This week's Science features a collection of reviews of recent advances in genetics, as well as the promise and challenges facing the use of new technologies in human health. In a review article, two University of Washington investigators discuss how sequencing technologies have enabled the identification of thousands of genetic mutations, many of which have now been linked to human disease, and point to improvements in interpreting the such data for a better understanding of the consequences of such mutations.
Meanwhile, scientists from Newcastle University provide an overview of the latest efforts to unravel the genetics of mitochondrial diseases, highlighting the ethical and political challenges facing efforts to alter embryos to prevent the transmission of these conditions from parent to child. A group of US and UK researchers describes the difficulties in understanding the interplay of inherited genetics and spontaneous mutations in psychiatric disorders, particularly complex ones such as autism and schizophrenia. Lastly, two British scientists provide an overview of the latest research into somatic mutations and their role in cancer, focusing on its implications for understanding the disease's progression.
Also in Science, one of the journal's writers reports on the consumer genetics firm 23andMe, investigating the company's success in gathering individuals' genetic information and its efforts to translate these data into pharmaceutical successes.
Lastly, in an editorial, Baylor College of Medicine's Arthur Beaudet discusses advances in prenatal genetic screening, noting how these hold the potential to prevent a great number of single-gene disorders in children conceived via in vitro fertilization. He also stresses the importance of proceeding carefully as these technologies become more advanced and widely available given the ethical implications of their use.