Reprogenetic News Roundup #5
Highlights from this week’s edition:
Repro/genetic Policy & Practice
The EU, UK, and Norway’s 1+ Million Genomes project to enable federated access to genomic, phynotypic, and clinical data cross 27 countries
How Spain emerged as the epicenter for egg donations
Chinese experts’ consensus guideline on preimplantation genetic testing of monogenic disorders
72% of Thai women persuade partners to seek genetic counseling if they are thalassemia carriers
Genetic Studies
Korean genomics company optimizes polygenic risk scoring for East Asians, finds European-derived models often valid for East Asians
Simulation concludes demographic history (bottlenecks, drift) are needed to model the history of selection of complex traits
Association Studies
Yale multi-ancestry GWAS for cannabis use disorder and lung cancer
Further Learning
Matthias Herdegen, The International Law of Biotechnology: Human Rights, Trade, Patents, Health and the Environment (Elgar, 2023)
Rei Tachibana and Toshiyasu Ando, Luck Is Hereditary: The Laws of Success Taught by Behavioral Genetics (2023 [in Japanese])
Datacamp Course: Analyzing Genomic Data in R
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Repro/genetics policy & practice
1+ Million Genomes initiative to enable federated access to genomic, phenotypic, and clinical data across 27 countries (European Commission)
1+ Million Genomes (1+MG) is an initiative of 25 EU countries, the UK, and Norway to develop secure access to genomic and corresponding clinical data across borders to enable better research, personalized healthcare, and health policymaking. 1+MG aims to create a federated and secure data infrastructure.
1+MG has adopted a 2023-2027 roadmap on “Scale up and sustainability” detailing plans for the coming years.
By 2024, at least six EU countries will have implemented common specifications and will be able to manage genomic data access.
By 2026, 15 countries will have an operational infrastructure in place. This is supported by the Genomic Data Infrastructure (GDI) project, co-funded by the European Commission.
1+MG has also launched the 1+MG Framework website, bringing together experts’ recommendations, guidelines and best practices on how to achieve this.
“How Spain emerged as the European epicenter for egg donations” (Genetic Literacy Project)
Spain reportedly performs more than half of all egg donation treatments in Europe. The country is the largest provider of donor eggs in the continent. Every year, thousands of fertility patients travel to Spain to access treatments.
Spain is a popular choice for private fertility treatments because any woman or man regardless of their civil status, sexual orientation, or age can access them. The country also tends to have short waiting lists.
Egg banks in Spain have proliferated in recent years, shipping donor eggs around the world, as part of a multi-million-euro industry.
Close to 15,000 women undergo egg extraction cycles every year in Spain. Spanish women reportedly donate for a mixture of altruistic and financial reasons: donors in Spain receive one of the highest rates of financial compensation (around €1,100 for a successful cycle).
Very little is known about women’s experiences of egg donation. The author interviewed egg donors and doctors, and observed women in fertility clinics to better understand the process.
Egg donation requires considerable preparation and involves genetic a health tests, 10 days of hormone injection, and surgery to retrieve the eggs.
The process entails health risks such as ovarian hyperstimulation syndrome and financial risks such as lack of compensation if no eggs are successfully retrieved or if complications result in loss of worktime.
The author argues hat as the demand for egg donation increases, there needs to be action to ensure egg donors are properly informed, cared for, and insured in case of complications and side-effects.
“Exploring danger, possibilities of genetic editing” (Catholic Register)
Dr. Brett Salkeld, theologian for the archdiocese of Regina, Saskatchewan, Canada, is raising attention to the risks and opportunities of gene editing in humans.
Dr. Salkeld said: “I think disease is the biggest thing. Single genetic mutation diseases would be the first thing on the chopping block. Something like Huntington’s Disease, which you would not wish on anybody, is a single mutation. Cancers will be more complicated, some more related to single mutations than others, but if we get good at this it could become a major player in cancer treatments.”
The theologian also warned on negative possibilities. In addition to the possibilities of genetic enhancement and designer babies, he raised the less discussed possibility of misusing the technology to create “sub-humans.” Dr. Salkeld said: “We might actually take away aspects of a person’s humanity to make them better soldiers, prostitutes, or whatever they might be.”
Regarding Catholic ethics, Salkeld said the Church is open to somatic gene treatments but much more “skeptical” regarding germline editing.
“The influence of sex on disease and treatment” (The Oxford Scientist)
The article highlights studies showing human sex differences in the likelihood of developing certain diseases (such as Alzheimer’s and Parkinson’s) and sex imbalances in clinical studies.
The author argues for addressing underreporting of sex differences in clinical studies and more sex-balanced GWAS.
More on repro/genetics policy & practice
“Chinese experts’ consensus guideline on preimplantation genetic testing of monogenic disorders” (Human Reproduction)
Successful use of preimplantation genetic testing to prevent transmission of pseudovaginal perineoscrotal hypospadias (PPSH) to the child (Medicine (Baltimore))
“72% of Thai women persuade partners to seek genetic counseling if they are thalassemia carriers” (EurekAlert!)
Genetic Studies
Genomics company optimizes polygenic risk scoring for East Asians (Biotimes, Korea)
Genoplan, a Korean genomics company, has announced that it has derived an optimal method to generate polygenic risk scores (PRS) for East Asians.
The study found that, contrary to expectations due to genetic heterogeneity between ethnic groups, the genetic risk analysis model for European ancestry also showed good performance in specific diseases in East Asians.
Byeong-cheol Lee, head of R&D at Genoplan, said: “PRS technology is attracting attention, but most of the genome data is accumulated mainly for Europeans, so there are limitations when applying it to other races. Through research, we were able to objectively evaluate the performance of Far-East Asians.”
He added: “There is a common belief that applying genome research results from the same race is the optimal method for predicting diseases. We have independently proven that it varies depending on the disease. This led us to establish an approach to provide more accurate results based on data for consumers not only in the Far East, but also in Southeast Asia and the Middle East.”
Genoplan officially launched genetic testing services in the domestic market in June 2023 and is providing direct-to-consumer (DTC) genetic testing methods and services through medical institutions.
The study results were published in Nature’s sister journal Scientific Reports.
“Multi-ancestry GWAS of cannabis use disorder yields insight into disease biology and public health implications” (Yale School of Medicine)
This GWAS shed new light on the genetic factors underlying cannabis use disorders (CanUD) and their potential link to lung cancer.
Researchers from Yale University and the U.S. Department of Veterans Affairs (USVA) identified 22 genetic variations associated with CanUD and potential causal consequences for lung cancer.
Study senior author Joel Gelernter said: “This study is a step forward in helping us to understand the biology of cannabis use disorder and provides us with better tools to work out how this disorder relates genetically and biologically to other disorders. This information may help in developing pharmacotherapy for cannabis use disorder.”
He added that this was “also a step towards – eventually — being able to personalize risk prediction and treatment.”
The study was published in Nature Genetics.
The results were also reported by GenomeWeb and French media (News 24, Ma Clinique).
“Polygenic risk of obesity and BMI trajectories over 36 years: A longitudinal study of adult Finnish twins” (Obesity)
Twin studies suggest that genetic factors explain nearly 80% of individual variation in body mass index (BMI) in young adulthood. GWAS have found a large number of common genetic variants associated with BMI.
This study investigated 36-year BMI trajectories in twins whose BMI in young adulthood was below, within, or above their genetically predicted BMI, with a focus on twin pairs with large intrapair BMI differences.
3227 like-sexed twin pairs (34% monozygotic) were examined at age ~30 years in 1975 and followed up in 1981, 1990, and 2011.
In monozygotic and dizygotic twin pairs with large intrapair BMI differences, the co-twin with a higher observed BMI in 1975 deviated above predicted BMI more frequently (~2/3) than the co-twin with a lower BMI deviated below prediction (~1/3).
The authors conclude that categorizing BMI as below, within, or above polygenic risk score-predicted BMI helps identify individuals who have been resistant or susceptible to weight gain.
“Heritability of complex traits in sub-populations experiencing bottlenecks and growth” (bioRxiv)
Populations that have experienced a bottleneck are regularly used in GWAS to investigate variants associated with complex traits. These isolated sub-populations may experience high frequency of otherwise rare variants with large effect size and provide a unique opportunity to study traits.
The study used a simulation to identify the impact of the demographic processes of drift, expansion, and migration on the heritability of complex traits.
The authors find that demography is an important component for interpreting inference of complex traits and has a nuanced impact on the power of GWAS. They conclude that demographic histories need to be explicitly modelled in order to properly quantify the history of selection on a complex trait.
More genetics news:
“Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder” (Nature Genetics)
“Study finds Y-chromosome impacts genetic basis of digestive problems” (The Economic Times, India)
“Predicting the molecular functions of regulatory genetic variants associated with cancer” (Medical Xpress)
“Evaluating 17 methods incorporating biological function with GWAS summary statistics to accelerate discovery demonstrates a tradeoff between high sensitivity and high positive predictive value” (Communication Biology)
“Tea consumption and risk of lung diseases: a two‑sample Mendelian randomization study” (BMC Pulmonary Medicine)
“Genome-Wide Association Study reveals novel loci associated with body conformation traits in Qinchuan cattle” (Animals)
Further Learning
Matthias Herdegen, The International Law of Biotechnology: Human Rights, Trade, Patents, Health and the Environment (Elgar, 2023)
Dr. Mattias Herdegen, the Director of the University of Bonn’s Institute of Public Law, provides a comprehensive and contemporary assessment of the regulation of biotechnology processes and products from an international and comparative perspective, complete with analysis of illegal and ethical debates. This updated second edition also covers recent developments in areas such as genome editing, biomedicine, COVID-19 vaccines, patents and biobanks.
Rei Tachibana and Toshiyasu Ando, Luck Is Hereditary: The Laws of Success Taught by Behavioral Genetics (2023 [in Japanese])
Best-selling author Rei Tachibana and behavioral geneticist Toshiyasu Ando have co-authored this the “shadow of genetic,” which they argue “covers every aspect of society and no one can escape it.” The authors explore the influence of genetics on intelligence, ability, personality, and even luck.
Datacamp Course: Analyzing Genomic Data in R
Disclaimer: The Genetic Choice Project makes every effort to include only reputable and relevant news, studies, and analysis on reprogenetics. We cannot fact-check the linked-to stories and studies, nor do the views expressed necessarily reflect those of the Genetic Choice Project.