In order to maximize the potential benefit of research using newborn screening residual dried blood samples (DBS), a paradigm shift will be necessary to develop an infrastructure in which parental consent is obtained and the results of genomics research using these samples will be returned to the parents of individual research participants. The goal of this project is to facilitate the development of the normative and legal framework necessary to return results to individual participants in this context.

The Clinical Sequencing Exploratory Research (CSER) and Return of Results Consortium (RoRC) programs are designed to investigate critical questions about the application of genomic sequencing to clinical care of individual patients, from generation of genomic sequence data, to interpretation and translation of the data for the physician, to communication to the patient, including an examination of the ethical and psychosocial implications of bringing broad genomic data into the clinic.

Despite the vast diversity of its populations, genetic studies in Africa have been limited. African populations, Malians in particular, have a high rate of intra-ethnic and consanguineous marriage, resulting in increased prevalence of autosomal recessive diseases. Family-based genetic studies can be limited in developed countries due to small sib ships. The average fertility rate in Mali is over 6 births per woman, offering a unique opportunity to find new disease genes or mutations that can then be studied in other populations.

Huntington's disease (HD) has for decades served as a model for how we think about genetic testing, and its benefits and risks for tested individuals and their families. In 1983, the gene for HD was mapped to chromosome 4, allowing linkage tests to be developed for use in presymptomatic genetic testing for HD. In 1986, Johns Hopkins launched one of the first two such testing programs in the United States.

Assignment of individuals to categories of race, ethnicity and ancestry impacts health and public policy, yet the practice remains both scientifically and culturally controversial. The established means of determining race and ethnicity, as commonly used for census and health questionnaires, is self-identification. However data is accumulating from social science research showing that an individual's reported ancestry is dependent on social and cultural context. At the same time, modern genetic studies have identified robust markers of ancestry.

Genomic medicine has, on one hand, the power to predict potentially debilitating disease before its actual onset; on the other hand, it creates challenges for patients in determining how to assess uncertainty and the risk of developing genomic-related adult-onset medical conditions. If adults are married when genetic testing occurs, they may discuss the test results with their spouses and decide on future actions together, such as disclosing the genetic test results to others; their spouses may also be affected by these discussions and decisions.

This project employs multiple methods and a transdisciplinary approach to explore policy options for US federal and state governments seeking to address how life, long-term care, and disability insurers use genetic information. The analysis will focus on legal standards of actuarial justification, that is, the requirement that insurers m+R409ust show a statistical correlation between a risk factor and increased cost in order to use that factor in an underwriting decision such as a policy denial or an increased premium.

Targeted gene sequencing using large panels has become an increasingly important strategy for evaluating disease risk for many inherited diseases. Expanded gene panels are more sensitive than single gene testing and often more cost effective than sequential testing, leading to additional diagnostic and prevention opportunities. However, these panels also identify rare variants of uncertain clinical significance (VUS) in many patients.

Genomic literacy plays a critical role in informed decision-making for genomic testing, in the implementation of the test and the accurate interpretation of the results, and in our policy making process as a society. The National Human Genome Research Institute's 2011 vision for the future of genomic medicine specifically cites the need for both providers and consumers to achieve genomic literacy. Yet despite its importance, there is no effective tool for assessing genomic literacy.

Responsible conduct of research (RCR) is an essential requirement for research training in developed countries and most academic and funding institutions require researchers to obtain such training before starting a research project Jordan is one of the more academically established countries in the Middle East and North Africa (MENA) region with a high per-capita university education and progressive research agenda. It is also the hub for pharmaceutical drug development with over 20 companies generating generic drugs and exporting it to the region and globally.