The field of genetics within healthcare settings is expanding, including increased options and availability of clinical genetic service. Consumer perspective related to engagement in these services helps to determine the need for and value of clinical genetic services. Children with rare genetic disorders and families with genetic concerns are a population who may benefit from the current advancement in the field of clinical genetics. Understanding the experiences of parental users of clinical genetic services was explored through the research question, “What are the experiences and perceptions of parents of children with rare genetic disorders with their clinical genetic services?” The research methodology of generic qualitative design was utilized to assist with understanding the participant’s opinions and reflections based on their personal experiences. Sixteen mothers and fathers of children with rare genetic disorders completed semi-structured interviews from which data was collected. The interviews were digitally recorded, the recordings transcribed, and data analyzed using thematic analysis. The seven themes identified through data analysis included (a)complexity of the diagnosis process, (b) physical and emotional benefits of the diagnosis, (c) shared empowerment of diagnosis, (d) disillusionment with the medical community, (e) frustration with the community lack of knowledge in the area of genetics, (f) incorporating knowledge regarding genetics in future family planning, and (h) positive and negative support from the medical community. The data revealed that parents of children with rare conditions require and appreciate direction from healthcare providers. Many parents discussed their frustration with the limited knowledge exhibited by medical professionals regarding their child’s condition and narrow awareness of clinical genetic service provision opportunities within the healthcare field. Additionally, many parents described the lack of support provided by members of the medical community for helping them navigate the process of diagnosing their children. The findings illustrate parents’ perceptions related to their experiences with clinical genetic service engagement. There is a noted emphasis on the need for increased awareness and education of the medical community related to the current technological advancement in the field of genetics and genetic testing.
|Commitee:||Darnel, Jolee, Johnson, Richard B.|
|Department:||Counseling and Human Services|
|School Location:||United States -- Minnesota|
|Source:||DAI-B 80/09(E), Dissertation Abstracts International|
|Subjects:||Public Health Education, Public health, Individual & family studies, Health care management|
|Keywords:||Clinical genetic services, Genetic counseling, Genetic testing, Newborn screening, Pediatric, Rare genetic disorders|
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