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.
Noninvasive prenatal genetic testing, which utilizes cell-free fetal DNA and advances in sequencing technology, is revolutionizing the practice of obstetrics. While currently used as a screen for a limited number of aneuploidies and genetic conditions, noninvasive testing is anticipated to employ whole fetal exome and genome sequencing to identify not only monogenic disorders but also microduplications, microdeletions, and variants of uncertain clinical significance.
Genomics-based technologies are increasingly used in clinical care and are highly relevant to public health because of their potential use in assessing risk, diagnosing, and developing treatment plans. Access to genomic tests often depends on cost and coverage of services by the health plan. No studies, to our knowledge, identify whether access and reimbursement issues relating to guideline-recommended pharmacogenomic tests exist, and what the potential implications of barriers to access and/or differential access for patients, providers, and society are.
This project employs a multi-method, transdisciplinary approach that combines ethnographic participant- observation, interview research methods, ethical, legal, and public policy analyses. The two goals of the present project are 1) to identify the ethical, legal, and policy challenges that the field of psychiatric genomics will face when trying to translate the findings of large-scale GWAS into clinically useful information, and 2) to make evidence-based recommendations about how to address these challenges.
Prenatal testing is evolving in two important ways: first, advances in genomic medicine mean that samples of fetal DNA obtained with invasive methods (such as amniocentesis) can be analyzed using microarray analysis or whole genome sequencing, revealing far more information about the fetus's genetic make-up than was previously possible; and second, new, non-invasive prenatal tests have been introduced that isolate fragments of fetal DNA circulating in a pregnant woman's blood, making possible safe, highly accurate genetic testing much earlier in pregnancy than was previously possi
Obtaining adequate informed consent from potential research participants is a significant challenge for biobank-dependent research. To maintain public trust and support, it is important to establish an informed decision-making process for the collection and use of biospecimens collected within clinical settings. For the majority of all infants born in the US, residual dried blood biospecimens are generated after newborn screening is completed. Some programs have chosen to store these specimens for several uses including biomedical research.
Advances in psychiatric genetics are likely to offer major diagnostic and therapeutic benefits, but also legal and social-related risks, to individuals who were diagnosed with, or have a proclivity for, psychiatric disorders. In response, courts and policy-makers will have to ensure that psychiatric genetic data are used to promote, and not to obstruct, equality, justice, and social inclusion.
Many national and international public and private initiatives are forming to collect and share data on a large scale for research and clinical use. Collectively, these efforts may lead to the creation of a medical information commons, a networked environment in which diverse sources of health, medical, and genomic data on large populations become widely shared resources.
Genomic literacy plays a critical role in informed decision-making for genomic testing, in the implementation of the test and the accurate interpretation of the results, and in our policy making process as a society. The National Human Genome Research Institute's 2011 vision for the future of genomic medicine specifically cites the need for both providers and consumers to achieve genomic literacy. Yet despite its importance, there is no effective tool for assessing genomic literacy.