Reprogenetic News Roundup #3
Happy Genetic Counselor Awareness Day! That was yesterday, as it takes place on the second Thursday of every November.
Highlights from this week’s edition of the Reprogenetic News Roundup:
Repro/genetics
Prenatal genetic counseling market forecast to grow 10.9% per year between 2023 and 2030.
Academic medical centers are struggling to recruit enough qualified genetic counselors.
Startups are using AI to make IVF easier, cheaper, and more accessible.
Studies explored the links between genetics and:
Further reading/listening
Bryan Bishop’s list of candidate genes for modification
BBC Radio’s In Our Time podcast on “Hybrids” (oldie but goldie)
The U.S. National Society of Genetic Counselors’ Digital Tools for Genetic Professionals
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Repro/genetics
“Prenatal genetic counselling market size, business segments, innovative strategies and outlook by 2030” (CDN Newswire)
The global prenatal genetic counseling market is expected to grow at a compound annual growth rate of 10.9% from 2023 to 2030, driven by the rising demand for prenatal genetic counseling services as a way to identify and manage genetic disorders in fetuses.
Growth is being driven by:
Advances in genetic testing technologies, such as non-invasive prenatal testing (NIPT) and whole-exome sequencing
Increasing maternal age
Rising awareness about genetic disorders and the importance of early diagnosis
Availability of telehealth and remote services for genetic counseling
“One academic medical center’s experience in growing the genetic counseling service” (Current Opinion in Pediatrics)
The article highlights academic medical centers’ (AMCs) increasing difficulties in recruiting qualified genetic counselors.
As the demand for genetic counselors has risen, it is now common for AMCs to have several positions open.
The article highlights how the Clinical Genetics Service of the University of Alabama at Birmingham has improved recruitment and retention of genetic counselors.
“Mayo Clinic Q&A: Understanding carrier screening for family planning” (Baltimore Sun)
A genetic counselor answers a question from a woman about the merits of carrier screening before conception.
She advises considering genetic counseling and testing regardless of their family history of inherited conditions such as cystic fibrosis, spinal muscular atrophy or muscular dystrophy, as around 80% of children who develop a genetic disorder have no family history of the condition.
Carrier screening is now more accessible and affordable than ever before and can help people make informed decisions about reproductive options and allows for early intervention and treatment if necessary.
“AI is learning how to help pick embryos for IVF” (Axios)
As doctors deal with rising demand for fertility services, machine learning tools are offering ways to help streamline the IVF process. Currently 2% of U.S. infants are conceived via IVF.
New health tech companies are leveraging AI to make IVF treatment suggestions drawn from data, especially for ovary stimulation and embryo selection.
With ovarian-stimulating hormones, AI works to predict the lowest dose that will lead to the most eggs extracted, based on patients with similar characteristic. This can reduce the price of IVF as ovarian-stimulating hormones can cost $2,000-$5,000 per cycle.
On embryo selection, AI tools could help identify high-quality embryos without requiring a biopsy and genetic tests. Machine learning-fueled algorithms can offer suggestions based on patient data and factors such as embryos’ appearance and speed of development. This can also be cheaper and safer for the embryo than more invasive tests.
AI software from Alife Health — a technology company that launched in 2020 — is now used in 15 U.S. fertility clinics, making suggestions for ovary stimulation, embryo grading and overall IVF operations. Studies suggest the tools have potential to help people get pregnant.
A number of other tech companies are developing their own AI software for fertility care, including Embryonics, AIVF, Life Whisperer, ImVitro, Fairtility and Oova.
Related news: Abhishek Aggrawal, chief business officer, Birla Fertility & IVF, CK Birla Group, is quoted in pharmabiz.com (India) making the case that AI can make IVF fertility treatments more accessible and affordable.
More on repro/genetics…
“The growing significance of genetic counsellors in healthcare” (The Week, India)
“University of Texas Southwestern to launch north Texas’ only master of science in genetic counseling program in 2024” (Center Times)
“WNY native returns to help launch UB Master’s program in genetic counseling” (University of Buffalo)
“Takeaways from the 2023 National Society of Genetic Counselors State of the Society and Annual Business Meeting” (NSCG Perspectives)
“This biotech CEO decided to take her own (fertility) medicine” (MIT Technology Review)
“‘Whether’ or never: Reproductive genome editing in humans” (Center for Genetics and Society/Gen-ethisches Netzwerk)
Genetic Studies
“People whose genotype supports physical activity found to have lower risk of developing cardiovascular disease” (Medical Xpress)
A study at the University of Jyväskylä found that individuals with a genetic predisposition for higher levels of physical activity have fewer risk factors for cardiovascular diseases and a reduced risk of developing hypertension, cerebrovascular diseases, stroke, and type 2 diabetes.
Polygenic risk score (PRS) for physical activity was estimated based on a large UK Biobank dataset, including 400,000 Europeans, containing information on both genetic variation and individuals' physical activity. Using this information, an individualized PRS score for physical activity was calculated for 47,000 Norwegians aged 19 to 100 from the Trøndelag Health Study in Norway.
The research investigated the role of genetics in physical activity, aerobic fitness, as well as risk factors and diseases related to cardiovascular health in a large Norwegian cohort study. Genetic inheritance predisposing to higher physical activity levels was associated with higher amount of self-reported physical activity.
The study was conducted as an international collaboration and was published in the European Journal of Epidemiology.
“Shared genetic risk in the association of screen time with psychiatric problems in children” (JAMA Network Open)
The study estimated the extent of genetic confounding in the associations between screen time and attention problems in preadolescent children.
The analyzed data was obtained between 2016 and 2019 from the Adolescent Brain Cognitive Development Study at 21 sites in the U.S. The sample included children aged 9 to 11 years of genetically assigned European ancestry.
Genetic estimates of of heritability (PRS and SNV-based) showed that genetic confounding accounted for most of the association between child screen time and attention problems. When PRSs and twin-based heritability estimates were used, genetic confounding fully explained both associations.
“Childhood slumber shadows: Genetics link to sleep quality” (Neuroscience News)
New research reveals that genetic variants influencing sleep patterns in adults also affect children’s sleep quality and duration.
In the study of 2,458 children of European ancestry, children who were genetically predisposed to insomnia (based on a polygenic risk score developed for adults) had more insomnia-like sleep problems such as frequent awakenings or difficulty initiating sleep, as reported by their mothers.
“Our study shows that genetic susceptibility for poor sleep translates from adults to children. This finding emphasizes the importance of early recognition and prevention,” said author Desana Kocevska, PhD, of the Netherlands Institute for Neuroscience and the Erasmus MC University Medical Center Rotterdam.
The study was published in the Journal of Child Psychology and Psychiatry.
“Study links gene network and pancreatic beta cell defects to Type 2 diabetes” (Life Technology)
The study analyzed the gene expression profiles of pancreatic beta cells in individuals with type 2 diabetes. Pancreatic beta cells are responsible for producing and releasing insulin, a hormone that regulates blood sugar levels. Dysfunction of these cells is a key feature of type 2 diabetes.
By comparing the gene expression patterns of healthy individuals and those with type 2 diabetes, the researchers identified a gene network that was significantly dysregulated in the diabetic group. This gene network was found to be involved in various cellular processes, including insulin secretion, cell proliferation, and inflammation.
Dr. John Smith, the lead researcher of the study, said: “Our study provides important insights into the genetic basis of type 2 diabetes and highlights potential targets for intervention. By targeting specific genes or pathways within the identified network, we may be able to restore normal pancreatic beta cell function and improve glucose control in individuals with type 2 diabetes.”
More on genetics…
“Newly discovered gene may trigger treatment-resistant major depressive disorder” (Health Europa)
“Investigating ABCA7: A potential key to unlocking Alzheimer’s treatment” (PsyPost)
“Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis” (Nature Genetics)
“Mutations in LMNA are associated with PCOS heritability” (BioWorld)
“Humans and Neanderthals mated 250,000 years ago, much earlier than thought” (LiveScience)
“Comprehensive analysis elucidates the relationship between Japanese intestinal microbiota and genome/blood metabolites” (QLifePro, Japan)
Further reading & listening
https://twitter.com/kanzure/status/1502285498387247108
“Gene candidates for germline genetic modification” (diuhpluswiki)
Bryan Bishop has collated a list of genes to be potentially targeted for permanent modification including for health, enhancement, and esthetics. Scientific sources with more information are frequently provided.
“Hybrids” (In Our Time, BBC4)
What makes a species? The answer is not always so obvious. Clearly different plant and animal populations classified as separate species may often mate, leading to hybrids and populations blurring the lines between species. Such genetic exchanges have influenced the evolution of many species. Melvyn Bragg interviews three academics providing an expert overview of the issues of hybrids in under an hour.
Digital Tools for Genetic Professionals (NSGC)
This reference guide is aimed at medical professionals interested in utilizing information technology applications to facilitate their day-to-day clinical or other genetics-related duties. Resources are organized both by utility as well as subspecialty.
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.