The NHS is about to kick off a trial DNA test in Northeast England that reveals a person's risk of heart disease – the world's biggest killer. The integrated risk tool (IRT), which will involve about 1,000 patients, has been developed by Genomics, a biotech company spun out of the University of Oxford. The test looks for genetic markers in DNA from a blood or saliva swab and combines this with traditional risk factors like age and family history to assess risk of disease. If the new test were applied to everyone in Britain aged between 40 and 60 it could identify another 650,000 people at high risk of cardiovascular disease, the firm says. Treating those people would to avoid about 15,000 cases of disease over a decade and prevent nearly 2,000 deaths. The IRT could also be used for other conditions like breast, prostate and skin cancers, type 2 diabetes and bipolar disorder.
Various innovations in the field of genomics over the past few decades have given researchers hope that resolutions to long-lasting debates might finally be on the horizon. In particular, many have become optimistic about the prospects for disentangling the threads of "nature" and "nurture" -- that is, about determining the extent to which genes alone can explain differences within and between populations. But two recent studies are now calling some of the methods underlying those aspirations into question. A key breakthrough was the recent development of genome-wide association studies (GWAS, commonly pronounced "gee-wahs"). The genetics of simple traits can often be deduced from pedigrees, and people have been using that approach for millennia to selectively breed vegetables that taste better and cows that produce more milk.
Women with the faulty breast cancer gene BRCA have, on average, a 35 per cent risk of developing breast cancer, a new study claims. Researchers at Harvard studied the impact specific genetic variants have on breast cancer, coronary heart disease and colon cancer. It revealed that for women with either BRCA1 or BRCA2, the chance of getting diagnosed with breast cancer by the age of 75 ranges from 13 to 76 per cent. The study found the presence of either gene did increase the likelihood of developing breast cancer, but by how much varies considerably by individual. For women without this mutated gene, the average risk was 10 per cent, but ranges from 3.3 per cent to 29.6 per cent.
The genetic risk for autism exists in every person, scientists today revealed. As a result, the principal signs of autistic spectrum disorder (ASD) are seen in each individual - just to varying degrees. Those with the most severe symptoms are the proportion of the population officially diagnosed with ASD, the scientists from the University of Bristol, Harvard and MIT and Massachusetts General Hospital found. They set out to identifying if there is a genetic relationship between ASD and ASD-related traits in people not considered to have ASD. Their findings reveal the risk underlying ASD affects a range of behavioural and developmental traits in all people.
Human Genetics Polygenic risk scores (PRSs) aggregate genomic information to predict an individual's risk of developing diseases with a genetic basis. To determine links between PRSs and health. Wainberg et al. profiled the blood plasma of almost 5000 individuals and examined PRSs for 54 diseases. From this, they linked PRSs to 766 detectable traits, including those that affect proteins or metabolites or are clinically relevant. Because many of these relationships were known, this work confirms links between genotype and phenotype and provides a platform for future work. Unexpectedly, some healthy individuals with a PRS indicating high risk for disease had a blood profile similar to those from individuals with disease. This indicates that genetic information can help to separate disease risk factors from the consequences of a pathological condition and identify potential preventative interventions. Proc. Natl. Acad. Sci. U.S.A. 117 , 21813 (2020).