Are there incidental findings in exomes that require immediate action?

Guidelines. High throughput sequencing generates an unprecedented amount of genetic data. Most exomes are generated in a specific context, i.e. the genetic data is screened for variations in specific candidate genes or screened for de novo mutations. However, these approaches only use a small fraction of the genetic data generated per individual. High-throughput sequencing may also reveal clues towards possibly relevant diseases, and there is an ongoing debate if and how incidental findings should be returned to individuals undergoing high-throughput sequencing. Now, a recent paper in the American Journal of Human Genetics uses a very stringent clinical approach to assess the frequency of medically actionable findings in exome data. The results are not what you would think, and there is an urgent need to fix the existing databases. Continue reading

Dealing with the genetic incidentaloma – the ACMG recommendations on incidental findings in clinical exome and genome sequencing

Clinical genome sequencing. While exome and genome sequencing is widely used as a research tool, these technologies are also routinely applied in a clinical setting. As with many other data-rich diagnostic tests in medicine, there is an ongoing question on how to deal with potentially relevant findings that turn up indicentally. Now the American College of Medical Genetics and Genomics (ACMG) has released their long-expected recommendations on data return of incidental findings in clinical exome and genome sequencing. Their recommendations provide an interesting basis for discussion on what to do with genetic findings that are found by chance. Continue reading

What would my exome tell about me – a birth announcement

La famiglia. As you might already know, our family expanded two weeks ago with the arrival with our newborn son. Mother and baby are well and happy. As with all other newborns in Germany, our son got a heel stick on his third day of life for newborn screening. When my parents visited the following weekend and the kids were in bed one evening, we eventually ended up talking about screening, genome, disease and the possibility to make predictions from your genetic data. Therefore, looking forwards on life from the perspective of a newborn, what could we learn from exome/genome data and do we want to know it? Continue reading