https://phys.org/ en-us Latest news from European Society of Human Genetics Pharmacogenomics studies how individuals respond to drugs based on their genetic code. Using that knowledge to guide prescribing in routine care could lead to better outcomes for patients and save money for health systems. https://medicalxpress.com/news/2025-05-pharmacogenomic-routine-clinical.html Genetics Tue, 27 May 2025 15:28:04 EDT news667578481 Neuropathy, a disorder in which damage to nerves can impair sensation and movement, has many causes, including infection. Now, researchers from the UK have identified distinct genetic changes in a newly-discovered neuropathy and believe that their work will provide insights into the causal mechanism and why some previously healthy people develop neuropathies after infection whereas others do not. https://medicalxpress.com/news/2025-05-genetic-reveal-severe-neuropathy-infection.html Genetics Sun, 25 May 2025 18:10:04 EDT news667204861 A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research presented to the annual conference of the European Society of Human Genetics. https://medicalxpress.com/news/2025-05-blood-enables-rapid-diagnosis-thousands.html Genetics Sun, 25 May 2025 18:10:02 EDT news667204501 Children born before 37 weeks of gestation have a considerably increased risk of dying before they reach the age of five. Predicting the risk of preterm birth (PTB) and hence implementing preventive strategies is complicated by the heterogeneity of the condition, the many unknown mechanisms involved, and the lack of reliable predictive tools. https://medicalxpress.com/news/2025-05-early-preterm-birth-cell-free.html Genetics Sat, 24 May 2025 18:10:01 EDT news667204381 A case in which a sperm donor was later found to be carrying a cancer-causing pathogenic variant in his gametes has highlighted the problems of regulating gamete donation at the European and international level. https://medicalxpress.com/news/2025-05-experts-urge-tighter-sperm-donation.html Genetics Fri, 23 May 2025 18:10:01 EDT news667204261 Disturbed sleep is very common in almost all neuropsychiatric and neurodevelopmental conditions (NDPCs), such as autism, attention deficit and hyperactivity disorder, schizophrenia, and bipolar disorder. https://medicalxpress.com/news/2024-06-genetic-links-neuropsychiatric-conditions-treatments.html Genetics Tue, 04 Jun 2024 13:19:04 EDT news636725942 While influenza infection is a significant public health threat, causing serious illness in between three and five million people worldwide per year and leading to about up to 650,000 deaths, the effectiveness of influenza vaccines varies considerably between individuals depending on vaccine types and individual circumstances. A person's ability to resist infection (host immunity) plays an important role in this. https://medicalxpress.com/news/2024-06-biomarkers-enable-personalized-influenza-vaccination.html Genetics Mon, 03 Jun 2024 12:26:04 EDT news636636361 Aneuploidy (the presence of an abnormal number of chromosomes) in embryos is a major cause of impaired embryo development, leading to conditions such as Down syndrome, as well as to pregnancy loss. The transfer of such embryos in women undergoing IVF is therefore usually avoided because of unfavorable pregnancy outcomes. But mosaic embryos, comprising both genetically normal and abnormal cells, can result in perfectly normal babies. https://medicalxpress.com/news/2024-06-abnormal-embryos-women-chance-ivf.html Genetics Mon, 03 Jun 2024 12:25:04 EDT news636636301 Differences in socioeconomic status (SES) are known to be linked to differences in the risk of developing disease. While people with lower SES are more likely to develop complex diseases such as diabetes and cardiovascular disease, those with a higher SES are at increased risk of developing certain types of cancer. https://medicalxpress.com/news/2024-05-socioeconomic-status-genetic-complex-diseases.html Genetics Sat, 01 Jun 2024 18:10:01 EDT news636377462 Cancer is the leading cause of disease-related death in children in most developed countries, and at least a quarter of these patients are diagnosed with aggressive high-risk or relapsed cancers, with an expected five-year survival rate of less than 30%. Accurate diagnosis can be difficult, and survivors often suffer life-long side effects because of the toxic treatments needed to cure them. https://medicalxpress.com/news/2024-05-molecular-profiling-diagnosis-survival-children.html Oncology & Cancer Fri, 31 May 2024 18:10:01 EDT news636364381 Polygenic risk scores (PRSs) are estimates of an individual's susceptibility to a specific complex trait obtained by aggregating the effects of dozens, thousands, and potentially millions of genetic variants associated with that specific trait into a single figure. Some private companies now market PRS embryo screening to prospective parents through the use of in vitro fertilization and pre-implantation genetic testing. https://medicalxpress.com/news/2024-05-polygenic-scores-inaccurate-highly-inconsistent.html Genetics Fri, 31 May 2024 18:00:01 EDT news636364547 The informed consent process in biomedical research is biased towards people who can meet with clinical study staff during the working day. For those who have the availability to have a consent conversation, the time burden can be off-putting. https://medicalxpress.com/news/2023-06-automation-consent-genomics-yields-wider.html Medical research Mon, 12 Jun 2023 19:00:01 EDT news605805530 Rates of colorectal cancer are high despite widespread adoption of screening programs in many high-income European countries. Such programs tend to use a one-size-fits-all approach where most people are screened starting from the same age, and no individual factors are considered in organized population screening. Now, based on one of the largest genomics studies on the topic to date, researchers from Finland have outlined how common genetic factors could be used to identify individuals at high risk of developing the disease and hence improve current colorectal screening strategies. https://medicalxpress.com/news/2023-06-polygenic-scores-colorectal-cancer-screening.html Genetics Sun, 11 Jun 2023 19:00:02 EDT news605519373 Xeroderma pigmentosum (XP) is a rare and devastating genetic disorder characterized by an inability to repair skin damage caused by ultraviolet (UV) light. As a result, patients with XP develop skin cancers, usually in childhood. Once diagnosed, they can be protected by avoiding sunlight (hence sometimes being called "children of the night"), wearing special clothing and sunglasses, and using sunscreen. https://medicalxpress.com/news/2023-06-early-treatment-brain-degeneration-children.html Genetics Sun, 11 Jun 2023 19:00:01 EDT news605518714 Genetic counseling is essential when dealing with individuals who are affected by, or at risk of, inherited disease. Although it is known to be useful in helping patients cope with test results and deal with uncertainty, there have been very few randomized controlled trials (RCTs) of its effectiveness. Dr. Andrada Ciuca, a post-doctoral researcher at Babes-Bolyai University, Cluj-Napoca, Romania, will tell the annual conference today (Sunday 11 June) that the results of the first RCT of genetic counseling in familial colorectal cancer (fCRC) show that it provided significant improvements in patients' feelings of empowerment, as well as other states of mind such as depression and emotional distress. https://medicalxpress.com/news/2023-06-genetic-familial-colorectal-cancer-significant.html Oncology & Cancer Sat, 10 Jun 2023 19:00:01 EDT news605518668 Identifying people at high risk of chronic disease means that they can be targeted with prevention measures before they become sick. Polygenic risk scores, where genomic information alone is used to assess the risk of developing diseases, have been receiving a lot of attention recently, but research presented at the annual conference of the European Society of Human Genetics (Saturday 10 June) suggests that combining blood biomarkers with genomic information gives more accurate, cost-effective results. https://medicalxpress.com/news/2023-06-blood-biomarkers-genomics-shown-common.html Genetics Fri, 09 Jun 2023 19:00:01 EDT news605518654 Inherited retinal diseases (IRDs), single-gene disorders affecting the retina, are very difficult to diagnose since they are uncommon and involve changes in one of many candidate genes. Outside specialist centers, there are few experts who have adequate knowledge of these diseases, and this makes it difficult for patients to access proper testing and diagnosis. But now, researchers from the UK and Germany have used artificial intelligence (AI) to develop a system that they believe will enable more widespread provision of testing, together with improved efficiency. https://medicalxpress.com/news/2023-06-ai-eye-scans-diagnosis-inherited.html Genetics Fri, 09 Jun 2023 19:00:01 EDT news605518635 Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. But whole genome sequencing (WGS), carried out rapidly, can provide an accurate diagnosis and therefore lead to improvements in their clinical care. Results from an Australian study of such a use of WGS presented to the annual conference of the European Society of Human Genetics on June 12 show how the integration of genomic, transcriptomic, and functional data can accelerate rare disease diagnosis on a national scale. https://medicalxpress.com/news/2022-06-rapid-genome-sequencing-diagnosis-critically.html Genetics Mon, 13 Jun 2022 12:32:56 EDT news574342373 Combining information about the pattern of blood vessels in the retina with genetic data can enable accurate prediction of an individual's risk of coronary artery disease (CAD) and its potentially fatal outcome, myocardial infarction (MI), commonly known as a heart attack. The discovery could lead to a simple screening process where an MI risk could be calculated when a person undergoes a routine eye test, researchers will tell the annual conference of the European Society of Human Genetics today (Monday). https://medicalxpress.com/news/2022-06-retinal-heart.html Cardiology Mon, 13 Jun 2022 11:18:03 EDT news574337879 As the cost of genome and exome sequencing falls, its use in characterizing rare diseases and personalizing cancer treatment, for example, is becoming far more frequent. But such analyses may throw up findings unrelated to the condition for which it has been requested. What to do with these secondary findings (SFs) or incidental findings (IFs) is problematic. Should they be reported to the patient and in what circumstances? How should clinical geneticists deal with the perhaps unnecessary worry that they may cause? https://medicalxpress.com/news/2022-06-exploring-deep-link-cancer-genetics.html Oncology & Cancer Fri, 10 Jun 2022 18:00:01 EDT news574080102 De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have. Where a disease-causing DNV is present in one parent, the risk of passing it to a child can be as high as 50% and being able to identify healthy embryos for transfer to avoid an affected pregnancy is clearly a high priority. To achieve this goal, identification of the group of genes inherited from one parent (the haplotype) that is linked with the mutation is necessary to transfer only healthy embryos. Until now this has been a difficult process and can often involve multiple embryo biopsies, which in themselves carry a risk. But a group of Belgian researchers have developed a new, one-stop method using DNA from the parents of the affected prospective parent (the embryo's/child's grandparents). They will present their findings to the annual conference of the European Society of Human Genetics today. https://medicalxpress.com/news/2021-08-all-in-one-de-novo-genetic-disease.html Genetics Tue, 31 Aug 2021 03:21:59 EDT news549598913 Epilepsy is one of the most common chronic neurological diseases, affecting more than 50 million people worldwide. Although it is believed that a large proportion of childhood-onset epilepsies are caused by genetic changes, it remains unknown precisely how many of these patients suffer from a genetic disorder and how often the treatment can be targeted to their specific genetic alteration. Now, results from research to be presented at the annual conference of the European Society of Human Genetics today have shown a genetic cause for their condition among half of those studied. This will not only aid in the prescription of appropriate, tailored, treatments, but also preclude the use of unnecessary diagnostic procedures, say the investigators. https://medicalxpress.com/news/2021-08-identification-genetic-childhood-epilepsy-treatment.html Genetics Tue, 31 Aug 2021 03:20:56 EDT news549598840 The EU's General Data Protection Regulation (GDPR) has created a great deal of uncertainty about how key requirements should be interpreted. This means that collaborators in international genetic research projects do not always agree on fundamental issues such as whether they are processing personal data, consent requirements under the GDPR and on what basis genetic data can be transferred outside the EU/EEA, if at all. These results from a study carried out by Colin Mitchell, Senior Policy Analyst in Law, Regulation and Digital Health, and colleagues from the PHG Foundation, University of Cambridge, UK will be presented to the annual conference of the European Society of Human Genetics today. https://medicalxpress.com/news/2021-08-genetic-privacy-gdpr-delicate.html Genetics Mon, 30 Aug 2021 02:10:44 EDT news549508238 How strictly patients follow a prescribed drug treatment (drug adherence) is clearly important if the therapy is to have maximum effect. A number of things can affect adherence, including behavioural and socioeconomic factors, but to date there have been few investigations into the role played by genetics. Now, research to be presented at the annual conference of the European Society of Human Genetics today has thrown new light on the potential biological mechanisms that can affect adherence to treatment. https://medicalxpress.com/news/2021-08-genetic-lack-adherence-medication-aid.html Genetics Mon, 30 Aug 2021 02:09:18 EDT news549508153 Although epilepsy is a relatively common condition, affecting approximately 1% of individuals worldwide, it is often difficult to diagnose in clinical practice, and it is estimated that up to a quarter of all cases may be misdiagnosed initially. Epilepsy is often inherited, and recent research has shown that sufferers have elevated polygenic risk scores (PRSs) for the condition. Now, investigators from Finland have proposed that PRSs could be used as a tool to help diagnose epilepsy in those individuals who have had a single seizure and distinguish them from those where the seizure has another cause. The results will be presented at the annual conference of the European Society of Human Genetics today. https://medicalxpress.com/news/2021-08-genetic-scores-aid-accurate-diagnosis.html Genetics Sun, 29 Aug 2021 03:32:34 EDT news549426749 The underlying cause of sudden cardiac death (SCD) in a young person is often difficult to identify. A genetic analysis could provide more information in many cases, but blood samples are not collected routinely at the time of death, and DNA extracted from the tissues collected at autopsy is damaged because of the way they are fixed in formalin and paraffin-embedded. But finding the cause is vital if relatives who may carry the same genetic variant as the victim are to be screened. Now, for the first time, researchers in Sweden have been able to carry out molecular autopsies for SCD nationwide, using dried blood spots (DBS) collected up to 40 years ago as part of the routine screening of newborn babies. Their findings will be presented at the annual conference of the European Society of Human Genetics today. https://medicalxpress.com/news/2021-08-dried-blood-newborn-screening-sudden.html Cardiology Sat, 28 Aug 2021 04:20:30 EDT news549343225 The compulsory collection of DNA being undertaken in some parts of the world is not just unethical, but risks affecting people's willingness to donate biological samples and thus contribute to the advancement of medical knowledge and the development of new treatments, says a paper published in the European Journal of Human Genetics. https://medicalxpress.com/news/2021-01-coercive-dna-unethical-future-medical.html Medical research Mon, 18 Jan 2021 09:46:09 EST news530185559 Osteoporosis affects more than 200 million people worldwide and demographic change means that these numbers are continuing to increase. Osteoporosis- related fractures have a significant effect on the quality of life of older people and also on the cost of healthcare provision. Now, a group of genetic researchers from The Netherlands, the US, and Norway, have shown the way to predicting not only which patients are likely to have fractures but also make an approximation of when. This could make an important contribution to improving the health of older people, they say. https://medicalxpress.com/news/2020-06-genetic-score-fractures-elderly-people.html Genetics Tue, 09 Jun 2020 06:16:27 EDT news510902183 Genome-wide association studies (GWAS) analyse a genome-wide set of genetic variants in different individuals to see if any are associated with a trait or disease. Such studies are getting larger and larger and, in some cases, millions of participants are involved. This means that researchers can see smaller and smaller effects increasing the number of genes they can link to a disease or trait. https://medicalxpress.com/news/2020-06-sex-differences-large-scale-genetic-affect.html Genetics Mon, 08 Jun 2020 03:41:37 EDT news510806493 The increasing popularity of direct to consumer (DTC) genetic testing is having an impact on clinical genetics services, according to Australian researchers who will present their work to the 53rd annual conference of the European Society of Human Genetics, being held entirely on-line due to the COVID-19 pandemic, today [Saturday]. Many consumers are unsure about what to do with the results they receive, and many general practitioners are ill-equipped to advise them, meaning that they turn to clinical genetics services for help. https://medicalxpress.com/news/2020-06-dtc-results-imposes-major-burden.html Genetics Sat, 06 Jun 2020 04:21:52 EDT news510636107