Category: Genetics

New retinal examination can predict a heart attack

Vienna, Austria: 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 […]

Rapid whole genome sequencing improves diagnosis in critically ill infants on a national scale

Vienna, Austria: 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 sequencing1 (WGS), carried out rapidly, can provide an accurate diagnosis and therefore lead to improvements in their clinical […]

Incidental findings in genomics: how does their utility balance with their psychological effect on patients?

Vienna, Austria: As the cost of genome and exome1 sequencing falls, its use in characterising rare diseases and personalising 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 […]

Thalidomide is an effective treatment for abnormal blood vessel formations

Vienna, Austria: The same properties that caused birth defects when it was given to pregnant women, the inhibition of blood vessel formation (anti-angiogenesis), have led to an interest in thalidomide’s therapeutic utility in other fields. At the annual conference of the European Society for Human Genetics on Sunday, Professor Miikka Vikkula, from the de Duve […]

Personalised testing for safety and effectiveness of common medicines must be offered throughout the NHS

Testing patients for genetic variations that affect how their body will respond to common medicines must be integrated fully, fairly and swiftly into the NHS, according to a report published by the British Pharmacological Society and the Royal College of Physicians. The report – Personalised prescribing: using pharmacogenomics to improve patient outcomes – explains how […]

The use of polygenic risk scores in pre-implantation genetic testing is unproven and unethical, says ESHG

Some private fertility clinics have begun to sell polygenic risk scores1 (PRSs) analyses on embryos to prospective parents. This practice raises many concerns, representatives from the European Society of Human Genetics told a media briefing in London. In a paper published in the European Journal of Human Genetics*, they say that there is no evidence […]

Simple, cheap urine test can detect urothelial cancers in Lynch Syndrome patients

Researchers have shown for the first time that it is possible to detect signs of urothelial cancer using a simple, postal, urine test in Lynch Syndrome (LS) patients who are at high risk of developing tumours. The findings, presented at the NCRI Festival[1], offer the potential to develop a cheap, easy and non-invasive way of […]

Researchers develop all-in-one test for the avoidance of de novo genetic disease in embryos

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 […]

Identification of the genetic causes of childhood epilepsy shows the way to improved treatment and care

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 […]

Genetic data privacy, the GDPR, and research needs: a delicate balance

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 […]