated data collection and analytical platform. These technologies are fundamentally changing health research because the recruitment, data collection, and data sharing are conducted online without any face-to-face interaction between researchers and research participants.

This project will identify and address ethical and practical barriers to qualitative data sharing (QDS) in health sciences research. Qualitative research has unique value in understanding health behaviors and traits that are stigmatized and hidden such as risk factors for HIV or a genetic propensity to addiction. Accordingly, a lot of qualitative data are sensitive, and the data are provided within relationships of trust.

Advances in technology have led to the availability of genetic testing for a wide range of conditions for healthy or high-risk newborns. It is expected that the funds spent on genetic testing in the U.S. will reach $25 billion by 2021. With the numerous uses of genomic information, understanding the clinical value and long-term impact of genomic technologies on morbidity, mortality, quality of life, and diagnosis and treatment costs is essential.

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.

Background: There is great interest in the implementation of genomic medicine, i.e., using genomic information to inform patient care. As a result, patients with medically actionable (preventable and/or treatable) genetic conditions are being identified, often as an unsolicited secondary finding or a result of screening in the absence of a clinically known condition. The identification of a previously unsuspected medically actionable condition enhances the ability of health care providers' (HCPs) to intervene early to prevent disease.

The lack of American Indian and Alaska Native professionals in genomic sciences today highlights the tremendous need for effective training and research programs to prepare the next generation of Native students to be successful in their pursuit of careers in genetics research. Early and meaningful exposure to degree programs and research experiences are critical for the inclusion and advancement of Native students in establishing pathways toward careers in genomics.

While newborn screening (NBS) programs have saved the lives of thousands of children with inherited disorders, the future success of this vital public health program depends on the ability to accurately assess and balance the benefits and harms of screening. The ongoing development of new testing technologies increases the number of disorders screened, which generates more false positive NBS results. Despite decades of research, the scope and magnitude of harms from false positive NBS results remain poorly understood.