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Fuller, Melissa SuzannePrimary Care Providers Believe Patient-Generated Family History Will Increase Ability to Assess Patient Risk
MS, University of Cincinnati, 2008, Allied Health Sciences : Genetic Counseling
Family history is the best predictor of an individuals risk for common disease, yet it is inaccurately used in routine care. We hypothesized that patient-generated family history can improve a primary care provider's ability to asses risk without decreasing the number of patients seen. We mailed surveys to 301 providers and had a response rate of 24% (n=68). Seventy-three percent felt a computer-generated pedigree would improve their ability to assess risk as compared to their current methods. Seventy percent felt a computer-generated pedigree would either have no effect on or increase the number of patients seen in a day. Results suggest that providers feel optimistic about the potential benefits of patient-generated family history and are open to the implementation of patient-generated family history into routine care.

Committee:

Melanie Myers, PhD, MS, CGC (Committee Chair); Cynthia Prows, MSN, CNS (Advisor); Thomas Webb, MD (Committee Member)

Subjects:

Genetics

Keywords:

Family history; primary care providers; common disease; genetic disease; family history tool

Grandine, HayleyPatient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease
MS, University of Cincinnati, 2016, Medicine: Genetic Counseling
Dual or multiple genetic diagnoses, although uncommon, are anecdotally evident from clinical geneticists and genetic counselors, and are found in 1% of individuals who undergo whole exome sequencing. Currently, there is no published research on the impact on families and patients of having a dual genetic diagnosis. This qualitative, exploratory study involved open-ended interviews with adult patients and parents of children affected by Neurofibromatosis Type 1 and another genetic disease. The goal was to develop an initial understanding of how having a second genetic diagnosis affects this population. A total of nine individuals participated in the study: six parents who had a child with a dual diagnosis and three adults with a dual diagnosis themselves. Thematic analysis was used to identify common themes in participant responses. Results indicated that the parents were strongly emotionally impacted by the diagnoses and often felt isolated. However, the affected adults did not report these negative impacts and considered themselves to be only mildly affected by their conditions. Both findings are consistent with previous research on individuals with one genetic condition. Although the difficulties of complex medical management and navigating the healthcare system also exist for families dealing with one genetic diagnosis, these challenges may be more severe for families dealing with two. Future research can be guided by these initial findings to further explore the needs of this population.

Committee:

Elizabeth Schorry, M.D. (Committee Chair); Carrie Atzinger, M.S. C.G.C. (Committee Member); Martha Walker, M.S. C.G.C. (Committee Member)

Subjects:

Genetics

Keywords:

Neurofibromatosis Type 1;Dual Diagnosis;Genetic Disease;Emotional Impact;Life Experiences