In 2009, 192,370 new cases of female breast cancer (BC) were diagnosed in the U.S. Of these cases, 5%- 10% were attributed to BRCA mutations. This translates to approximately 9,000 to 18,000 high-risk women who may be impacted by hereditary BC. In a given year, the number of high-risk BC patients is similar to or greater than the total number of cases of other cancers in women (e.g., oral cancer, n=10,480; stomach cancer, n=8,310; cervical cancer n=11,720; myeloma n=8,900).
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.
Chromosomal Microarray Analysis (CMA) is a genome-wide technology that allows for identification of genomic alterations, such as deletions and duplications, at an unprecedented resolution. However, many genetic variations are identified that have unknown or uncertain clinical significance. New clinical guidelines recommend CMA testing for children with Autism Spectrum Disorder (ASD). ASD is one of the most common serious developmental disorders, found in almost 1% of children in the United States.
Recent advances in genomic medicine and genetic testing have increased availability of and access to genetic assessments in both specialty and routine clinical care. Isolation of genetic markers for disease risk among healthy individuals is changing the way in which diseases are detected and defined. Media reports of genetic findings and availability of direct-to-consumer tests may increase both public curiosity and concern.
The ability to utilize biospecimens collected at the time of birth for research that integrates genetic variation, social and environmental exposures, and health outcomes may be an invaluable resource in promoting epigenetic approaches to disease prevention and health promotion. There are a growing number of perinatal biobanks in the US and globally, including many focused on preventing prematurity, specific childhood conditions, or birth defects.
Innovations in next-generation DNA sequencing technologies, accompanied by exponential drops in cost, have made it possible for clinicians to begin to use whole genome sequencing (WGS) to diagnose, treat, and predict disease. The extent to which WGS will improve health outcomes on a population level, however, will depend on effective oversight of its commercialization and use.
New technologies are enabling the arrival of the much awaited affordable genome the ability to sequence an individuals or a tumors entire genome quickly and inexpensively [whole genome sequencing (WGS)]. WGS is now being offered in clinical care and is expected to become more widely used in the near future, particularly in cancer. However, this technological advance threatens to outpace our ability to use it effectively in clinical practice and to address the associated health policy issues.
The purpose of this study is to provide empirical data on effects of intellectual property (IP) and commercialization on clinical translation of noninvasive prenatal genetic testing (NIPT) and identify potential barriers to clinical adoption and patient access. Advances in technologies for genetic analysis of cell-free fetal DNA could make NIPT routine. Early clinical trials indicate that sequencing-based NIPT tests for chromosomal aneuploidies are more accurate than currently used noninvasive screening tests.
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.
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.