Explanipedia

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening Open

Wendy K. K. Lam, Margie Ream, Scott D. Grosse, Jelili Ojodu, Elizabeth Jones , et al. · 2025

Metachromatic leukodystrophy (MLD) is a lysosomal disorder affecting about 1 per 100,000 newborns. It is caused by biallelic variations in the arylsulfatase A (ARSA) gene, leading to deficiency of ARSA enzyme activity leading to elevation …

Evidence Regarding Duchenne Muscular Dystrophy Newborn Screening Open

Alex R. Kemper, Wendy K. K. Lam, Jelili Ojodu, Elizabeth Jones, Hadley Stevens Smith , et al. · 2025

Variants in the DMD gene, located on the X chromosome, cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD reportedly affects about 2 per 10,000 newborn males, leading to progressive weakness and premature deat…

Chatbot for the Return of Positive Genetic Screening Results for Hereditary Cancer Syndromes: Prompt Engineering Project Open

Emma Coen, Guilherme Del Fiol, Kimberly A. Kaphingst, Emerson P. Borsato, Jackilen Shannon , et al. · 2025

The increasing demand for population-wide genomic screening and the limited availability of genetic counseling resources have created a pressing need for innovative service delivery models. Chatbots powered by large language models (LLMs) …

P619: Risk factors for malignant hyperthermia crises and subsequent complications to inform model development for population newborn screening Open

M.L. Henry, Hadley Stevens Smith, Madison Hickingbotham, Sarah Stein, Caitlyn Limanto , et al. · 2025

O45: Social determinants of health and the genetic diagnostic evaluation in the neonatal intensive care unit Open

Monica H. Wojcik, Hannah Park, Taylor Montgomery, Cassidy Scott, A. Mehra , et al. · 2025

Rare disease narratives on social media: A content analysis Open

H Park, Cassidy Scott, Hadley Stevens Smith, Monica H. Wojcik · 2025

Our data suggest that video-format social media allows community building among people affected by rare conditions. Insights from narratives expressed in this format may contribute to a better understanding of medical experiences in the co…

When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research Open

Katherine E. Bonini, Lauren Desrosiers, Ann Katherine M. Foreman, Nuriye Sahin‐Hodoglugil, Mary A. Majumder , et al. · 2025

Ethical tensions and logistical hurdles arise when considering CS that bridges research and clinical settings. Additional study of the appropriateness and feasibility of testing for relatives, especially in genomics in which distinctions b…

P542: Payer perspectives of genomic testing: Results from a systematic literature review Open

Julie Wiedower, Hadley Stevens Smith, Stephanie Davis, Christopher Farrell, Laura Rebek , et al. · 2025

P602: Developing an actionability framework for population genomic screening Open

Kimberly Foss, J. M. Berg, Kandamurugu Manickam, Caitlin G. Allen, Aaron J. Goldenberg , et al. · 2025

P550: Assessing the value of rare disease research: A qualitative study of investigators’ perspectives Open

M A HENRY, Kimberly LeBlanc, F. Sessions Cole, Meghan C. Halley, Hadley Stevens Smith · 2025

Modern Family: An Ethical Justification for System-Led Contact of Relatives Eligible for Cascade Screening in the United States Open

Katherine E. Bonini, Hadley Stevens Smith, Emily Bonkowski, Benjamin E. Berkman, Leila Jamal · 2024

Background: Though genomic science has rapidly advanced, efforts to demonstrate the population-level utility of genomics have been slow to follow. It has long been argued that the family is an important unit of significance in genomics, ye…

Early Intervention services in the era of genomic medicine: setting a research agenda Open

Katherine E. MacDuffie, Betty Cohn, Paul S. Appelbaum, Kyle B. Brothers, Dan Doherty , et al. · 2024

Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project Open

Maya C. del Rosario, Sheyenne A. Walmsley, Barbara W. Harrison, Crystal T. Stephens, Bethany Zettler , et al. · 2024

Purpose It is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemented. We conducted interv…

Modernizing Newborn Screening in the Genomic Era: Importance of Health-Related Quality of Life Open

Ellen Kim, Ann Chen Wu, Kurt D. Christensen, Davene R. Wright, Jennifer M. Yeh , et al. · 2024

Chatbot for the Return of Positive Genetic Screening Results for Hereditary Cancer Syndromes: a Prompt Engineering Study Open

Emma Coen, Guilherme Del Fiol, Kimberly A. Kaphingst, Emerson P. Borsato, Jackie Shannon , et al. · 2024

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants Open

Monica H. Wojcik, Maya C. del Rosario, Henry A. Feldman, Hadley Stevens Smith, Ingrid A. Holm · 2024

Background and Objectives Many genetic conditions present in the neonatal intensive care unit (NICU), where a diagnostic evaluation is pursued. However, understanding of the impact of a genetic diagnosis on clinical outcomes and health-rel…

Paving the path for implementation of clinical genomic sequencing globally: Are we ready? Open

Deborah A. Marshall, Nicolle Hua, James Buchanan, Kurt D. Christensen, Geert Frederix , et al. · 2024

Despite the emerging evidence in recent years, successful implementation of clinical genomic sequencing (CGS) remains limited and is challenged by a range of barriers. These include a lack of standardized practices, limited economic assess…

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing Open

Hadley Stevens Smith, Caryn Kseniya Rubanovich, Jill O. Robinson, Ariel Levchenko, Sarah A Classen , et al. · 2024

Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions Open

Hadley Stevens Smith, Michael C. Leo, Katrina A.B. Goddard, Kristin R. Muessig, Frank Angelo , et al. · 2024

Research Participants’ Perspectives on Precision Diagnostics for Alzheimer’s Disease Open

Hadley Stevens Smith, Jill O. Robinson, Ariel Levchenko, Stacey Pereira, Belén Pascual , et al. · 2024

Background: Understanding research participants’ responses to learning Alzheimer’s disease (AD) risk information is important to inform clinical implementation of precision diagnostics given rapid advances in disease modifying therapies. O…

P865: Rare disease narratives on social media Open

Cassidy Scott, Hannah Park, Hadley Stevens Smith, Monica H. Wojcik · 2024

Rare diseases collectively affect up to 10% of the global population and disproportionately contribute to morbidity, mortality, and healthcare spending. Although recent genomic advances have enabled identification of the molecular underpin…

P489: Pediatric exome sequencing compared with standard genetic testing: An analysis of private payer claims data Open

Hadley Stevens Smith, Madison Hickingbotham, Dawn Cardeiro, Matthew Lakoma, Ann Chen Wu , et al. · 2024

Exome sequencing (ES) is increasingly covered by private health insurers for pediatric indications. However, few studies have used real-world data to examine the impacts of genetic and genomic testing on health care utilization over time. …

P491: Enrollment of a diverse population into a trial of newborn genomic sequencing: Preliminary data from the BabySeq Project Open

Kurt D. Christensen, Hadley Stevens Smith, Madison Hickingbotham, Bethany Zettler, Stacey Pereira , et al. · 2024

Genomic sequencing can identify children at risk for many genetic disorders that biomarker-based screening may miss, raising excitement about its potential to complement conventional newborn screening programs. Limited data exist about who…

P858: Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project* Open

Hadley Stevens Smith, Madison Hickingbotham, Bethany Zettler, Tanner Coleman, Kelly M. East , et al. · 2024

Newborn genomic sequencing (NBSeq) may be implemented in parallel to, or integrated with, traditional public health newborn screening programs. NBSeq implementation will depend in part on attitudes of parents and health care professionals …

P507: Newborn genomic sequencing for Duchenne muscular dystrophy: Model-based insights Open

Hadley Stevens Smith, Madison Hickingbotham, Sarah Stein, Ellen Kim DeLuca, Niki Armstrong , et al. · 2024

Advances in the treatment of Duchenne muscular dystrophy (DMD), an X-linked pediatric onset neuromuscular disorder, have increased interest in early disease detection via newborn screening. Patients with DMD are typically symptomatic befor…

The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care Open

Hannah Hoban, Tiffany A. Yip, Joanna Chau, Jeannette T. Bensen, Lauren Desrosiers , et al. · 2023

Costs of implementing genomic testing innovations extend beyond the cost of sequencing, affecting personnel and infrastructure for which little data are available. We developed a time and motion (T&M) study within the Clinical Sequencing E…

Pediatric Genomic Medicine: Value, Implementation, and Access Open

Tara A. Lavelle, Hadley Stevens Smith · 2023

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing Open

Hadley Stevens Smith, Bart S. Ferket, Bruce D. Gelb, Lucia A. Hindorff, Kathleen D.M. Ferar , et al. · 2023

BACKGROUND AND OBJECTIVES Genomic sequencing (GS) is increasingly used for diagnostic evaluation, yet follow-up care is not well understood. We assessed clinicians’ recommendations after GS, parent-reported follow-up, and actions parents i…

Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical Issues Open

Hadley Stevens Smith, Emily Bonkowski, Madison R. Hickingbotham, Stacey Pereira, Thomas May , et al. · 2023

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing Open

Hadley Stevens Smith, Emily Bonkowski, Madison R. Hickingbotham, Raymond Belanger Deloge, Stacey Pereira · 2023

Families of children with rare and undiagnosed conditions face many psychosocial and logistical challenges that may affect their approach to decisions about their child’s care and their family’s well-being. As genomic sequencing (GS) is in…

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