The Biorepository and Integrative Genomics Initiative (BIG)

Center of Excellence in Inflammation, Infectious Disease & Immunity

Biorepository and Integrative Genomics (BIG) Initiative. 

Progress in genomic medicine threatens to leave behind medically underserved communities.The UTHSC 100K Genomes Project is a statewide initiative to study how genomic variants affect health and disease. The project boasts over 32,000 subjects enrolled along with exome sequence and SNP data, linked to electronic medical record data, on over 13,000. We have studies that are currently underway in asthma, epilepsy, and cardiomyopathy.

The Reason for Research

The BIG Initiative aims to address some of the most critical health care needs in Tennessee by investigating the impact a person’s genes have on their overall health and response to treatment. The research study is an ongoing repository of blood specimens and  medical data in the ETSU Health electronic health records and has no end date. This study will only require a one-time blood draw. The collection of blood and medical data may contribute to studies leading to the improvement in health outcomes of others in the future. Participation in this research is voluntary. The choice to let the UTHSC BIG Initiative keep the data and samples for future research is up to our patients.

ETSU's CIIDI and UT Health Sciences Center Partner to Study Genetic Markers in Blood

  • Purpose: The goal of the BIG Initiative is to facilitate research in precision medicine relevant to clinical care across the state by developing resources to link and analyze genetic, health, and demographic data in these various populations. The BIG Initiative seeks to address the most-pressing health care needs in Tennessee, caring for vulnerable populations, eliminating health disparities, and engaging participating communities through innovative programs.

  • Process: Patients will be asked to participate in research and consent to one extra tube of blood to be drawn along with ordered lab tests. Participation in this research is always voluntary. If you wish to have your blood samples withdrawn, please contact us at (423) 439-4768.

  • Benefits: You will likely not benefit from this study, but the collection of your blood and medical data may contribute to studies leading to the improvement in health outcomes of others in the future.

  • Safety: Safeguards are in place on all participant health information. All samples are de-identified; no names, birthdays, or other patient information will ever be included. The federal government through the Genetic Information Nondiscrimination Act protects genetic information.

  • Risks: There is an inherent risk of bacterial infection, pain, and loss of consciousness during venipuncture in routine labs; the additional sample does not increase this risk. The greatest risk to you is the release of your private information. There is potential loss of confidentiality, since your de-identified medical record is shared with UTHSC.

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  • How is your donation used?
    The donated samples are being used to discover new associations between a person’s genes and human disease by actually sequencing the person’s genes and linking that to their known disease states. 
  • Is it secure? 
    Samples are de-identified immediately and there is no identification on the samples that are sent for genetic sequencing. All HIPAA guidelines are followed. 
  • How am I protected from insurance companies and employers? 
    The Genetic Information Nondiscrimination Act prohibits the use of your genetic material from being used against you.

 

Contact Us

 

Photo of James Adkins Director -Clinical Research Office

James Adkins

Director -Clinical Research OfficeInternal Medicine

Photo of Suzanna Kulikowski Clinical Research Coordinator

Suzanna Kulikowski

Clinical Research CoordinatorInternal Medicine