Reprogenetic News Roundup #4
Highlights from this week’s edition:
Preimplantation genetic testing (PGT) market projected to almost double, reaching $1.2 billion by 2028
Successful experience of patients using PGT to screen out breast cancer genes in their future child
New Diaspora Human Genomics Institute aims to sequence 500,000 genomes of African ancestry
Genetic association studies
Taiwan Biobank genome-wide association study (GWAS) identified hundreds of loci linked to quantitative traits
Mount Sinai researchers found more than 4,700 gene clusters crucial for prognosis in 32 cancer types
Multi-ancestry study reveals 187 new genetic risk factors for prostate cancer
Multi-ancestry genetic mapping of Alzheimer’s
Multi-ancestry GWAS of cranial vault shape
Risk of lung cancer in Taiwanese never-smoking women
In other major genetic news, the British medicines agency is the first in the world to authorize CRISPR gene therapy to cure sickle-cell disease. Authorization by the U.S. FDA is also expected. The New York Times reports on a study suggesting gene therapy can reduce cholesterol.
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Repro/genetics
Preimplantation genetic testing market projected to reach $1.2 billion by 2028 (Open PR)
A market research report forecasts that the global market for preimplantation genetic testing is expected to rise from $0.7 billion in 2023 to $1.2 billion by 2028, with compound annual growth of 11.4%.
Next-Generation Sequencing (NGS) has enabled reduced cost and better ability to detect mosaicism or structural abnormalities such as chromosomes with missing or duplicate segments.
Testing for aneuploidy — an abnormal number of chromosomes — accounted for the highest growth in the sector.
By application, the market is segmented into aneuploidy, structural chromosomal abnormalities, single gene disorders, X-linked disorders, HLA typing, and gender identification.
The market has the highest growth in the Asia-Pacific region had the highest growth. With rising disposable income, China and India are expected to see massive further growth in the sector.
“Preimplantation genetic testing for genetic diseases: limits and review of current literature” (Genes)
This literature review provides an overview on the current practice and limits of preimplantation genetic testing (PGT) for diseases.
Issues covered include mongenetic disorders, aneuploidy, mosaicism, and innovative approaches that seek to test multiple disorders.
“Preimplantation genetic testing for monogenic disorders: clinical experience with BRCA1 and BRCA2 from 2010–2021” (Journal of Assisted Reproduction and Genetics)
The study examined the reproductive decisions and outcomes of BRCA-positive patients (predisposed to developing breast cancer) who used preimplantation genetic testing for monogenic disorders (PGT-M).
86% of these patients at a large academic fertility center managed to obtain a BRCA-negative euploid embryo. 59% of transferred embryos resulted in live births.
The authors conclude that PGT-M is a viable option for BRCA-positive patients to have families while avoiding transmission.
More on repro/genetics:
“Over 86% of Thai and Indonesian women consider thalassemia screening after learning about associated health risks” (Yahoo!Finance)
“Preimplantation genetic diagnosis and its benefits” (Journal of Fertilization)
“Eli Lilly’s chief scientist on new obesity drug data, gene editing, and a potential new heart drug” (STAT)
“The impact of rare disease on siblings and the opportunity for genetic counselors” (NSGC Perspectives)
“Protecting the next generation: 3 benefits of preimplantation genetic testing” (ReUnite)
Genetic Studies
“Taiwan Biobank GWAS analyses lead to hundreds of quantitative trait loci” (GenomeWeb)
A team from Taiwan, the US, and Finland has uncovered hundreds of new genetic loci linked to three dozen quantitative traits using data from the Taiwan.
Using genotyping profiles of 102,900 individuals in the Taiwan Biobank, the investigators searched for genome-wide significant ties to 36 quantitative traits, ranging from height, weight, or body mass index to bone density, blood cell measures, metabolic markers, and other quantifiable traits, leading to 1,986 genome-wide significant associations in the Taiwanese participants.
By combining GWAS data from the Taiwan Biobank with data for up to 158,282 Biobank Japan participants and 361,194 UK Biobank participants, the team went on to find 3,825 loci linked to the quantitative traits considered, including 968 trait-associated loci from individuals in Taiwan that had not been found in other populations in the past. Nearly 3,400 loci were associated with a subset of 24 traits in individuals of East Asian ancestry.
The analysis revealed genetic variants influencing these traits in Taiwanese individuals that overlap with or are distinct from those found in other populations.
Senior author Yen-Feng Lin argued the work showed the importance of using diverse genetic data to boost investigators’ understanding of complex traits and diseases around the world. He said the approach “has the potential to inform more tailored healthcare strategies across different populations.”
Lin further suggests such research “can enhance disease risk prediction and pave the way for personalized medicine.”
The findings appeared in Cell Genomics.
“New initiative aims to sequence half a million genomes of people with African ancestry for health studies” (Science)
An industry-academic initiative aims to create the largest ever database of genomes exclusively from people with African ancestry.
Four biopharma companies contributing $80 million have teamed up with Meharry Medical College—a historically black college—to launch the effort, which hopes to recruit up to 500,000 African Americans and people from Africa to combine their DNA and medical data into a biobank for health studies.
People of African ancestry are among the most genetically diverse in the world, yet they make up less than 0.5% of participants in genetic studies and are still underrepresented in major genetic databases. In the UK Biobank, one of the largest in the world, about 1.6% of the half-million participants identify as black.
The lack of representation means disease-causing mutations unique to Africans are missed. Tools for predicting disease risks or treating patients that were developed with data from those of European descent—may not work as well in patients with African ancestry.
Regeneron (which has partnered with the UK Biobank and other biobanks), AstraZeneca, Novo Nordisk, and Roche will each contribute $20 million over an initial 5 years.
About $30 million of the funding will be set aside for efforts to increase the number of black scientists within the United States and in Africa (e.g., through research grants, fellowships, and graduate programs in the field of genomics).
The project will be led by the recently formed Diaspora Human Genomics Institute (DHGI), a new institute at Meharry, a “mission to improve the quality of the human condition and its environment with a particular focus on persons of African ancestry.”
The partner organizations—the U.S. Historically Black Colleges and Universities (HBCUs) and African universities—will have exclusive access to the sequencing data. The DHGI and investigators will be free to create new collaborations with other institutions that are interested in accessing the data.
While the data will be deidentified, participants could choose to find out about any medical information that may have an immediate impact.
The DHGI will consult with local black communities on research directions and rely on an ethics advisory committee that includes black community leaders, an ethicist from Africa, a faith leader, and other experts.
James Hildreth, president and CEO of Meharry, says the drive behind the project is black communities and researchers “having a seat at the table.”
“Mount Sinai researchers find more than 4,700 gene clusters crucial for prognosis in 32 cancer types” (Mount Sinai)
Researchers at the Mount Sinai Center for Transformative Disease Modeling have released a study identifying 4,749 key gene clusters, termed “prognostic modules,” that significantly influence the progression of 32 different types of cancer.
The team used a “multi-omics” approach, incorporating genomic, transcriptomic, and epigenomic data in their analysis. They employed advanced systems biology approaches to analyze more than 10,000 patient samples from The Cancer Genome Atlas (TCGA), one of the most comprehensive public cancer databases.
The study has identified critical genes and their complex relationships that either halt or promote cancer progression. This new understanding opens the door for research and development of future treatments and diagnostics for cancers.
The research was published in Genome Research.
“Multi-ancestry study reveals 187 new genetic risk factors for prostate cancer” (News Medical)
The incidence of prostate cancer, the most common non-skin cancer in males, varies across populations, with the highest in Africans, and its risk is highly influenced by genetics.
The study performed a GWAS meta-analysis of prostate cancer in people of multiple ancestry groups. The study included 122,188 European, 10,809 East Asian, 19,391 African, and 3,931 Hispanic prostate cancer cases.
The team identified 451 risk variants, including 187 novel variants, with genome-wide significance. Of these, five (African), 19 (European), and three (Asian) risk variants were population-specific, with minor allele frequency of less than 1% in other populations.
The resulting genetic risk scores were associated with a greater risk of aggressive disease in men of African ancestry.
The study was published in Nature Genetics.
“Multi-ancestry meta-analysis and fine-mapping in Alzheimer’s disease” (Molecular Psychiatry)
This study — featuring statistics from European, East Asian, African American, and Caribbean Hispanic populations — performed the largest multi-ancestry GWAS meta-analysis of Alzheimer’s disease and related dementias.
Two novel disease-associated loci were identified.
In addition to highlighting genetic risk factors that are shared across populations, some loci seemed to differ in frequency and effect size depending on ancestry.
Some identified alleles were most common among individuals of East Asian ancestry and showed the strongest effects in this population.
“Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape” (Nature Communications)
The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood.
This multi-ancestry and admixed multivariate GWAS on 3D cranial vault shape extracted from magnetic resonance images of 6772 children yielded 30 genome-wide significant loci.
The study provides an overview of the genetics underlying normal-range cranial vault shape and its relevance for understanding modern human craniofacial diversity and the etiology of congenital malformations.
“Familial hypercholesterolaemia identified through genetic testing” (Health Europe)
Familial hypercholesterolaemia is an inherited condition that affects around 1 in 250 people. It often shows no signs until the patient has a heart attack. Individuals with familial hypercholesterolaemia cannot lower bad cholesterol levels by dietary or behavioural changes.
Research from Intermountain Health (Salt Lake City) has found that genetic testing can identify patients with familial hypercholesterolaemia.
The results come from the HerediGene: Population Study, one of the world’s largest DNA mapping initiatives.
Stacey Knight, PhD, cardiovascular and genetic epidemiologist at Intermountain Health, said: “Our findings show that we should be genetic testing people who have unexplained high cholesterol, so we can aggressively treat it and cut down their risk of having a major heart event.”
The research was presented at the American Heart Association’s Scientific Sessions 2023.
“Polygenic risk score, environmental tobacco smoke, and risk of lung adenocarcinoma in never-smoking women in Taiwan” (JAMA Network Open)
This study estimated the variations in risk of lung cancer among never-smoking women in different environmental conditions (i.e., passive smoking).
More on genetic studies:
“In progressive supranuclear palsy, risk loci converge on oligodendrocytes” (Alzforum)
“Let’s stop paying Beijing to steal our gene code” (The Daily Signal)
“Gene variant my advance ALS onset by about 3 years: study” (ALS New Today)
“By scoring a huge number of gene combinations, it has become possible to predict with high probability an individual's ‘genetic future,’ including income after adulthood and the likelihood of going to prison” (nifty, Japan)
News on somatic gene therapies:
“UK authorises gene therapy for blood disorders in world first” (Reuters)
“New gene editing treatment cuts dangerous cholesterol in small study” (New York Times)
Further Reading
“A brief history of evolutionary psychology: From Darwin to 2023” (Psychology Today)
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.