PROJECT NARRATIVE Little is known about how health care providers (HCPs) will react to, and use, genomic information in patient care. The goal of this study is to understand how genomic information impacts HCPs and to make recommendations that will enhance HCPs' ability to successful integrate this information into clinical medicine.
This is a competing renewal to continue our investigations of the use of molecular cytogenetic testing by array copy number analysis in prenatal diagnostic testing. We have completed a prospective blinded comparison of copy number analysis (aCNA) with standard conventional karyotyping in 4400 unselected prenatal diagnostic tests. Our work demonstrates that aCNA identifies all pathologic findings seen by karyotyping and provides significant incremental information in 2% of all patients tested.
Despite significant efforts, African Americans continue to experience excess rates of morbidity and mortality from all forms of cancer relative to individuals from other ethnic and racial groups. Research is now being conducted to the molecular basis of cancer through genetic-based studies and to translate this information into strategies for cancer detection, prevention, and treatment. African American reluctance to participate in cancer genetics research will significantly limit efforts to apply these approaches to address racial disparities in cancer outcomes.
Two major forces in clinical medicine on the horizon are expected to change the paradigm of clinical care. One is personalized genomic medicine (PGM), which seeks to harness knowledge about the genetic endowment of the individual to individually tailor specific medical therapies. The second driving force in healthcare today is to conduct comparative effectiveness research (CER) to directly compare the effectiveness, and sometimes the cost, of alternative therapies or diagnostic modalities for the same disease or condition.
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.
Harvesting the benefits of genomics requires a new kind of transdisciplinary cooperation. Over the next three years, we will create the Center for Transdisciplinary ELSI Research in Translational Genomics (CT2G) to address key ELSI questions in translational research. The proposed Center brings together the unique resources of Kaiser Permanente Northern California (KPNC), including its Division of Research, and the University of California, San Francisco (UCSF), including the Hastings College of the Law Consortium on Law, Science & Health Policy.
Background: There is great interest in the implementation of genomic medicine, i.e., using genomic information to inform patient care. As a result, patients with medically actionable (preventable and/or treatable) genetic conditions are being identified, often as an unsolicited secondary finding or a result of screening in the absence of a clinically known condition. The identification of a previously unsuspected medically actionable condition enhances the ability of health care providers' (HCPs) to intervene early to prevent disease.
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.