Autism risk assessment on children by quantification of male sperm mosaicism
Scientists from the University of California (USA) propose a method for assessing the risk of autism by quantification of male sperm mosaicism. De novo mutations arising on the paternal chromosome make the largest known contribution to autism risk, and correlate with paternal age at the time of conception but the potential impact of assessing parental gonadal mosaicism has not been considered.
Targeted screening effective in reducing prostate cancer deaths
A new study published in the journal PLOS Medicine shows that the number of prostate cancer deaths could be reduced by a sixth by simply introducing targeted screening, which is directed at detecting cases among men whose genes put them at higher risk of the disease. The study employs computer modelling to evaluate the potential risk-benefit ratio of routinely screening all adult males aged 55-69 years for prostate cancer by a simple blood test every four years, vs only those who have a higher risk.
Apple offers free genetic tests for its employees
Apple has invited its employees and their families to pass a free genetic test for hereditary diseases. The test is carried out in clinics of the AC Wellness medical network. The company management hopes that the test will let them help their employees to know about potential health problems and take measures to reduce the risk of their development.
The Genome Asia 100K Project provides new data for medical and population genetics
The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world’s population. Indian scientists launched the Genome Asia 100K project to solve this problem. They catalogued genetic variation, population structure, disease associations and founder effects for 1,739 individuals of 219 population groups and 64 countries across Asia.
National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
Several European countries are experimenting with the widespread introduction of NIPT (non-invasive prenatal testing) instead of standard prevalence screen. Netherlands nationwide study has also been conducted to introduce NIPT as a first-level test for all pregnant women. The experimental results indicate the high potential of this type of screening.