Health-relevant information no longer comes just from electronic medical records but also from the digital footprints left behind when people use mobile applications, search the internet, wear activity monitoring devices, access direct-to-consumer health care testing, or simply converse in social media. Many efforts including those tied to the Precision Medicine Initiative (PMI) are fueling the development of large population-based databases that link clinical and genetic information.
Prenatal genetic services have expanded at an extraordinary pace over the past 4 years with the development of fetal genome sequencing using cell-free placental DNA in maternal serum. Some commentators predict that this new technology, which allows for noninvasive determination of an increasingly wide range of maternal-fetal health conditions, will improve prenatal care, especially in lower-resource areas.
As concerns for border security increase, policymakers are turning to genomics as a biometric for tracing individuals entering the country, identifying missing migrants' remains, processing refugee claims, and screening for human trafficking. Increasingly, genomic information is a part of legislation and policy as a universal and sustainable biometric. Genetic verification of claimed relationships is required for some refugees and proposed legislation would expand this practice.
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.
This project will analyze how US white nationalists are appropriating, adapting, politically mobilizing and changing themselves in response to contemporary genomics research. White nationalists have gained public prominence since 2015 trying to bring greater visibility to their movement and policy ideas. Ideas from genetics have been prominent in their public pronouncements and in online discussions among white nationalists.
Patient engagement is critical for implementation of the genomic component of precision medicine--with care taken to include the perspectives and needs of patients. Yet many patients may experience significant barriers to understanding genetic information and/or using the electronic patient portals that many health systems are using to meet the terms of meaningful use related to the return of laboratory and test results.
Genetic testing has a multigenerational impact, as actionable pathogenic variants can identify multiple family members at risk. Currently in the United States, a person at actionable risk through genetic testing is responsible for contacting their own family members and communicating risk. However, incomplete or non-disclosure to relatives is prevalent, and up to a third of at-risk relatives who may have actionable genetic findings go un-notified.
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.
ELSI.hub (a National Center for ELSI Resources and Analysis) is a collaboration between Stanford University, Columbia University and partners at the Hastings Center and Harvard University, whose mission is to enhance the production and use of ELSI research by the ELSI community and other stakeholders.
The purpose of this study is to assess assenting and consenting adolescents choices about learning genomic research results. We will refine existing decision tools and processes to promote informed genomic decision-making through the use of focus groups with adolescents and parents recruited from an existing genomic research study and a diverse, medically-underserved community to assess whether and how recruitment pathways impact perceived value, risks, and benefits of participation in genomic research and return of personal genomic information.