This application proposes the continuation of a Center for Research on the Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral (PNB) Genetics at Columbia University Medical Center (CUMC), in collaboration with The Hastings Center. We have been funded since April 2010, initially under a developing center award and since 2013 as a full Center of Excellence in ELSI Research (CEER).
H3Africa provides an unprecedented opportunity to study genetic and genomic technologies into research, diagnosis, intervention, and treatment for sickle cell disease (SCD) in Africa. As such, involving a few African Centers already involved in the forefront of Sickle Cell Disease Research in Africa with moderate expertise on psychosocial research (Cameroon), newborn screening (Ghana) or genomics studies (Tanzania) could serves as a reservoir for rigorous examination of a wide range of accompanying ethical, psychosocial, cultural, and policy issues.
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.
Rapid advances in human genetics have prompted concerns about the public's readiness to process and utilize the knowledge gained to make informed decisions about their health. To facilitate "genetic literacy," several government agencies including the Office of the Surgeon General and the Centers for Disease Control and Prevention (CDC) have advocated for the increased use of family health history assessment. The family health history, currently underutilized in primary care, offers an ideal proxy to assess genomic risk and is the simplest applied genomic tool available.
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.
Exome sequencing (ES) and whole genome sequencing (WGS) are transformative new tools for discovery of genetic risk factors for both rare and common diseases and offer the potential of personalized genetic risk profiling in a single, cost-effective test. Because of the large number of variant results simultaneously identified, the number of results with potential clinical utility-including those that are unanticipated, and the evolving utility of results over time-use of these technologies challenges existing models of returning results to research subjects and patients.
In recent years, researchers from around the world have begun developing repositories of tissues and socio-demographic data for genetics and other biomedical research. These biobanks, often linked with patient health care records, have been an invaluable resource in helping to understand cancer, diabetes, and various genetic-related disorders. The specimens and data are especially valuable when combined and analyzed with specimens and data from other countries, because rare variations can be detected and examined.
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.
Dr. Korngiebel's long-term goal is to become an independent researcher at the intersection of bioethics, informatics, and genetic testing. To work toward this goal, she will receive rigorous training that includes 11 courses supplemented by directed tutorials in order to complement her qualitative research skills with proficiency in genetics-related bioethics, informatics pertaining to Electronic Medical Record Health Information Technology, and quantitative data analysis. The research project will allow her to apply the knowledge gained through formal instruction.