PROJECT NARRATIVE The goal of the biennial ELSI Congress is to provide a dedicated, regularly scheduled meeting for researchers focused on the ethical, legal and social implications of genetic and genomic research and its translation into clinical care.

Project Narrative. This K99/R00 Pathway to Independence Award will prepare the candidate to become an independent, mixed-methods ELSI researcher pursing a research program on ethical issues related to the actionability of genomic information. The study examines the values and assumptions underlying conceptualizations of the actionability of genomic information for healthy populations. Results of the study will contribute to the ethical and effective implementation of genomic sequencing into care for healthy populations.

The annual meeting of the American College of Medical Genetics (ACMG) brings together a large proportion of basic and clinical investigators of rare genetic diseases. The organizers propose a series of workshops to be held in conjunction with ACMG meetings to consider issues related to identifying needs and opportunities for collaborative research involving rare genetic diseases (RGDs) associated with birth defects, mental retardation and developmental disabilities, and would set the stage for clinical and translational research.

Criminal DNA profiling could soon include phenotypic markers for attributes such as eye, skin, and hair color, gait, ancestry, and predisposition to behavioral traits such as smoking. This technology, referred to as forensic DNA phenotyping (FDP), transforms the existing function of criminal DNA profiling from confirming a suspect's identity to predicting it. The field of forensic genetics will have to confront the ethical and social challenges that FDP will raise.

Biobanks that collect and store participants' clinical and genetic information have become important tools in genomic research, disseminating data to a large number of investigators conducting genome-wide association studies and other genomic research. The ubiquity of these biobanks in research and the fact that many of their uses will be undetermined at the time a participant consents pose a host of ethical challenges related to privacy rights, participant consent, and data sharing.

The specific aim of this project is to determine what criteria should govern return of individual results of pediatric genomic research, using analysis of US law and international guidelines regarding decision making for and by minors as the foundation. This issue, which has received remarkably little attention, must be resolved if this research, which is vital to understanding the contributions of genetic variation to the health of children, is to proceed.