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Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic testing (EGT), is becoming more common. This type of testing has the potential to detect genetic conditions before there is a significant health impact permitting earlier management and/or treatment. Pre- and post-test counseling for EGT is similar to indication-based genetic testing. Both require a complete family and medical history when ordering a test or interpreting a result. However, EGT counseling has some special considerations including greater uncertainties around penetrance and clinical utility and a lack of published guidelines. While certain considerations in the selection of a high-quality genetic testing laboratory are universal, there are some considerations that are unique to the selection of a laboratory performing EGT. This practice resource intends to provide guidance for genetic counselors and other healthcare providers caring for adults seeking pre- or post-test counseling for EGT. Genetic counselors and other genetics trained healthcare providers are the ideal medical professionals to supply accurate information to individuals seeking counseling about EGT enabling them to make informed decisions about testing and follow-up.
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http://dx.doi.org/10.1002/jgc4.1654 | DOI Listing |
Eur J Obstet Gynecol Reprod Biol
August 2025
Reproductive Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen 518000 Guangdong, China; Shenzhen Clinical Research Center for Obstetrics & Gynecology and Reproductive System Diseases, Shenzhen 518000 Guangdong, China. Electronic address: szfyart
Objective: This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission.
Methods: This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE.
Prenat Diagn
September 2025
Department of Obstetrics and Gynecology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Objective: To address the current lack of a prenatal classification system for fetal lower limb anomalies, we developed and evaluated the PRELLIM (PREnatal Lower LIMb impairment) classification.
Method: A systematic literature review was conducted to identify existing classifications. Based on sonographic features, we developed the PRELLIM classification and applied it to a retrospective cohort of fetuses with isolated lower limb anomalies assessed between 2007 and 2024 at Amsterdam UMC's fetal medicine unit.
Prenat Diagn
September 2025
Program in Genetic Counseling, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.
Objective: This study aimed to explore participant reflections after receipt of prenatal genome sequencing (GS) results in the absence of fetal anomalies.
Methods: Participants invited to complete a semi-structured interview consented to future research, were English speaking, and were between 30 days and 1 year since the conclusion of their sequenced pregnancy. A total of 18 interviews were conducted with 21 participants (3 couples interviewed concurrently) representing 15 unique pregnancies (81% term deliveries, 14% terminated pregnancies, and 5% preterm delivery).
Breast Cancer Res Treat
September 2025
Departments of Breast and Endocrine Surgical Oncology, Tohoku University Graduate School of Medicine, Miyagi, Japan.
Purpose: This large-scale study presents the clinicopathological characteristics and cumulative incidence of contralateral breast cancer (CBC) in Japanese BRCA1/2 pathogenic variant carriers, including cases diagnosed after the implementation of national insurance coverage.
Methods: We analyzed 2949 breast cancer cases from the registry database of the Japanese Organization of Hereditary Breast and Ovarian Cancer.
Results: BRCA1 carriers predominantly developed triple-negative breast cancer, whereas BRCA2 carriers more frequently developed luminal-type tumors, with a younger age of onset observed in BRCA1 carriers.
Nat Med
September 2025
GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.
Although genomic sequencing presents groundbreaking newborn screening (NBS) opportunities, critical feasibility and utility questions remain. Here we present initial results from the Early Check program-an observational study assessing the feasibility and clinical utility of genomic NBS in North Carolina. Recruitment was statewide through mailed letters with electronic consent.
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