Explanipedia

Health system-led early consent and direct contact of at-risk relatives: Pilot study results Open

Nora B. Henrikson, Aaron Scrol, Jamilyn M. Zepp, Melissa L. Anderson, Paula R. Blasi , et al. · 2025

Introduction: At-risk relatives of probands with genetic variants associated with hereditary cancer risk should receive cascade genetic testing. In the U.S., probands are expected to notify their own at-risk relatives, but many relatives n…

Implementation of a Traceback Testing Program for Ovarian Cancer: Findings from the FACTS Study Open

Nora B. Henrikson, M. Cabell Jonas, Paula R. Blasi, Adam H. Buchanan, Pim Suwannarat , et al. · 2025

Background: Traceback testing—identifying and offering testing to people with previous cancer diagnoses who have not received current standard genetic testing—could benefit patients and their at-risk relatives. Methods: We conducted a mult…

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing Open

David R. Murdock, Dongchuan Guo, John S. DePaolo, Ulrike Schwarze, Xueyan Duan , et al. · 2025

Individuals with heritable thoracic aortic disease (HTAD) face a high risk of deadly aortic dissections, but genetic testing identifies causative variants in only a minority of cases. We explored the contribution of non-canonical splice va…

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition Open

Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood , et al. · 2025

“I Didn't Have to Worry about It”: Patient and Family Experiences with Health System Involvement in Notifying Relatives of Genetic Test Results Open

Paula R. Blasi, Jamilyn M. Zepp, Aaron Scrol, John Ewing, Melissa L. Anderson , et al. · 2024

Introduction: In the USA, patients who undergo genetic testing for hereditary cancer risk are responsible for informing relatives about their genetic test results, but many relatives never find out they might be at risk. A health system-me…

Genetic predictors of blood pressure traits are associated with preeclampsia Open

Elizabeth A. Jasper, Jacklyn N. Hellwege, Joseph H. Breeyear, Brenda Xiao, Gail P. Jarvik , et al. · 2024

Preeclampsia, a pregnancy complication characterized by hypertension after 20 gestational weeks, is a major cause of maternal and neonatal morbidity and mortality. Mechanisms leading to preeclampsia are unclear; however, there is evidence …

P855: Traceback testing for ovarian cancer: Implementer and participant perspectives* Open

Nora B. Henrikson, Alanna Kulchak Rahm, Paula R. Blasi, Tracey Leitzel, Pim Suwannarat , et al. · 2024

As part of a National Cancer Institute-funded cooperative agreement, the Feasibility and Assessment of a Cascade Traceback Screening program for ovarian cancer (FACTS) study, Kaiser Permanente Mid-Atlantic States (KPMAS), Geisinger Health …

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts Open

Elizabeth Blue, Samuel J. Huang, Alyna Khan, Katie Golden‐Grant, Brenna Boyd , et al. · 2024

Developmental epileptic encephalopathy in <i>DLG4</i>‐related synaptopathy Open

Benedetta Kassabian, Amanda M. Levy, Elena Gardella, Ángel Aledo‐Serrano, Amitha Ananth , et al. · 2023

Objective The postsynaptic density protein of excitatory neurons PSD‐95 is encoded by discs large MAGUK scaffold protein 4 ( DLG4 ), de novo pathogenic variants of which lead to DLG4 ‐related synaptopathy. The major clinical features are d…

Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing Open

Jodell E. Linder, Ran Tao, Wendy K. Chung, Krzysztof Kiryluk, Cong Liu , et al. · 2023

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition Open

Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood , et al. · 2023

Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome, a…

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A Open

Andrew B. Stergachis, Elizabeth Blue, Madelyn A. Gillentine, Lee-kai Wang, Ulrike Schwarze , et al. · 2023

This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.

Dominant‐negative variant in <i>SLC1A4</i> causes an autosomal dominant epilepsy syndrome Open

Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth Blue, Giuseppe Albano, Danny E. Miller , et al. · 2023

SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L‐serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive m…

Genetic Predictors of Blood Pressure Traits are Associated with Preeclampsia Open

Elizabeth A. Jasper, Jacklyn N. Hellwege, Joseph H. Breeyear, Brenda Xiao, Gail P. Jarvik , et al. · 2023

Background Preeclampsia, a pregnancy complication characterized by hypertension after 20 gestational weeks, is a major cause of maternal and neonatal morbidity and mortality. The mechanisms leading to preeclampsia are unclear; however, the…

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A Open

Andrew B. Stergachis, Elizabeth Blue, Madelyn A. Gillentine, Lee-kai Wang, Ulrike Schwarze , et al. · 2023

Objectives Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely une…

P068: Feasibility and initial participation in traceback cascade screening programs for ovarian cancer implemented at three integrated health systems Open

Tracey Leitzel, Alanna Kulchak Rahm, Saumya Patel, Rachel Schwiter, Meredith Lewis , et al. · 2023

P679: “I would have had no idea”: Families’ experiences with a new US health system-mediated direct contact program Open

Paula R. Blasi, Jamilyn M. Zepp, Aaron Scrol, Melissa Anderson, John Ewing , et al. · 2023

P228: Sporadic and inherited genetic variants causing a blended phenotype in a patient with Kabuki syndrome and Loeys-Dietz syndrome, type 3 Open

Corina Pierce, Kathryn Beebe, Elsa Balton, Heidi Thiese, Kathleen A. Leppig · 2023

P390: Health system direct contact of relatives for cascade testing: Reach and initial acceptability in a prospective intervention study* Open

Nora B. Henrikson, Jamilyn M. Zepp, Paula R. Blasi, Melissa L. Anderson, Aaron Scrol , et al. · 2023

Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation Open

Paula R. Blasi, Aaron Scrol, Melissa L. Anderson, Marlaine Figueroa Gray, Brooks Tiffany , et al. · 2022

Background Genetic testing for pathogenic variants associated with hereditary breast and ovarian cancer risk can improve cancer outcomes through enhanced preventive care in both people with known variants and their biologic relatives. Casc…

Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases Open

Chenjie Zeng, Lisa A. Bastarache, Ran Tao, Eric Venner, Scott J. Hebbring , et al. · 2022

Importance Knowledge about the spectrum of diseases associated with hereditary cancer syndromes may improve disease diagnosis and management for patients and help to identify high-risk individuals. Objective To identify phenotypes associat…

Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network Open

Jill A. Madden, Kyle K. Brothers, Janet L. Williams, Melanie F. Myers, Kathleen A. Leppig , et al. · 2022

The annual ASHG dinner Open

Kathleen A. Leppig, Sharon E. Plon, Dianna M. Milewicz, Ephrat Levy‐Lahad, Gail P. Jarvik · 2022

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network Open

Kathleen A. Leppig, Alanna Kulchak Rahm, Paul S. Appelbaum, Sharon Aufox, Harris T. Bland , et al. · 2022

Implementation matters: How patient experiences differ when genetic counseling accompanies the return of genetic variants of uncertain significance Open

Harsh V. Patel, Nora B. Henrikson, James D. Ralston, Kathleen A. Leppig, Aaron Scrol , et al. · 2022

Precision medicine presents challenges for effective return of results (ROR) to patients, particularly for variants of uncertain significance (VUS) where the need for genetic counseling and the impact of results are underexplored. We inves…

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study Open

Andrew M. Glazer, Giovanni Davogustto, Christian M. Shaffer, Carlos G. Vanoye, Reshma R. Desai , et al. · 2021

Background: Sequencing Mendelian arrhythmia genes in individuals without an indication for arrhythmia genetic testing can identify carriers of pathogenic or likely pathogenic (P/LP) variants. However, the extent to which these variants are…

Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates Open

Hana Zouk, Wanfeng Yu, Andrea M. Oza, Megan Hawley, Prathik K. Vijay Kumar , et al. · 2021

Using Protection Motivation Theory to Predict Intentions for Breast Cancer Risk Management: Intervention Mechanisms from a Randomized Controlled Trial Open

Claire C. Conley, Karen J. Wernli, Sarah Knerr, Tengfei Li, Kathleen A. Leppig , et al. · 2021

Do research participants share genomic screening results with family members? Open

Julia Wynn, Hila Milo Rasouly, Tania Vásquez‐Loarte, Akilan M. Saami, Robyn Weiss , et al. · 2021

The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communication of results to family members. While the barriers and facilitators of family communication have been researc…

Effect of a Randomized Trial of a Web-Based Intervention on Patient–Provider Communication About Breast Density Open

Erin J. Aiello Bowles, Suzanne C. O’Neill, Tengfei Li, Sarah Knerr, Jeanne S. Mandelblatt , et al. · 2021

Background: Breast density increases breast cancer risk and decreases mammographic detection. We evaluated a personalized web-based intervention designed to improve breast cancer risk communication between women and their pro…

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