Event Title

An Investigation Of The Barriers To Accessing Genetic Testing Among Individuals With Hermansky-Pudlak Syndrome

Faculty Mentor

Jill Fischer

Major/Area of Research

Genetic Counseling

Description

Genetic services for individuals with rare genetic diseases play an integral role in improving medical management. In the case of Hermansky-Pudlak Syndrome (HPS), a rare multisystem disorder characterized by oculocutaneous albinism, genetic testing proves advantageous for determining a subtype diagnosis aiding symptom management and surveillance. To improve the standard of care for patients with HPS, one must first understand the barriers preventing access to genetic services, specifically genetic testing. This study hypothesized that access to genetic testing is limited for individuals with HPS due to an increased incidence of the following: 1) institutional barriers, 2) personal knowledge barriers, and 3) internal psychosocial barriers. A written survey from the Genetic Alliance inclusive of questions for this study was distributed to individuals with genetic conditions including HPS. The data citing barriers to genetic testing was compared and contrasted between participants with HPS to those with other genetic conditions. Contrary to the hypothesis, no increased incidence of barriers to genetic testing was observed amongst individuals with HPS compared to individuals with other genetic conditions. Overall, participants reported institutional barriers as the most common barrier. Further investigation is required to determine if individuals with rare genetic conditions, such as HPS, experience unique challenges compared to individuals with more common genetic conditions. The high incidence of institutional barriers suggests improving the quality of care for individuals with any genetic condition will require targeted reform from the top down, first addressing obstacles at the provider level before patients uniformly benefit from appropriate access to genetic services.

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An Investigation Of The Barriers To Accessing Genetic Testing Among Individuals With Hermansky-Pudlak Syndrome

Genetic services for individuals with rare genetic diseases play an integral role in improving medical management. In the case of Hermansky-Pudlak Syndrome (HPS), a rare multisystem disorder characterized by oculocutaneous albinism, genetic testing proves advantageous for determining a subtype diagnosis aiding symptom management and surveillance. To improve the standard of care for patients with HPS, one must first understand the barriers preventing access to genetic services, specifically genetic testing. This study hypothesized that access to genetic testing is limited for individuals with HPS due to an increased incidence of the following: 1) institutional barriers, 2) personal knowledge barriers, and 3) internal psychosocial barriers. A written survey from the Genetic Alliance inclusive of questions for this study was distributed to individuals with genetic conditions including HPS. The data citing barriers to genetic testing was compared and contrasted between participants with HPS to those with other genetic conditions. Contrary to the hypothesis, no increased incidence of barriers to genetic testing was observed amongst individuals with HPS compared to individuals with other genetic conditions. Overall, participants reported institutional barriers as the most common barrier. Further investigation is required to determine if individuals with rare genetic conditions, such as HPS, experience unique challenges compared to individuals with more common genetic conditions. The high incidence of institutional barriers suggests improving the quality of care for individuals with any genetic condition will require targeted reform from the top down, first addressing obstacles at the provider level before patients uniformly benefit from appropriate access to genetic services.