The biobank uses genetic data and medical record data for both research and clinical testing. Our laboratory currently stores over 100,000 blood and DNA samples from participants. These samples and the genetic data we generate from them are used to research health and disease and may someday lead to discoveries that will change current standards of care. As a CLIA-certified, CAP-accredited clinical laboratory, the biobank is qualified to return medically-actionable genetic test results to participants and their healthcare providers, providing insight and the potential for intervention in genetic disease risk.
We host a highly-skilled team capable of working with campus investigators on numerous analyses of their interest, whether it is to identify cohorts, study specific the genetic basis of various traits or diseases, or explore patterns of risk for individuals in the data. We recognize that not all groups include statistical geneticists, and the team is available for collaboration to ensure genetic and electronic health record analyses are performed using state-of-the-art statistical tools. Over the past few years we have collaborated with numerous groups across the United States as well as internationally on a number of projects, while maintaining appropriate levels of study security.
Our ultimate goal is to improve the health and wellness of patients through personalization of care. Our Clinical Operations team works closely with UCHealth, our affiliated health system, to deliver cutting edge medical knowledge directly to patients and their providers using a number of technical and human resource strategies. Currently, we return two types of clinical genetic test results to biobank participants who have signed an appropriate consent: (1) pharmacogenetic (PGx) results, which are used to inform medication selection and dosing and (2) high-impact pathogenic variant results, which are rare genetic variants that increase the risk of certain diseases, like cancer and heart conditions, for which early intervention and treatment can improve health outcomes.
PGx results are returned preemptively (I.e., before they may be needed) to a participant’s electronic health record (EHR). Our team has built drug-gene specific clinical decision support tools in the EHR which provide clinicians with pertinent PGx results and clinical guidance at the point-of-prescribing.
High impact pathogenic variant results are returned by a certified genetic counselor. Discussion with Biobank participants about their genetic variant includes information about the health risks related to this result, review of health care recommendations and discussion of risks and testing options for family members. Participants have options for notifying their primary care provider and being referred to specialty clinics for follow-up care. The genetic test result is entered in the EHR and shared with the Biobank participant and their relevant care providers.
Our aim is to establish a multidisciplinary clinic that utilizes personalized medicine as its mode of treatment in collaboration with other schools and colleges of the University.
Informatics Operations (I/O) aims to deliver reliable software and data to support CCPM clinical and research efforts. We oversee the development and implementation of informatics pipelines that process raw genotyping data and ensure that those pipelines accurately and reproducibly process genetic data for delivery into patients’ records for clinical care.