Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content


Main|Search|PHGKB
Search PHGKB:

Last Posted: May 25, 2023
spot light Highlights

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: yield and dilemmas
LB Salmon et al, Genet Med Open, May 2023

Active search for RRFs, IFs and SFs yields a high rate of findings that may contribute to individual medical care in parents of probands undergoing ES. A structured approach to overcome the challenges associated with reporting these findings should be considered before such active search can be broadly adopted in clinical genomic data analysis.

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association
AP Landsrtom et al, Circ Genomics & Prec Med, March 27, 2023

The goal of this American Heart Association consensus statement is to provide guidance to clinicians who are called on to evaluate patients with incidentally identified genetic variants in monogenic cardiovascular disease genes and to assist them in the interpretation and clinical application of variants. This scientific statement outlines a framework through which clinicians can assess the pathogenicity of an incidental variant, which includes a clinical evaluation of the patient and the patient’s family and re-evaluation of the genetic variant in question.

Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Cuppen Edwin et al. JCO precision oncology 2022 12 e2200245

We review the current studies implementing WGTS in health care systems and provide a synopsis of the clinical evidence and insights into practical considerations for WGTS implementation. We reflect on regulatory, costs, reimbursement, and incidental findings aspects of this test. WGTS is an appropriate comprehensive clinical test for many tumor types and can replace multiple, cascade testing approaches currently performed.

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research
AR Blumling et al, J Per Med, November 16, 2022

We returned P/LP results to 29 participants with outcome data. For 23 of the 29 participants, the P/LP results were previously unknown. Five of the 23 participants were already followed for conditions related to the P/LP variant. Of those receiving novel results and not being followed for the condition related to the P/LP result (n = 18), 14 (77.8%) had a change in healthcare after return of results (RoR). Following RoR, cascade testing of family members occurred for 10 of 23 (43.5%). Our findings demonstrate how return of genomic screening results impacts healthcare in pediatric populations

Search Result Summary


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

TOP