In the Literature
In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research
Maya Sabetello et al.
In a national online survey of people with disabilities, participants express interest in learning the biological and health-related results of precision medicine research. Interest in the surveyed group, however, is lower than that found in the general population and varies significantly across gender, race and ethnicity, and disability subgroups. This is the first study to explore the views of people with disabilities about the return of genomic and nongenomic results from precision medicine research.
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ELSI Virtual Forum
On June 15 and 16, Columbia ran a successful ELSI Virtual Forum celebrating the 30th anniversary of the Human Genome Project’s launch. The recordings, which include a session on polygenic risk scores for behavioral traits, can be accessed here.
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A Scenario-Based Methodology for Analyzing the Ethical, Legal, and Social Issues in Genomic Data Sharing
Remeka McWhirter et al.
Using an empirical approach, McWhirter and colleagues analyze legal and ethical issues in prototypical scenarios spanning a diversity of genomic data sharing practices.
Person-Oriented Ethics for Autism Research: Creating Best Practices through Engagement with Autism and Autistic Communities
M. Ariel Cascio et al.
Based on a literature review and a working group meeting with a mix of stakeholders, the Autism Research Ethics Task Force suggests several “person-oriented research ethics” guideposts for research involving autistic participants. The article includes both a technical and a lay abstract.
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Visual Disengagement: Genetic Architecture and Relation to Autistic Traits in the General Population
Monica Siqueiros Sanchez et al.
Using the Gap Overlap task in a sample of twins from the general population, scientists find no genetic contribution to visual disengagement, a hypothesized endophenotype for autism.
Genetic Aetiology of Self-Harm Ideation and Behaviour
Adrian I. Campos et al.
A GWAS of lifetime self-harm ideation and self-harm behavior identified one genome-wide significant locus associated with both phenotypes. The polygenic risk score (PRS) that the authors developed for self-harm ideation was significantly associated with suicidal thoughts and non-suicidal self-harm in an independent target sample, while the PRS developed for self-harm behavior predicted suicide thoughts and suicides attempts in the same population.
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In the Media
Michigan State VP of Research Stephen Hsu resigns
Wendy Guzman
Stephen Hsu, founder of Genomic Prediction, has resigned from his leadership position as vice president of research and innovation at Michigan State University, following calls from MSU’s Graduate Employees Union. Hsu will remain on faculty as a tenured professor of theoretical physics.
Dementia Gene Raises Risk of Severe COVID-19
EurekAlert
According to large-scale genetic analysis of UK Biobank data, having two copies of a variant associated with Alzheimer’s disease, APOE e4, doubles the risk of developing severe COVID-19.
UK to Launch World’s Largest Genetic Study into Chronic Fatigue Syndrome
Haroon Siddique
The UK plans to launch the world’s largest genetic study into chronic fatigue syndrome after receiving £3.2m of funding from the Medical Research Council and National Institute for Health Research. The research aims to shine a light on the debilitating long-term condition, about which little is known, by collecting DNA samples from 20,000 affected individuals and comparing them with unaffected samples in the UK Biobank.
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More In the Literature
Genomic Testing and Counseling: The Contribution of Next-Generation Sequencing to Epilepsy Genetics
Lamia Alsubaie et al.
Next-generation sequencing technology appears to be a suitable testing approach for patients with genetically heterogeneous seizures and epilepsy disorders, yielding a diagnostic rate of 23% for a study cohort of 420 individuals. Genetic counseling plays an important role in this approach and depends on pedigree interpretation that is sensitive to penetrance and expressivity.
State of the Art of Genetic Testing for Patients with Autism: A Practical Guide for Clinicians
Bracha L. Kreiman and Richard G. Boles
This practice-oriented review guides clinicians on genetic testing for autism, particularly regarding the issues of whom to test, what tests to order, and how testing might alter management and improve outcomes.
Studying Individual Risk Factors for Self-Harm in the UK Biobank: A Polygenic Scoring and Mendelian Randomisation Study
Kai Xiang Lim et al.
Major depressive disorder, attention deficit/hyperactivity disorder, and schizophrenia likely play a role in the etiology of self-harm, whether suicidal or non-suicidal. These findings suggest that systematic detection and treatment of core psychiatric symptoms, including psychotic and impulsivity symptoms, may be beneficial among people at risk for self-harm.
Association of OPRM1 Functional Coding Variant with Opioid Use Disorder: A Genome-Wide Association Study
Hang Zhou et al.
Opioid use disorder is associated with a significant genetic variant, OPRM1, in individuals of European ancestry--an association that does not hold for persons of African ancestry. Further genetic correlations have been identified between opioid use disorder and 83 traits, including tobacco use, neuroticism, and cognitive performance.
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