Genomics, Genetics, Comparative Effectiveness, Rare Diseases, Health Services
Clinical Genetic Counseling,Whole genome sequencing clinical research, Qualitative research involving patients and providers, Billing and Reimbursement for genetic counselors, Ethical Issues
I am very interested in how to educate and consent individuals for genomic sequencing applications. In addition, I am interested in how best to reach providers with the information that need to incorporate genomic information into their routine care for patients. This requires new approaches to communicate with patients and providers as well as new methods to access huge amounts of data, theoretically throughout an individual’s lifetime. There are informatics challenges which involve the physical storage of the data, but also the question of the preferences on the part of providers and patients (and their family members) as to long term access and application of the information gathered. I am an investigator in the whole genome sequencing research currently conducted through the Genomic Medicine Institute. Enlisting the partnership of patients and providers in designing reports of genome sequencing results is the focus of a project funded through the Patient Centered Outcome Research Institute (PCORI) as a Communication and Dissemination award. The work has led to development of a web-enabled enhanced report available to patients and providers through access to the electronic health record.