Welcome to European Journal of Human Genetics
Providing insights into human genetics, genomics, molecular, clinical and cytogenetics research
Featured
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Identification of the DNA methylation signature of Mowat-Wilson syndrome
- Stefano Giuseppe Caraffi
- Liselot van der Laan
- Livia Garavelli
ArticleOpen Access
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Secondary use of genomic data: patients’ decisions at point of testing and perspectives to inform international data sharing
- Melissa Martyn
- Emily Forbes
- Clara Gaff
ArticleOpen Access
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Ethical and social implications of public–private partnerships in the context of genomic/big health data collection
This paper reports on the findings of an international workshop organised by the UK-France+ Genomics and Ethics Network (UK-FR + GENE) in 2022. The focus of the workshop were the ethical and social issues raised by public-private partnerships in the context of large-scale genomics initiatives in France, Germany, the United Kingdom and Israel, i.e. collaborations where commercial entities are given access to publicly held genomic data. While the public sector relies on partnerships with commercial entities to exploit the full potential of the data it holds, such collaborations may have an impact on the return of benefits to the public sector and on public trust, and subsequently challenge the social contract. The first part of this paper explores the ways in which the four countries examined respond to the challenges posed to the social contract, and what safeguards they put in place to secure public trust. The second part presents three approaches to address the challenges of private-public partnerships in secondary data use. In conclusion, this paper offers a set of minimum requirements for these partnerships within solidarity-based publicly funded healthcare systems. These include the necessity of public-private partnerships to (1) contribute to the public benefit and minimise harm produced by the use of publicly held data; (2) avoid prioritisation of commercial interests over robust governance structures to guarantee benefits to the public and protect donors, especially marginalised groups; (3) side-step the pitfalls of the rhetoric of solidarity and be transparent about the challenges to return the benefits to ‘all’.
- Ruth Horn
- Jennifer Merchant
- The UK-FR+GENE (Genetics and Ethics Network) Consortium
Meeting ReportOpen Access
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Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort
- Madeline Pearson
- Ruth McGowan
- Jonathan Berg
Brief CommunicationOpen Access
Current issue
What’s new in EJHG in June 2024?
- Alisdair McNeill
Editorial
Catching the next wave? The relationship between UNESCO and developments in genomics
- Oliver Feeney
CommentOpen Access
Ethical and social implications of public–private partnerships in the context of genomic/big health data collection
- Ruth Horn
- Jennifer Merchant
- Eva Winkler
Meeting ReportOpen Access
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
- Saar van Pottelberghe
- Nina Kupper
- Saskia N. van der Crabben
Review ArticleOpen Access
Identification of the DNA methylation signature of Mowat-Wilson syndrome
- Stefano Giuseppe Caraffi
- Liselot van der Laan
- Livia Garavelli
ArticleOpen Access
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
- Claudio Peter D’Incal
- Dale John Annear
- R. Frank Kooy
Article
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Announcements
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Call for Papers
- Special Issue on Severity in the Genomic Age
- We welcome submissions to this special issue on a wide range of topics relevant to the concept of severity, including ethical reflections, its application, its significance and understandings, prioritisation etc.
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Call for Papers
- Genomic Testing in Low and Middle Income Countries (LMIC)
We invite submissions for a special issue in EJHG on genomic testing in low and middle income countries. This is an important and timely topic, as genomic testing has the potential to revolutionize healthcare in these regions, but it also presents unique challenges and ethical considerations.
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Human Genomic Aspects of the COVID-19 Pandemic
- Don’t miss the journal’s latest collection on Human Genomics Aspects of the COVID-19 Pandemic.
COVID-19 is representing a challenge for health systems and society. It is also the first real opportunity to move forward on understanding mechanisms and new rules useful in clinical practice of complex disorders. This special issue summarizes the key steps toward these achievements.
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Browse articles
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Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX
- Valancy Miranda
- Pascale Sabeh
- Philippe M. Campeau
Article
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Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases
- Harvy Mauricio Velasco
- Aida Bertoli-Avella
- Juliana Espinosa Moncada
ArticleOpen Access
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Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci
- Alexandra Baumann
- Christian Ruckert
- Corinna Ernst
ArticleOpen Access
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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
- Erin Tutty
- Alison D. Archibald
- Stephanie Best
ArticleOpen Access
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Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study
- Molly Parfett
- Faye Johnson
- Fiona Ulph
ArticleOpen Access
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Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene
- Nadya S. Andhika
- Susmito Biswas
- Panagiotis I. Sergouniotis
ArticleOpen Access
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What’s new in EJHG in June 2024?
- Alisdair McNeill
Editorial
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A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria
- Caroline M. Gorvin
CommentOpen Access
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POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program
- Marta Baptista Freitas
- Laurence Desmyter
- Daphné t´Kint de Roodenbeke
ArticleOpen Access
Collections
Human Genomic Aspects of the COVID-19 Pandemic
This collection covers articles on COVID-19 host genomics with an aim to increase our understanding of host genomic aspects that predispose to infection and transmission of COVID-19 and contribute to illness severity.
Collection
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Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations
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Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations
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Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases
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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
