Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates.
J Genet Couns
; 28(2): 273-282, 2019 04.
Article
en En
| MEDLINE
| ID: mdl-30663825
ABSTRACT
As genomic sequencing has become available in pediatric clinical genetics settings, genetic counselors have been called upon to support individuals and families through the testing process. Technological and bioinformatic advancements, along with the availability of analytical expertise, have significantly reduced genomic sequencing turnaround times, enabling this powerful diagnostic tool to be used in neonatal intensive care units (NICUs) in place of or alongside traditional diagnostic strategies. It is important that pretest counseling for genomic sequencing prepares parents of critically unwell infants for the potential impacts of achieving a diagnosis, such as rare or ultra-rare diagnoses with limited disease-specific information, or the diagnosis of a life-limiting condition. Genetic counseling experiences and challenges arising in rapid genomic sequencing settings are yet to be discussed in the literature in detail. This paper uses illustrative cases as the basis to describe and discuss the emerging role of genetic counselors in NICU multidisciplinary care teams and the challenges and considerations which arise when facilitating ultra-rapid genomic diagnoses in acutely unwell neonates. Counseling issues discussed include providing pre- and posttest counseling in the medicalized NICU setting, facilitating informed decision-making at a time of acute distress for families, and special considerations around the possibility of ultra-rare diagnoses in neonates at the beginning of their diagnostic trajectory. As technology continues to drive practice, it is important genetic counselors remain abreast of these issues in order to appropriately support families through the genomic sequencing process and beyond.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Unidades de Cuidado Intensivo Neonatal
/
Pruebas Genéticas
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Secuenciación Completa del Genoma
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Asesoramiento Genético
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Enfermedades del Recién Nacido
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
J Genet Couns
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Australia