Public health genomics

01 19 October 2026

DOI 10.1159/phg/aenag008

Assessment of prostate cancer polygenic risk score in a community-based pilot study

Open DOI

Hui-Yi Lin, Carol Boxtha, Samaa El-Kolalli et al.

Background: Currently, prostate-specific antigen (PSA) testing remains the most important tool for prostate cancer (PCa) screening, yet it does not fully inform on personal risk level. Therefore, we collected information on screening beh...

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02 16 October 2026

DOI 10.1159/phg/aenag009

The Need for National Public Health Leadership in Planning for DNA-based Population Screening Across the Lifespan

Open DOI

Muin J. Khoury, Debra Duquette, Sonja A Rasmussen et al.

03 15 October 2026

DOI 10.1159/phg/aenag007

“I Don’t Think It Is Fair…There Should be a Solution to Every Problem”: Experiences of Individuals with Sudden Arrhythmia Death Syndromes Who Attempt to Obtain Life Insurance

Open DOI

Alexandra Blanco, Lisa Dellefave-Castillo, Megan Crowley-Matoka et al.

Sudden Arrhythmia Death Syndromes are a group of heritable genetic conditions that confer risk of sudden cardiac arrest or sudden cardiac death (SCA/SCD) in young, seemingly healthy individuals. Appropriate diagnosis of an SCA/SCD condit...

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04 30 September 2026

DOI 10.1159/phg/aenag005

Genetic Evidence Suggesting Potential Associations Between Sleep-Related Phenotypes and Psychiatric Disorders: A Two-Sample Mendelian Randomization Study

Open DOI

Gahyun Kim, Minyoung Kim, Kyung-Hun Sung et al.

Objective: Sleep-related phenotypes, including insomnia symptoms, sleep apnea, and habitual sleep duration, are increasingly recognized as potentially modifiable factors associated with psychiatric disorders. However, their potential cau...

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05 7 July 2026

DOI 10.1159/000551690

"I know that one day I will be cured": Perspectives on acceptability of curative therapies for sickle cell disease in Tanzania.

Open DOI

Daima Bukini, Kassim Kassim, Collins Kanza et al.

While curative treatments for sickle cell disease (SCD), including hematopoietic stem cell transplant and gene therapies are largely restricted to high-resource settings, recent advancements have raised hopes that they will eventually be...

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06 29 June 2026

DOI 10.1159/000553075

Optimizing reporting and outreach for surveillance and risk-reducing surgeries for cancer genetic predisposition: Findings of a workshop organized by the International Cascade Consortium

Open DOI

Bardha Citaku-Qerimi, Hanna Yttring, Sofia E. Andersson et al.

Introduction: Improving access to genetic testing has increased the number of individuals identified with cancer genetic predisposition. Hereditary Breast and Ovarian Cancer (HBOC) and Lynch syndrome (LS) are key examples of high-risk he...

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07 27 June 2026

DOI 10.1159/000553190

Key outcomes from a stakeholder workshop on genomic newborn screening: recommended next steps for the integration of genomics into public health programs

Open DOI

Saskia G. Smits, Annelotte J. Duintjer, Hermine A. van Duyvenvoorde et al.

Introduction: Technical advances and decreasing costs of next-generation sequencing have generated global interest in its potential for newborn screening (NBS). Genomic NBS (gNBS) enables the expansion of detectable conditions as a first...

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08 12 June 2026

DOI 10.1159/000552982

The IMPACT-FH Renewal Protocol: Evaluating FH Cascade Testing Implementation in Primary Care through a Pragmatic Trial, Economic Evaluation, and Mixed-Methods Sustainability Assessment

Open DOI

Kelly M. Morgan, Nicole L. Walters, Jazmine Gabriel et al.

Introduction: Familial hypercholesterolemia (FH) is a common autosomal dominant genetic disorder conferring a high risk of premature atherosclerotic cardiovascular disease (ASCVD), without early diagnosis and treatment. Underdiagnosis re...

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09 10 June 2026

DOI 10.1159/000552821

Hereditary Hemochromatosis and Hypertrophic Cardiomyopathy as Tier 1 Genomic Conditions: Implications for Adult Population Genomic Screening

Open DOI

Scott D. Grosse, Muin J. Khoury, W. David Dotson

10 10 June 2026

DOI 10.1159/000552754

Family Leaders Navigate Burden to Communicate Risk During Cascade Screening after Sudden Cardiac Death in the Young

Open DOI

Lisa Dellefave-Castillo, Franceska Bhansali, Lisa Shah et al.

Introduction: Relatives of a victim of sudden cardiac death in the young (SCDY) may be at-risk for hereditary cardiomyopathies and arrhythmias; effective communication of cardiac risk is imperative. Family leaders are often responsible f...

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