An international study has introduced a genetics-based breast cancer precision prevention service using polygenic risk scores and telemedicine solutions. Preliminary results show that this approach can identify women at high risk of breast cancer and provide personalized screening recommendations.
The American College of Medical Genetics and Genomics has released an updated minimum variant set of 100 CFTR gene variants for carrier screening, replacing the previous 23-variant list. The new recommendations apply to genetic testing to determine carrier status, not diagnosis or newborn screening.
Researchers used machine learning to build predictive models for nine common diseases based on genetic information and blood biomarkers. Blood biomarkers provided better prediction in nearly all cases, especially for near-term risk, suggesting direct links between some measures and the pre-symptomatic phase of disease.
Scientists have identified a genetic locus associated with voice pitch, found in the ABCC9 gene, which influences voice characteristics in both men and women. The study also reveals links between voice pitch and cardiovascular health, highlighting the complex relationship between vocal traits and human biology.
A new Northwestern University study finds that CT scans are more effective than genetics in predicting the risk of heart disease in middle-aged individuals. The study used data from over 3,200 adults and found that adding CT scan data to conventional risk factors improved the accuracy of risk prediction.
Researchers at the University of Otago have discovered a new area of coastal uplift in Rarangi, Marlborough, using laser mapping and kelp genetics. The study provides new insights into Aotearoa's landscapes and recent earthquake impacts.
A study published in Clinical Pharmacology & Therapeutics has identified six single nucleotide polymorphisms associated with opioid use disorder. The findings suggest that genetics play a role in the development of OUD, but environmental factors also contribute to its progression.
The American College of Medical Genetics and Genomics (ACMG) has published a statement addressing factors that contribute to bias in clinical genetic testing. The statement highlights three main areas: environmental, clinical, and technical biases, which affect health equity for individuals from historically marginalized populations.
A major international study published in Nature Genetics has provided new insights into the genetics of preterm birth and pregnancy length. The research reveals a mutually antagonistic effect between the woman's and unborn child's genes, favoring earlier labor for the mother's survival and extending pregnancy for the child's weight gain.
Research found increased trust in scientists during COVID-19 pandemic, with polarized attitudes emerging, influencing behavior and vaccine adoption. Those with initial positive views became even more positive, while those with negative views became more entrenched.
Dr. Alexander M. Holtz received the award for his published article on heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies. The study highlights primary cilia-dependent defects in Hedgehog signaling, shedding light on a previously unknown autosomal dominant condition.
Isabelle B. Cooperstein, a PhD candidate, receives the 2023 David L. Rimoin Inspiring Excellence Award for her work on rare disease diagnosis tools. Her research aims to create accessible diagnostic solutions using Human Phenotype Ontology and sequencing data.
The ACMG Foundation presented four Next Generation Fellowship Awards to Amélie Pinard, Mina Tabrizi, Herodes Guzman, and others. These awards recognize the support of Bionano Genomics and Sanofi and aim to advance medical genetics and genomics specialties.
Dr. Nara Sobreira has developed innovative tools like GeneMatcher and VariantMatcher to aid in rare disease diagnosis, earning her the 2023 Watson Genetic Medicine Innovation Award. She continues to work on expanding genome analysis accessibility through education and research initiatives.
The article explores the role of forensic genetics in solving crimes using DNA analysis, familial DNA searching, and genealogical research. Forensic genetic genealogy has been successfully used to generate investigative leads for unsolved cases, leading to increased solved case rates and development of new investigative tools.
A recent study published in eLife found that childhood body mass index has a minimal effect on anxiety symptoms, but conflicting evidence about its impact on depressive and ADHD symptoms. The researchers suggest that policies targeting social and environmental factors may be more beneficial for improving child mental health.
The American College of Medical Genetics and Genomics recommends that noninvasive prenatal screening (NIPS) become the standard screening option for all pregnant individuals. NIPS has been shown to have a high accuracy rate, with detection rates of 98.8% for Trisomy 21 and 99.6% for sex chromosome abnormalities.
The special issue highlights innovation across various stakeholders in newborn screening, including researchers, healthcare professionals, and families. Key findings include the development of novel technologies to screen, diagnose, and treat newborns, as well as long-term follow-up studies and NBS expansion.
Researchers have found that genetic differences within individual sperm cells can affect their swimming behavior, which has implications for fertility and birth defects. The study identified greater variability in velocity among mutated samples compared to normal ones.
ISB researchers found that the gut microbiome is responsible for variation in circulating blood metabolites across people. The study examined 930 blood metabolites and found that over 60% were associated with either host genetics or the gut microbiome.
A study published in PLOS Genetics found that genetic variants linked to systemic lupus erythematosus (SLE) may also provide protection against severe COVID-19 infection. The researchers identified TYK2, a gene involved in interferon production, as the key locus behind this protective effect.
Scientists at deCODE genetics have discovered rare, protective loss-of-function variants that point to potential drug targets for NAFLD. The study identified biomarkers of disease and disease progression, which can help develop non-invasive diagnostic tools.
Thousands of human genomics and genetics researchers, clinicians, and experts will attend the annual ASHG meeting in Los Angeles, presenting nearly 400 live presentations, over 2,500 published posters, and 200 exhibitors. The program features exciting sessions highlighting breakthroughs in research progress and emerging issues.
A University of California, Berkeley study found that aging and environment are more important than genetic variation in affecting gene expression. As individuals age, their gene expression profiles diverge, making genetics less useful in predicting which genes are ramped up or down.
A new study from Lund University reveals that the most common analytical method in population genetics is deeply flawed, leading to incorrect results and misconceptions about ethnicity and genetic relationships. The method has been used in hundreds of thousands of studies, including medical genetics and commercial ancestry tests.
Researchers analyzed genetic data from nearly 43,000 people with autism and identified a novel group of inherited genes of moderate effect. The study shows that these genes contribute to autism through inherited variants and are associated with other neurodevelopmental disorders.
The study found 600 million SNPs and indels in 150 thousand genomes, corresponding to 7% of the theoretical possible variants. This large dataset allowed scientists to separate regions tolerant to sequence diversity from those not, shedding light on human survival and procreation.
A study published in eLife suggests that combining broadly neutralizing antibodies (bNAbs) based on viral genetics can help prevent viral escape and rebound in HIV treatment. The researchers identified a combination of three bNAbs, PG9, PGT151, and VRC01, which reduces the chance of viral rebound to less than 1%.
A team of scientists has uncovered new information about Mendel's work, revealing that he began with practical objectives as a plant breeder before exploring underlying biological processes. This work laid the foundation for modern genetics and was only recognized 34 years after its publication.
The American College of Medical Genetics and Genomics has released an updated recommended minimum gene list for the reporting of secondary findings. The update adds five new genes, four associated with dilated cardiomyopathy predisposition and one with hereditary transthyretin amyloidosis, a cause of heart failure. The new list aims to...
A new study using UK Biobank analyzed population genetics across Europe, grouping individuals by their shared genome segments. The research provides insights into historical patterns of population size and genetic isolation in European regions.
A new genetic study published in Nature Genetics found that roughly one in five invasive breast cancers following ductal carcinoma in situ (DCIS) are genetically unrelated to the original DCIS. The findings provide a deeper understanding of DCIS biology and suggest that DCIS should be considered a risk factor for the development of inv...
A new study published in PLOS Genetics explores how genetics influenced an individual's quality of life during the COVID-19 pandemic. The research found that some people's genetic tendencies toward better wellbeing became more influential as the pandemic progressed, particularly due to social isolation.
A new study found that genetics and environmental influences both contribute to socioeconomic status's impact on the brain, with different effects on various brain regions. The research used the UK Biobank dataset to analyze nearly 24,000 individuals and identified specific brain regions related to socioeconomic status.
The 5th annual Mutational Scanning Symposium will take place in Toronto on June 13-14, bringing together experts to discuss key topics in personalized medicine and variant effects. Keynote addresses by Drs. Doug Fowler and Clare Turnbull highlight the importance of interpreting genetic variants for personalized treatment.
The American College of Medical Genetics and Genomics has released a new Clinical Practice Resource to guide the treatment of patients with hearing loss. The resource offers information on causes, presentations, and approaches to clinical evaluation and genetic testing.
A recent study by Cornell scientists explores the relationship between human genetics and gut microbiome functions, identifying correlations between genetic variations and microbiome-associated traits. The research, led by Ilana Brito, uses a novel computational approach to model the distribution of functions and species within the hum...
A recent study led by scientists at Albert Einstein College of Medicine suggests that some smokers have robust mechanisms to limit mutations, protecting them from lung cancer. The findings could help identify those with an increased risk for the disease and warrant close monitoring.
A large-scale genetic study has identified 287 genomic regions associated with schizophrenia and 120 specific genes linked to the disorder. These findings provide new insights into the biological processes underlying schizophrenia, offering potential avenues for novel therapies.
Researchers create detailed 'atlas' of fallopian tube cells to better understand fertility and disease. The study identifies 10 epithelial cell subtypes and reveals new insights into ovarian cancer origins.
The ACMG Foundation presented four Next Generation Fellowship Awards to outstanding individuals in medical genetics and genomics. Ibrahim Elsharkawi and Jessica Priestley received the awards for their dedication to biochemical genetics, with support from Bionano Genomics, Spark Therapeutics, Takeda, Sanofi-Genzyme, and Pfizer.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
A new study from the Healthy Nevada Project found associations between genetics, childhood trauma, and adult obesity. Participants with specific genetic traits and who experience childhood traumas are more likely to suffer from adult obesity. The study suggests that understanding the interplay between genes and environment can help pro...
The use of polygenic risk scores in pre-implantation genetic testing is unproven and can lead to discrimination and stigmatization. ESHG argues that there is no evidence PRSs can predict disease likelihood in unborn children, making their application premature.
A recent study published in Canine Medicine and Genetics reveals that most dog breeds are highly inbred, with an average inbreeding rate of 25% or sharing the same genetic material with a full sibling. This high level of inbreeding contributes to increased disease and healthcare costs throughout a breed's lifespan.
Researchers studied the usage of population terms in a 70-year publication history of the American Journal of Human Genetics, finding changes in word usage and associations between terms. The study suggests that structural racism, social trends, and changing views on social constructs may be linked to these changes.
Scientists at deCODE genetics analyzed levels of 4,719 proteins in plasma from 35,559 Icelanders, finding 18,084 associations between sequence variants and protein levels. The study integrated these findings with disease and trait associations, revealing novel connections.
A genome-wide screening technique reveals the interrelated activities of genes controlling pluripotency and apoptosis in human embryonic stem cells. The study provides new insights into cancer genetics and a novel approach for regenerative medicine research, enabling the systematic mapping of genetic networks involved in tissue formation.
Researchers from the University of Pennsylvania School of Nursing argue that conflating race and genetics leads to misdiagnoses and reinforces racist beliefs. The conflation is perpetuated in medical research, such as studies on neonatal abstinence syndrome, which can result in inequitable treatment according to race.
A recent study published in PaleoAmerica journal challenges the long-held theory that Native Americans originated from Japan. The research, led by Professor Richard Scott, analyzed genetics and skeletal biology of teeth samples from multiple continents, finding little connection between the Jomon people and Native Americans.
A study published in PLOS Genetics found that smoking-related DNA methylation patterns explain around 1/5 of the variation in body mass index between individuals. The study analyzed genomic sequence data from over 390,000 participants and found that genetics accounted for 50% of the variation in BMI.
A new analysis platform developed by Ohio State University scientists combines genetics and phytochemical data to improve the health benefits of apples. The platform has potential to reduce breeding time and enable data-driven assessments of how to boost apple nutrition.
Belgian researchers have developed an all-in-one test to identify healthy embryos for transfer, reducing the risk of passing de novo genetic diseases. The test uses long read sequencing and can detect copy number variants and single nucleotide variants in a single workflow.
International genetic research projects struggle with GDPR interpretation due to ambiguous rules on personal data, consent, and data transfer outside the EU/EEA. Measures to reduce these challenges are proposed, including a more genetics-sensitive approach with regulators.
A recent study found that a person's genetic risk for developing certain diseases decreases as they get older. The researchers analyzed genomic data from 500,000 people and discovered that genetic factors play a more significant role in disease development early in life.
A new study has identified 20 genetic regions linked to face shape in East Africans, highlighting the importance of diverse populations in understanding human facial features. The findings also reveal that shared genetic factors contribute to similarities across populations, while population-specific variants drive differences.
An international team reconstructed language families spanning over 10,000 years by combining genetics, linguistics, and musicology data. Grammar was found to reflect population history more closely than other cultural features, highlighting the importance of the grammatical factor in understanding human cultural evolution.
Flipon genetics proposes that evolution happens on a faster time scale than Darwin imagined, with rapid adaptations occurring in real-time within individuals. This is achieved through the simple sequence repeats of DNA, which can adopt alternative shapes and transmit adaptations to offspring.
The American College of Medical Genetics and Genomics (ACMG) has partnered with Elsevier to publish its official journal, Genetics in Medicine. The partnership aims to increase the journal's visibility and influence in medical genetics and genomics research.