Reporting of secondary findings in clinical genomic sequencing: national guidelines are required

Theisen, Patrícia; Rodrigues, Pedro; Gonçalves, João

http://hdl.handle.net/10400.18/8135

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Authors

Theisen, Patrícia

Rodrigues, Pedro

Gonçalves, João

Abstract(s)

Introduction: The rapid and growing integration of exome and genome sequencing into clinical genetic diagnosis raises awareness regarding the identification of variants of potential clinical value unrelated to the primary reason for testing (secondary findings, SF). SF pose major challenges, as multiple issues (medical, legal, ethical, economic) and different contexts (e.g. paediatric and prenatal diagnosis, patient and family management, research in rare diseases) must be considered, highlighting the importance to promote standardized reporting of SF. We aim to bring to the consideration of the Portuguese Society of Human Genetics (SPGH) the urgent need for issuing national guidelines for reporting SF from clinical sequencing. Methodology: Consultation and review of guidelines for reporting SF in clinical exome and genome sequencing from different organizations, focusing on the ones issued by the American College of Medical Genetics and Genomics (ACMG)1, the European Society of Human Genetics (ESHG)2 and the French Society of Predictive and Personalized Medicine (SFMPP)3. Results: The ACMG recently published SF v3.0 list4 includes 73 clinically actionable genes mainly related to cancer and cardiovascular phenotypes, for which causal SF should be reported unless patients opted out. The ESHG recommends a more cautious approach, stating that genomic analysis should be as targeted as possible for the time being because a broader analysis raises complex issues in clinical practice. The SFMPP restricts its guidelines for reporting pathogenic SF to a list of 36 actionable cancer genes, requiring a double consent from the patient. Discussion: Considering the diversity of approaches and the complexity involved in reporting SF, we propose that the SPGH should promote the creation of a multidisciplinary workgroup involving all the stakeholders to put forth official national guidelines for reporting SF in clinical sequencing. References 1. Miller DT et al. Genet Med. 2021;23:1381. 2. de Wert G et al. Eur J Hum Genet. 2021;29:365. 3. Pujol P et al. Eur J Hum Genet. 2018;26:1732. 4. Miller DT et al. Genet Med. 2021; 23:1391.