2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Multi-dimensional and Longitudinal Impact of a Genetic Diagnosis for Infants in an Intensive Care Unit

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This study aimed to evaluate the impact of a genetic diagnosis on parents of infants in the neonatal intensive care unit (NICU). Surveys were sent to parents of infants who had undergone clinical genetics consultation and were undiagnosed at the time of enrollment. The surveys explored parental values regarding genetic diagnosis, indirect costs of care, and health-related quality of life outcomes. Clinical outcomes were also abstracted from the electronic medical records, including the genetic diagnosis, presenting phenotype, and lengths of stay in the NICU and hospital.<br /><br />Statistical analyses were conducted to assess the impact of a diagnosis on parental values and quality of life outcomes. The results showed that identifying a genetic diagnosis was considered important by parents, and they believed it would lead to better treatments and improve their understanding of their child's illness. Parents of diagnosed infants reported feeling more prepared and less worried compared to undiagnosed infants. The quality of life outcomes also differed between diagnosed and undiagnosed infants, with diagnosed infants experiencing less discomfort and pain at 3 months and better general health perception at 12 months.<br /><br />Overall, the study found that a genetic diagnosis was highly desired by parents in the NICU. However, the level of interest decreased over time for undiagnosed families, suggesting that parents may adapt and accept their child's condition. The study highlights the importance of genetic diagnosis in the NICU and its impact on parental values and quality of life outcomes.

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Presenting Author - Monica H. Wojcik, MD, MPH, FAAP, FACMG; Co-Author - Maya C. del Rosario, BA; Co-Author - Ingrid A. Holm, MD, MPH;

Meta Tag

Clinical History

Ethical Legal and Social Issues

Genetic Testing

Natural History

Psychosocial Issues

Co-Author Maya C. del Rosario, BA

Co-Author Ingrid A. Holm, MD, MPH

Presenting Author Monica H. Wojcik, MD, MPH, FAAP, FACMG

Keywords

genetic diagnosis

parents

infants

neonatal intensive care unit

clinical outcomes

health-related quality of life

parental values

prepared

discomfort

acceptance