This application seeks to better understand the needs of patients undergoing genomic testing with respect to the understanding of an adaptation to genomic information through genomic counseling. Through an existing partnership between the Ohio State University Medical Center and the Coriell Institute's Personalized Medicine Collaborative, over 5000 participants have been enrolled in two studies aimed at evaluating the utility of personalized medicine. Both studies (parent study 1 - community cohort;parent study 2 - chronic disease cohort) involve genotyping and conveying genomic results for eight health conditions and one pharmacogenomic result directly to participants. This existing research collaboration provides the infrastructure and patient population to execute the following Study Aims.
Specific Aim 1 : To explore, through semi-structured participant interviews, the key elements desired to optimize patient understanding and empowerment in a genomic counseling session for multiplexed genetic and pharmacogenomic results. Working within the structure of the two existing Parent studies, we will gather feedback on current genetic counseling approaches (phone and in-person) on 60 study participants. Through phone interview, we will assess 1) perceived need for genomic counseling;2) reasons for pursuing or not pursuing genomic counseling;2) perceived barriers to genomic counseling 3) perceived utility of genomic counseling, 4) expectations of genomic counseling, 5) previous experience and familiarity with genomic counseling, and 6) preferences for alternative medical providers to assist with the interpretation of genomic information. These interviews will also provide insights on key issues regarding both the content and format of genomic counseling in this context.
Specific Aim 2 : To develop a genomic counseling service delivery model based on the data collected in Aim 1. A multidisciplinary team of experts with experience in genetic counseling and the development and evaluation of different methods of genetic education will lead the development of this new model.
Specific Aim 3 : To evaluate the impact of the novel genomic counseling delivery model (developed in Aim 2) compared to a traditional GC model and usual care (no counseling) on result comprehension, knowledge retention, perceived personal control, and satisfaction. We will survey 120 patients (40 randomized to genomic counseling;40 randomized to traditional genetic counseling;40 randomized to no counseling) on the outcomes of interest. Data generated will provide insight into the acceptability and feasibility of our proposed model and wil be used as a basis for planning future studies to evaluate the utility of this novel genomic counseling model. The proposed study is an essential step in the integration of genomic information into the healthcare system. Genetic counselors are a natural fit to facilitate the use of genomic information in medicine;however additional studies, such as those proposed must be done to understand how to best utilize genetic counseling services in this emerging field.

Public Health Relevance

Personalized medicine, the practice of offering tailored and individualized approaches to disease prevention and treatment, has the potential to improve the way we treat disease and prevent illness. A major component of personalized healthcare is genomic information. In order to realize the broad impact that genomic medicine can have on public health, it will be critical to effectively integrate new genomic discoveries into everyday medical practice. Genetic counselors are well poised to educate patients and healthcare providers on genomics and can serve to facilitate the evolution of healthcare into the genomic age.

National Institute of Health (NIH)
Exploratory/Developmental Grants (R21)
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Lockhart, Nicole C
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Ohio State University
Internal Medicine/Medicine
Schools of Medicine
United States
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