Reprogenetic News Roundup #2
The following tree summarizes the contents of this newsletter, more detailed summaries and more stories are available further below.
Health policy
Genetics
Association studies: adult-onset obesity, blood lipid in Greenlanders, ADHD, hypertension, osteoporosis (forearm fractures), diverse ancestries of Mexican Biobank
Polygenic risk scores: to improve cancer screening, to determine personalized screening ages for colorectal cancer
Media debates: The New Yorker on gene editing, The Week on pros and cons of genetic modification
Books: Rand Europe’s study Machine Learning and gene editing at the helm of societal evolution
Repro/genetics News
“North Carolina fertility practice introduces AI powered embryo selection” (CISION)
North Carolina’s Reach Fertility has added Caremaps-AI® as part of their service for all IVF patients.
Reach has partnered with CARE Fertility, a pioneering fertility group based in the UK, gaining access to advanced reproductive technology.
Selecting the embryo with the greatest potential is a critical element in IVF treatment. Caremaps-AI® leverages time-lapse imaging techniques to assist embryologists. This removes human subjectivity from embryo assessment, enabling embryologists to select the embryo with the highest chance of becoming a healthy baby.
“Genetic testing market to be worth $28.24 billion by 2030” (Digital Journal)
A new study by Meticulous Research® finds that the genetic testing market is expected to grow at a Compound Annual Growth Rate (CAGR) of 10.4% from 2023 to reach $28.24 billion by 2030.
The results were published in the report Genetic Testing Market, which breaks the market down by offering (consumables, reagents, instruments, services), test type (diagnostic, prenatal, carrier, newborn, preimplantation), method (molecular, chromosomal) and end user (hospitals, diagnostic laboratories).
Market growth is mainly driven by government initiatives promoting genetic testing, the increasing prevalence of genetic disorders, a growing need for early detection and prevention of diseases, increasing applications of genetic testing in oncology, and decreasing costs of sequencing procedures.
High cost of testing in low-income countries, the social and ethical implications of genetic testing, and security and privacy concerns are restraining growth.
Direct-to-consumer genetic testing and the emerging field of genetic counseling are expected to create growth opportunities.
Regarding test type, in 2023, the prenatal testing segment is expected to account for the largest share. This is attributed to the growing prevalence of chronic and hereditary diseases, the rising demand for early disease diagnosis, and the need for genetic tests to make treatment decisions.
In 2023, North America is expected to account for the largest share of the genetic testing market, followed by Europe and Asia-Pacific.
North America’s major market share is attributed to the high adoption of diagnostic testing, high investments in R&D, and government support and investments to enhance genome sequencing infrastructure.
The key players profiled in this market study are Illumina, Inc. (U.S.), Thermo Fisher Scientific Inc. (U.S.), F. Hoffmann-La Roche Ltd. (Switzerland), OPKO Health Inc. (U.S.), Natera, Inc. (U.S.), PerkinElmer, Inc. (U.S.), Myriad Genetics, Inc. (U.S.), Centogene N.V. (Germany), Konica Minolta, Inc. (Japan), Fulgent Genetics, Inc. (U.S.), and Laboratory Corporation of America Holdings (U.S.).
You can download a free sample of the report.
“Public-private effort leverages WGS to speed diagnosis of rare genetic development disorders” (genomeweb)
The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain) announced the launch of a proof-of-concept study to improve the diagnosis of rare genetic developmental disorders through whole-genome sequencing (WGS).
WGS will be provided to infants ages 3-12 months with early symptoms of rare neurodevelopmental disorders, as well as genetic counseling and specialist referral to their families.
The study’s goals are to speed diagnosis of these rare disorders, generate evidence on the benefits of genetic testing for patients and their families, and build capacity at local level for implementing genetic testing programs.
Rare disorders usually have long diagnostic journeys, lasting an average of 30 months from the time a parent identifies a concern.
“Early diagnosis not only creates opportunities for improved care at the individual level, but will help us understand how these rare conditions present very early on, which is critical for the development of innovative patient-centered approaches to treatment,” said Natasha Ludwig, director of the Developmental Neuropsychology Phenotyping Unit at Kennedy Krieger Institute.
All pathogenic diagnoses will be reported back to families and their healthcare providers where they may directly impact care.
UAE: “The Department of Health - Abu Dhabi launches first of its kind, nationwide Clinical Genomic Medicine and Genetic Counselling Programme” (CISION)
The Abu Dhabi Department of Health has announced the launch of a Clinical Genomic Medicine and Genetic Counseling Program for 100 Emirati physicians.
The first-of-its-kind program was launched in collaboration with top U.S. medical institutions and reflects Abu Dhabi’s efforts to improve access to personalized care through genomics.
The training is a core component of the National Genome Strategy leveraging data from the Emirati Genome Program (EGP) — the world’s largest genomics program.
The program will provide education on diagnosis and treatment of cancer, metabolic disorders, system-based illnesses, and newborn and population screening.
The EGP is among the most extensive population genomic initiatives, with over 400,000 genetic samples collected so far, with a national target of 1 million.
Emiratis of all ages are encouraged to join this transformative initiative by providing a blood sample (or an inner cheek swab for children) at one of the 143 designated sample collection centres available throughout the UAE.
“A better way for doctors and health plans to manage genetic tests” (STAT)
There are now 175,000 genetic tests on the clinical market and 10 new tests are introduced every day — not counting direct-to-consumer tests.
Few clinicians have the training or education necessary to evaluate the necessity, accuracy, and worth of all tests, let alone to incorporate the results into practice.
Testing is the highest-volume medical activity in the U.S. more than 14 billion tests performed each year.
Genetic tests comprise 10% of all lab tests and has been growing rapidly. Use in November 2022 was up 15% from November 2021.
To improve knowledge and use of genetic tests, the author recommends more precise procedural codes, evidence-based policies, and automated/expedited claim review.
The author predicts that genetic tests will become part of routine wellness exams and more people will want access to the information to guide personalized care.
“Preimplantation polygenic risk score testing is unvalidated and unregulated” (Health Affairs)
Academics Eli Adashi, Daniel O’Mahony, and Glenn Cohen argue that preimplantation polygenic risk scores (also known as preimplantation genetic testing for polygenic disorders or PGT-P) should not be encouraged due to current shortcomings of the tests.
The authors concede PGT-P may be used to anticipate possible pathologies.
The American College of Medical Genetics and Genomics (ACMG) issued a policy statement in March arguing that PGT-P is not yet appropriate for clinical use or direct-to-consumer testing. The ACMG will publish two additional documents on “ethical, social, and legal considerations associated with PRS testing for embryos.”
The authors argue for FDA oversight on PGT-P’s safety and efficacy. A bipartisan congressional bill mandating the FDA to regulate in vitro clinical technologies (IVCTs), the proposed Verifying Accurate, Leading-edge, IVCT Development (VALID) Act.
More on reprogenetic technologies:
“The transformative, alarming power of gene editing,” (The New Yorker)
“The pros and cons of human genetic modification” (The Week)
Genetic Studies
“Exome-Wide Association Study Reveals Rare Variants Linked to Severe Adult-Onset Obesity” (genomeweb)
Rare protein-truncating variants in the BSN gene are associated with severe adult-onset obesity, according to new data presented by researchers from the University of Cambridge.
The study highlights the utility of population-scale exome-wide association studies to detect rare genetic variants underpinning common human diseases.
“As we all know, obesity has become a global epidemic,” said lead author Yajie Zhao. “So, there is an urgent need for us to know the etiology of obesity.”
In general, obesity can be grouped into monogenic obesity (caused by mutations impacting a single gene) and polygenic obesity (involving many gene variants each exerting a modest effect).
Previously, researchers have mostly identified mutations involved in severe, early-onset monogenic obesity.
The study carried analysis of 420,000 individuals of European ancestry from the UK Biobank and replicated the results for 167,000 individuals of non-European ancestry from the Mexico City Prospective Study and the Pakistan Genomic Resource Study.
Rare protein-truncating variants (PTVs) were shown to have substantially higher effects on BMI compared to well-established obesity genes such as MC4R.
The PTVs identified had no apparent effect on childhood obesity.
Carriers of certain PTVs had a higher risk of type 2 diabetes and nonalcoholic fatty liver disease.
The study is available as a MedRxiv preprint.
“Blood lipid GWAS points to trait-related loci, architecture in Greenlanders” (genomeweb)
A University of Copenhagen-led team has identified genetic loci linked to blood lipid levels in Greenlanders, including genetic variants that overlapped with, and were distinct from, those described in other populations.
A GWAS of nearly 4,500 Greenlanders searched for variants with ties to blood lipid traits. As disturbance of lipid homeostasis is a major risk factor for cardiovascular disease (CVD), these genetic variants can help identify risk of CVD, the leading cause of death worldwide.
The researchers also considered genetic associations that appeared to be specific to Greenlanders relative to European populations. A relatively small set of common variants with outsized effects may influence circulating blood lipid levels in Greenlanders, compared to a broader set of low-effect variants accounting for predicted trait variance in Europeans.
The authors wrote that the findings “revealed a unique genetic architecture of lipid traits among Greenlanders, where few variants explained a large amount of the trait variance.”
The results were reported in the European Journal of Human Genetics.
“Polygenic ‘scores’ may improve cancer screening” (Vanderbuilt University)
Accounting for genetic variability in biomarkers not associated with cancer risk could avoid unnecessary diagnostic procedures, according to a study published in eBioMedicine.
Researchers determined polygenic risk scores (PRSs) of 3,110 me, identifying more than 100 genetic variations that affect blood levels of prostate-specific antigen (PSA) but which are not associated with prostate cancer.
High levels of PSA are otherwise often associated with prostate cancer, leading men to be referred for prostate biopsies.
The researchers conclude that oncorporating PRSs that account for measurable benign genetic variability could improve the accuracy of cancer screening markers and avoid escalations in clinical care that lead to more risks than benefits.
“New genes linked to ADHD identified potentially paving the way for new treatments” (University of Surrey)
Scientists identified several genes related to ADHD.
Dr Matt Parker, Senior Lecturer in Neuroscience and Sleep Science at the University of Surrey, “The high degree of heritability of externalising disorders, such as ADHD, has intensified the search to identify genes which cause such behaviours, which we hope will help develop targeted treatment options to alleviate their symptoms. It is important we do this as not only will it help individuals better manage their condition, but it may also help improve their life chances — for example an estimated 26% of prison inmates have ADHD.”
Scientists used zebrafish in the study as they share 70% of genes with humans and 84% of these genes are known to be associated with human disease. Using a behavioural task which tracks the ability and willingness of the fish to “wait” for a reward, scientists found zebrafish with the ADGRL3 gene-edited out had higher levels of inattention and demonstrated greater impulsivity. These characteristics were more prominent in male zebrafish lacking ADGRL3 compared to female peers.
Treatment with atomoxetine, a medication used to treat ADHD, completely reversed the impulsivity.
Several other genes were also identified as contributing to ADHD and other disorders.
Dr Parker said: “Identification of such genes is potentially the first step in the development of new targeted medications to help patients better manage their symptoms.”
This study was published in the journal Translational Psychiatry.
“Researchers demonstrate how genetics plays a role in the development of hypertension” (Medical Xpress)
Researchers at the University of Alabama at Birmingham reviewed UK Biobank data of more than 486,000 individuals to assess the role of genetics in the sex differences in hypertension.
Hypertension or high blood pressure affects about half the U.S. population and is the strongest risk factor for the development of cardiovascular diseases (CVDs) such as coronary heart disease, heart failure, and stroke. Management of hypertension is associated with annual health care spending of nearly $200 billion.
Predicting the development of hypertension may help establish preventive strategies.
Hypertension is known to be more prevalent in men than women but the reasons for this difference are not completely understood. The researchers conducted sex-specific GWASs for systolic blood pressure (SBP), enabling determination of genetic variants by sex.
The resulting polygenic risk scores (PRSs) were more predictive for women: women with a high PRS had a higher risk of hypertension compared with males with a high PRS, and females with a low PRS had a lower risk of hypertension than males with a low PRS. PRS was also more predictive in women prior to menopause.
Lead author Pankaj Arora said: “For years, we have been aware of gender disparities in cardiovascular disease. Studies like these highlight a biological foundation for comprehending these differences. Such efforts will help in the development of precision medicine approaches to treating hypertension to reduce the gender disparities in the burden of cardiovascular disease.”
The results were published in Circulation: Genomic and Precision Medicine.
“An atlas of genetic determinants of forearm fracture” (Nature Genetics)
Osteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive.
Forearm fractures are the most common clinically recognized osteoporotic fractures with a relatively high heritability.
To establish an atlas of the genetic determinants of forearm fractures, the study performed genome-wide association analyses including 100,026 forearm fracture cases. 43 relevant genetic loci were identified, involved in factors like bone mineral density and bone quality.
Tall stature and low body mass index were also identified as new causal risk factors for fractures.
The insights from this atlas may improve fracture prediction and enable therapeutic development to prevent fractures.
“Personalized initial screening age for colorectal cancers in individuals at risk (JAMA Network Open)
This study using UK Biobank data of over 240,000 individuals used sex and polygenic risk scores (PRSs) to determine personalized initial screening ages for colorectal cancer adapted to the estimated risk of each person.
“Mexican Biobank advances population and medical genomics of diverse ancestries” (Nature)
Latin America continues to be severely underrepresented in genomics research.
The Mexican Biobank project genotyped 6,057 individuals from 898 rural and urban localities across all 32 states in Mexico with linked complex trait and disease information creating a valuable nationwide genotype–phenotype database.
The study inferred ancestral population sizes across Mesoamerican regions over time, unravelling Indigenous, colonial, and postcolonial demographic dynamics.
Variation in homozygosity (possession of 2 identical alleles for particular genes) and distributions of rare deleterious variants were observed by ancestry.
The study provides insights into the genetic histories of individuals in Mexico and dissects their complex trait architectures, both crucial for making precision and preventive medicine initiatives accessible worldwide.
More on genetics:
“Canada invests $15M in first-of-its-kind pan-Canadian genome library” (Science|Business)
“Causal associations between female reproductive behaviors and psychiatric disorders: a lifecourse Mendelian randomization study” (BMC Psychiatry)
“Ability of artificial intelligence to identify self-reported race in chest x-ray using pixel intensity counts” (Journal of Medical Imaging)
Books
Sana Zakaria et al, Machine Learning and gene editing at the helm of societal evolution (RAND Europe)
This 112-page study looks at the history, state of play, and future of AI and gene-editing technologies, as well as their policy implications.
Areas at the confluence of AI and gene editing include genome engineering, predictive genome-phenome, and protein folding/modeling. Together these may unlock greater predictive power, understanding of molecular models and systems, amplified scale and increased speed of biotechnologies, data-driven insights, and improved genetic targeting.
The report includes striking visuals and tables highlighting findings.
Other life science news
“Scientists recreate face of ape species that lived about 12 million years ago and ‘may be crucial to understanding human evolution’” (Daily Mail)
“US launches new controls to guard against AI being used to create biothreats” (Science|Business)
Disclaimer: The Genetic Choice Project makes every effort to include only reputable and relevant news, studies, and analysis on reprogenetic technologies. We cannot fact-check the linked-to stories and studies, nor do the views expressed necessarily reflect those of the Genetic Choice Project.