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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
[What are the genetic practices of SFCE oncopediatricians? A study of the CONECT-AML ethical group]
Audrey Guilmatre1, Dominique Davous2, Amélie de Haut de Sigy3
1AP-HP, hôpital Armand-Trousseau, Sorbonne université, service d'hématologie et d'oncologie pédiatrique, 26, avenue Arnold-Netter, 75012 Paris, France; CONECT-AML (COllaborative Network for Children and Teenagers with Acute Myeloid Leukemia), Paris, France.
Introduction:
Somatic genetic tests carried out by new high-throughput sequencing techniques (NGS) are now integrated into the care of children with cancer and leukemia. They can reveal constitutional abnormalities. We questioned the practices of pediatricians in carrying out genetic tests.
Methods:
Survey was carried out among pediatric onco-hematologists and residents who have completed a pediatric hematology-oncology internship.
Results:
Pediatricians mainly prescribe somatic genetic analyses. They are aware that they can reveal constitutional anomalies and inform the parents. Practices in terms of consent to genetics are heterogeneous. The regulatory aspects are poorly known. The child is still little considered in decisions, including when he reaches majority. Parents are informed of the existence of genetic information consultations mainly in the event of suspicion of a constitutional anomaly. Pediatricians, like residents, consider their knowledge of genetics insufficient. Despite this, they feel more comfortable communicating with families while residents say they are uncomfortable conducting a genetic interview.
Conclusion:
Extensive use of NGS for diagnosis confronts pediatricians with ethical questions about information, consent and the return of results. The support of the child must be taken more into account. Ways are mentioned for a better appropriation of the difficulties, while respecting the regulatory framework. The place of the pediatrician and that of the geneticist would aim to be clarified. Specific training, from the internship, would improve support for families and patients.
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