dgmacarthur

Mark Henderson has a great piece in the Times exploring the impact of personal genomics on the practice of medicine. The basic theme should be familiar to anyone who has been following the emergence of the personal genomics industry: doctors are currently almost completely unprepared for the…

This BBC video is worth checking out - it's a nice visual display of the processes used by genome sequencing provider Complete Genomics to smash apart and resequence a human genome. I can't help but wonder if Complete built the blue-lit, monitor-lined hallway (screen shot below) purely for this…

Razib points me to a great plain-language article reviewing our current scientific understanding of human genetic variation. The major focus is on copy-number variants (CNVs) - genetic variants involving the insertion or deletion of large chunks of DNA, sometimes spanning over a million bases.…

Razib has crunched the numbers from the General Social Survey (a massive longitudinal study of societal trends) to explore the variables associated with response to this question: Some people say that genetic testing may cause trouble. Others think it is a wonderful medical advance. Based on what…

GenomeWeb News reports that genome sequencing company Complete Genomics is cutting costs in the lead-up to the commercial launch of its whole-genome sequencing service in June: In order to save its remaining cash, the company recently implemented "a variety of cost-saving measures," including "some…

There are a couple of things I didn't explain very well in my previous post about the strange case of the 13-year-old girl suing a sperm bank using product liability law, on the grounds that the sperm used to conceive her carried a genetic defect resulting in her mental retardation. First and…

New Scientist reports that a 13-year-old girl with Fragile X Syndrome - a severe genetic disorder - is suing the sperm bank that provided the sperm that led to her conception. Curiously, the legal issue hinges on "a product liability law more commonly associated with manufacturing defects, such as…

Attila Csordas has a post up at Partial Immortalization explaining how to use the application MitoWheel (which Csordas helped develop) to visualise data from the new Haplogroup Tree Mutation Mapper from 23andMe. This might be a fun way for genetic genealogy afficianados to spend a few minutes…

Jeffrey Perkel at Biotechnically Speaking has a great overview of a recent paper in Nature Methods (see also coverage at GenomeWeb). The study in question used second-generation sequencing (with the ABI SOLiD system) to peer inside a single cell isolated from a mouse embryo. By sequencing the…

OK, so this GenomeWeb Daily News article is approximately four centuries old in internet time (i.e. around a week), but it's worth going back and reading. I've previously argued at length that although personal genomics currently offers little in the way of useful, predictive health information,…

GenomeWeb Daily News points to a new funding opportunity from the US National Institutes of Health (NIH) for researchers interested in studying the link between genetic variants and variation in the expression levels of genes. This is an incredibly important area of research. Genome-wide…

So I'm trying this Twitter thing all the cool kids are talking about - seems like a handy way to share interesting genetics-related stuff that doesn't quite warrant a full blog post. If you are so inclined you can follow me here. That is all.  Subscribe to Genetic Future.

I noted yesterday that the annual earnings report of Icelandic biotech giant deCODE Genetics, one of the major players in modern human genetics, suggested that the company is veering steadily towards financial oblivion.  Today the company had a crucial earnings call - anyone interested in the…

Personalised medicine pioneers Helix Health have announced their intention to seize control of the assets of personal genomics company 23andMe. Helix Health founder Steve Murphy (left) laid out his takeover plans during a press conference this morning. "It's time to seize the moral high ground…

deCODE Genetics, the major Icelandic biotech company behind personal genomics outfit deCODEme, has just released its financial results for 2008. Things really aren't looking good: At December 31, 2008, the company had liquid funds available for operating activities, comprised of cash and cash…

Personal genomics company 23andMe has just launched an online community of "mommy bloggers" - a move I can only describe as sheer marketing genius. I'll give you a moment to let the vision sink in. Imagine a group of women hungry for information about the best way to ensure the future health and…

New Scientist has a fascinating piece in which reporters Peter Aldhous and Michael Reilly demonstrate - with a little cash, and more than a little effort - the possibility of obtaining large-scale genetic data from someone without their knowledge or permission. The reporters started with a glass…

Neuroscientists Sam Wang and Sandra Aamodt have a guest post on Olivia Judson's NY Times blog discussing the complex interplay between genes and environment in the determination of personality traits. A taste: So some of the effects that we call "genetic" (or "nature") are the indirect result of…

Pickrell, J., Coop, G., Novembre, J., Kudaravalli, S., Li, J., Absher, D., Srinivasan, B., Barsh, G., Myers, R., Feldman, M., & Pritchard, J. (2009). Signals of recent positive selection in a worldwide sample of human populations Genome Research DOI: 10.1101/gr.087577.108 I pointed yesterday to…

I'll hopefully have more time to write about this tomorrow, but for now I'll simply suggest that you go and read the free full text PDF of this advance online manuscript in Genome Research. This is the most important recent paper in the field of human evolutionary genetics - a thorough and careful…

To complete my 23andMe trifecta this morning, here's Steve Murphy frothing at the mouth about the company's recent antics: Why is it so vital that physicians, nurses and others in the healthcare field try to stay above the law? Because patients lose trust in the system. They begin to think that…

This casual aside on a recent post on personal genomics company 23andMe's corporate blog caught my eye: Mutations in several other genes have also been associated with Parkinson's disease, but these are extremely rare. Many have been found only in one or two families. While these mutations are so…

Drew Yates at ThinkGene has a delightfully cynical take on the personal genomics industry: I know 23andMe's game, it's the "break the mean with variance" game, and it's the same Silicon Valley game that's been played by internet media companies for the last decade. How to play: a network of…

Yesterday I pointed to an article by New Scientist editor Michael Le Page advocating routine carrier testing for severe disease genes in parents-to-be, followed by IVF and pre-implantation genetic screening of embryos for couples unfortunate enough to both be carrying mutations in the same gene. I…

A couple of weeks ago I pointed to an article by bioethicist Jacob Appel arguing that genetic screening for severe disease mutations should be mandatory for parents undergoing IVF, and that not doing so is tantamount to child abuse. Today the same theme is taken up by New Scientist biology editor…

John Hawks recounts a recent conversation about bioinformatics: I was talking with a scientist last week who is in charge of a massive dataset. He told me he had heard complaints from many of his biologist friends that today's students are trained to be computer scientists, not biologists. Why, he…

Nalls, M., Simon-Sanchez, J., Gibbs, J., Paisan-Ruiz, C., Bras, J., Tanaka, T., Matarin, M., Scholz, S., Weitz, C., Harris, T., Ferrucci, L., Hardy, J., & Singleton, A. (2009). Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics PLoS…

I just noticed that GeneTests, a voluntary listing of US and international laboratories offering in-house genetic tests, has released an updated version of their graph of commercially available tests: You can see immediately that as the number of tested diseases continues to climb, the number of…

Over at the 23andMe blog The Spittoon, company co-founder Linda Avey expands on her vision for a novel model of genomic research, in which personal genomics customers contribute their genetic and health data to fuel research into the inherited and environmental triggers for disease. This is a model…

I posted a while back on two duelling essays in Nature on the intensely controversial subject of whether scientists should be permitted to study group differences in cognition. Nature now has a series of correspondence on the topic in its latest issue. Firstly, there are rebuttals from the authors…