Living donor kidney transplantation (LDKT) is promoted to redress the shortage of kidneys for transplantation. However, studies show that living donors (LDs) have a greater risk of kidney failure than healthy non-LDs post-donation.4-6 Moreover, African American (AA) LDs have an even greater risk of kidney failure post-donation than European American (EA) LDs.4,5 These findings have generated heightened concerns in the transplant community over protecting LDs' safety and improving LDs' informed consent.7-14 Genetics may help explain this disparity.
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.
In the emerging era of precision medicine, there have been increasing calls for diversity and the inclusion of historically under-represented racial and ethnic populations in biobanking and precision medicine research. Recent findings suggest that the lack of diversity in genetic repositories may pose serious challenges to identify genetic variants that are clinically significant in certain populations. These concerns have been linked to ethical concerns over disparities in health and disease among racial and ethnic groups.
The potential benefits and harms of returning genomic results to children and their parents are matters of enduring controversy--especially genomic results for adult-onset conditions that are not medically actionable in childhood. Returning results for adult-onset conditions can spur life-saving preventive measures in the parents of affected children. However, there has been long-standing concern that children who receive a result for an adult-onset condition might experience negative psychosocial outcomes such as distress or altered family functioning.
While the value of identifying individuals in the population who carry `actionable' variants and screening their relatives (i.e. cascade screening) is widely acknowledged, there are numerous barriers in implementing this process and studying the optimal approaches for doing this. First, the feasibility of returning genetic results is complex as it depends on many issues, including the community expectations, consent form language, local IRB considerations, and logistical, feasibility, and cost issues, among others.
From the passage of the country's first sterilization law in Indiana in 1907 until the 1960s approximately 60,000 people were sterilized based on eugenic criteria that sought to regulate the reproduction of the "unfit" and mentally deficient. California performed about 20,000, or one-third, of all documented sterilizations nationwide. Few empirical historical analyses of this practice are available. In 2007, while conducting historical research at the Department of Mental Health (now Department of State Hospitals) in Sacramento, Dr.
As genomic sequence data are being produced faster and at lower cost, the most significant challenge in clinical genetic testing today is variant classification. Currently, there are marked differences in variant classification among clinical laboratories, with clinically significant discrepancies in 29% of variants interpreted. Variants that were previously categorized as pathogenic are now known to be benign with the increasing availability of more ethnically diverse reference data, and this is issue is more common for individuals of non-European ancestry.
Project Narrative The potential benefits and harms of returning genomic results to children and their parents are matters of enduring controversy?especially genomic results for adult-onset conditions that are not medically actionable in childhood. Empirical data to support either position in this controversy are, however, lacking.
Project Narrative. Advances in psychiatric, neurologic and behavioral (PNB) genetics have brought the prospect of predictive and diagnostic genomic testing for many PNB conditions closer to clinical application. The potential for such findings to profoundly affect core elements of personhood?including identity, perceived responsibilities, and life trajectories?makes it essential to understand the impact of such information on individuals and families.
PROJECT NARRATIVE We will undertake epidemiological, historical and mixed-methods analysis of nearly 30,000 eugenic sterilization requests processed by three U.S. states: California, North Carolina, and Iowa, between 1919 and 1974. Working with de-identified datasets and using methods we developed during the R21 phase of this project, we will estimate and compare population-based rates of sterilization according to gender, age, ethnicity, nationality, diagnosis, state, and time period.