Below is a list of genes considered reportable or under consideration for reporting as secondary findings by clinical sites participating in several NHGRI genomic medicine research programs. Two of these programs - Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) and the Undiagnosed Diseases Network (UDN) - have not yet defined their reportable findings.
Please note there was wide variation across programs and sites on what was considered reportable depending on the participant's age and clinical phenotype (if any), the research approach and the evolving knowledge on which gene lists are based (see histogram below). Some sites used an alternate process for assessing reporting of secondary findings that did not rely on a gene list, reporting instead genes for which secondary findings had already been identified or a large list of genes against which preliminary filtering of variant data is performed for further evaluation.
Please also note that NHGRI does not specifically recommend or encourage reporting of genes within this list and that individual site lists may change over time. This list was assembled and posted for the purpose of informing the community of current practices among research centers in this highly evolving arena.
To collect this information, 21 clinical sites were asked to compile lists of all genes currently returned for secondary/incidental findings, or those that were under consideration for return. NHGRI programs that reported this information included the Clinical Sequencing Exploratory Research (CSER) program (10/10 sites reporting), the Electronic Medical Records and Genomics (eMERGE) Network (7/9 sites reporting), and the Implementing Genomics in Practice (IGNITE) consortium (5/6 sites reporting; the sixth is collecting only family history information, not genotypes).
To view this MS Excel spreadsheet, you will need MS Excel. You can download a free copy of the latest version of Excel Viewer from Microsoft.
Last Updated: April 1, 2015