[What are the genetic practices of SFCE oncopediatricians? A study of the CONECT-AML ethical group].

Bull Cancer

AP-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; Sorbonne Université, UMRS_938, CDR Saint-Antoine, SIRIC CURAMUS, Paris, France. Electronic address:

Published: November 2022

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.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bulcan.2022.07.001DOI Listing

Publication Analysis

Top Keywords

somatic genetic
8
reveal constitutional
8
genetic
5
[what genetic
4
genetic practices
4
practices sfce
4
sfce oncopediatricians?
4
oncopediatricians? study
4
study conect-aml
4
conect-aml ethical
4

Similar Publications

Germline Variant With Somatic Amplification in a Woman With Inflammatory Diseases and Myelodysplastic Syndrome.

Ann Intern Med

January 2025

Center for Hematology and Regenerative Medicine, Department of Medicine Huddinge, Karolinska Institutet, and Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.

View Article and Find Full Text PDF

The current understanding of humoral immune response in cancer patients suggests that tumors may be infiltrated with diffuse B cells of extra-tumoral origin or may develop organized lymphoid structures, where somatic hypermutation and antigen-driven selection occur locally. These processes are believed to be significantly influenced by the tumor microenvironment through secretory factors and biased cell-cell interactions. To explore the manifestation of this influence, we used deep unbiased immunoglobulin profiling and systematically characterized the relationships between B cells in circulation, draining lymph nodes (draining LNs), and tumors in 14 patients with three human cancers.

View Article and Find Full Text PDF

Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome.

View Article and Find Full Text PDF

Background: Anti-angiogenic agents, such as nintedanib and ramucirumab, when combined with docetaxel, are subsequent treatment options in patients with non-small cell lung cancer (NSCLC) who have failed on first-line chemotherapy or immunochemotherapy. However, to date, there are no validated predictive biomarkers for efficacy of anti-angiogenic therapies in this setting. The aim of this study was to explore whether genetic or genomic markers, alone or combined with clinical covariates, could be used to predict overall survival (OS) in patients with NSCLC who are eligible for treatment with nintedanib plus docetaxel.

View Article and Find Full Text PDF

Background: Genomic data is essential for clinical decision-making in precision oncology. Bioinformatic algorithms are widely used to analyze next-generation sequencing (NGS) data, but they face two major challenges. First, these pipelines are highly complex, involving multiple steps and the integration of various tools.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!