| Autor: |
Panchal, Seema, Mahajan, Radhika, Aujla, Navneet, McKay, Paul, Casalino, Selina, Di Gioacchino, Vanessa, Charames, George S, Lefebvre, Maude, Metcalfe, Kelly A, Akbari, Mohammad Reza, McCuaig, Jeanna Marie, Lerner-Ellis, Jordan |
| Zdroj: |
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 5 p477-482, 6p |
| Abstrakt: |
ObjectiveThe purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients.MethodsGenetic testing was conducted on 2977 individuals originally referred for BRCA1and BRCA2hereditary breast and ovarian cancer testing that had a negative genetic test result. A gene panel was used to identify pathogenic variants in known or newly discovered genes that could explain the underlying cause of disease; however, analysis was restricted to PALB2for the purposes of this study. A patient recontact decision tree was developed to assist in the returning of updated genetic test results to clinics and patients.ResultsNovel clinically actionable pathogenic variants were identified in the PALB2gene in 18 participants (0.6%), the majority of whom were recontacted with their new or updated genetic test results. Eight individuals were unable to be recontacted; five individuals had already learnt about their new or updated findings from genetic testing outside the context of this study; three individuals prompted cascade testing in family members; two individuals were deceased.ConclusionNovel pathogenic variants in PALB2were identified in 18 individuals through retrospective gene panel testing. Recontacting these individuals regarding these new or updated findings had a range of outcomes. The process of conveying genomic results within this framework can be effectively accomplished while upholding patient autonomy, potentially leading to advantageous outcomes for patients and their families. |
| Databáze: |
Supplemental Index |
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