Duty to re-contact patients for updated genetic test results is a widely discussed topic and is routinely practiced by clinical laboratories. However, publications documenting results from retrospective testing are lacking. Within a cohort of 2977 individuals with Hereditary Breast and Ovarian Cancer and previously negative or inconclusive BRCA1/BRCA2 results, reanalysis found a new pathogenic variant in PALB2 in 18 individuals (0.6%). We developed a laboratory protocol to provide updated results to patients, which yielded various outcomes. Having a defined laboratory procedure for recontacting patients is likely to have positive outcomes benefiting both patients and their families while respecting patient autonomy. (By Radhika Mahajan, https://jmg.bmj.com/content/early/2023/12/18/jmg-2023-109652-0 )
Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting
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