Genomics and Individualized Medicine
Piloting the patient-clinician interface in whole-exome sequencing: Experience of medically educated scientists
Whole-exome sequencing (WES) provides information about genetic variants that may or may not have relevant health implications. Laboratories analyzing these sequences are faced with the task of filtering and interpreting these variants, followed by the challenge of determining how to best report these results to clinicians.
To date, only a few hundred individuals have been sequenced, and their experience offers little guidance for establishing ethical management of reporting and explaining those results. Drs. McCormick and Lindor plan to examine the education, consent and results-disclosure process for WES from the patient perspective with the aim of improving the procedures currently employed.
To do this, Drs. McCormick and Lindor will offer WES to a limited number of medically knowledgeable Mayo Clinic faculty members as a beta test for WES at Mayo Clinic. Through a series of surveys conducted before, during and after the process, Drs. McCormick and Lindor will evaluate the adequacy of the existing WES process from a patient perspective and describe areas of improvement for the future.
Development of a warfarin pharmocogenetics education tool for clinical application
Warfarin is the most commonly prescribed anticoagulant in North America. Unfortunately, health care professionals find it difficult to provide patient education on warfarin pharmacogenomics in their clinical practice. Patients must be educated on additional factors that may contribute to fluctuation and dosing variability with their warfarin therapy, especially with new data emerging on the impact of genetic factors on warfarin metabolism.
This study aims to create a tool for patient education and facilitation of health care decision making regarding the role of genetics in warfarin therapy. Specifically, the tool will use a combination of a pictogram and patient leaflet to introduce how variations of genes can affect warfarin metabolism.
Disclosing genomic incidental findings in a cancer biobank: An ethical, legal and social implications (ELSI) experiment
This empirical and normative bioethics research project will guide policy and practice about the disclosure of genomic incidental findings, a much-debated topic. This project addresses a critical problem in translational genomics research ethics.
After assessing preferences of pancreatic cancer probands and their family members and conducting an in-depth ethical, legal and social implications analysis with an expert law and bioethics working group, the investigators will prototype and evaluate a procedure for offering findings to family members of probands who carry germline mutations and develop best practice guidelines.
This project will generate much-needed data on proband and family preferences, produce detailed analyses of the legal and ethical issues raised, create consensus recommendations, devise methods for honoring preferences, and advance sound biobank governance.
Potential participant input on an informed consent process involving the insertion of genomic data into the EMR
Pharmacogenomics investigates the influence of genetics on drug response in patients. It offers the potential to individually tailor drug therapy, thereby contributing to safer, more efficient disease management. Despite its potential to improve patient care, incorporating identifiable and highly personal genomic data into the medical setting requires serious ethical consideration. Seeking the views of community members through focus groups is one way of navigating the complex issues surrounding the use of genomic data in clinical practice.
In this study, Drs. McCormick and Maschke met with members of a biobank community advisory board (CAB) in order to understand their hopes and concerns regarding the inclusion of pharmacogenomic research data in the electronic medical record (EMR).
Translating addiction genomics research into practice: Examining ethics and policy
The purpose of the study is to examine the ethical, social and policy implications of an emerging genetic understanding of addiction on medical and public health practices. The empirical aims of the study are to:
The ultimate goals of the project are to provide policymakers with a clear understanding of the potential impact and limitations of genomic research on addiction, inform the development and refinement of addiction phenotypes within the scientific and translational research communities, ensure that research findings will integrate harmoniously into current public health measures to reduce the adverse health outcomes of addiction, and contribute to a responsible and sensitive use of genetic research findings on addictive behaviors in future formulations of public health policy.
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