disease genetics
dgmacarthur | March 13, 2009I 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 testing laboratories has plateaued - at least partly the result of more efficient testing methods, and of specialised "boutique" testing labs being swallowed up or out-competed by larger players.
As of today, GeneTests lists 606 laboratories testing for 1,705 diseases; 1,419 of the tests are "clinical…
dgmacarthur | March 6, 2009Nejentsev et al. (2009). Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes. Science DOI: 10.1126/science.1167728
The first item on my long list of predictions for 2009 was that this will be the year of rare variants for common disease - the year that we really start tracking down the low-frequency genetic variants (between 0.1 and 5% in frequency) that likely contribute substantially to the risk of common diseases like arthritis and diabetes. It's far too early for me to claim vindication for this prediction, but a paper published online today…
dgmacarthur | March 5, 2009Jones et al. (2009). Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene. Science DOI: 10.1126/science.1171202
A paper published online today in Science illustrates both the potential and the challenges of using large-scale DNA sequencing to identify rare genetic variants underlying disease risk.
Traditionally, geneticists have pinned down such variants using large family studies. By using these families to track which parts of the genome tend to be co-inherited with the disease, it's possible to zoom in on the region of DNA that harbours the disease-causing mutation…
dgmacarthur | February 15, 2009Steve Murphy is up in arms about a recent email from 23andMe to its customers advertising the use of genetic variants on its V2 chip to predict individual risk of statin-induced myopathy and breast cancer.
Of course, Steve does have a strong financial interest in 23andMe staying as far away as possible from the area of clinical diagnostics, but I share his unease here.
So far personal genomics companies have by and large done their best to steer clear of being seen as "doing medicine", but this move would seem to put 23andMe explicitly over that line. In the case of the breast cancer…
dgmacarthur | January 13, 2009Following the dramatic appearance of the field of personal genomics just over a year ago the major players in the field have worked hard to distinguish themselves from their competition: 23andMe has emphasised the intellectual joy of learning about genetics, and also attempted to actively engage its customers in the company's research projects; deCODEme has leaned heavily on the impressive academic credentials of its parent company, deCODE Genetics; Navigenics has committed itself utterly to an image of sober, responsible reflection on the medical information present in its customers' genomes…
dgmacarthur | December 11, 2008An article in the latest issue of the New England Journal of Medicine takes a look at the sharing of genetic risk factors between type 1 diabetes and celiac disease, two reasonably common auto-immune disorders (affecting ~0.4 and ~0.1%, respectively, of individuals of northern European origin).
Celiac disease is more common in type 1 diabetes than in the general population, so there's some reason to expect some shared genetic risk factors between the two disease. And indeed in this study the degree of overlap in risk genes between the two diseases is striking - out of 25 genes with a well-…
dgmacarthur | November 20, 2008At Gene Expression, p-ter points to two studies in this week's New England Journal of Medicine examining the predictive value of known genetic markers for type 2 diabetes.
Both studies find the additional predictive power of the genetic markers beyond traditional predictors (like age, sex, family history, body-mass index, fasting glucose levels, systolic blood pressure, high-density lipoprotein cholesterol levels, and serum triglyceride levels) to be extremely small, to the point of complete clinical insignificance. Thus while massive genome-wide association studies for T2D have been…
sb admin | September 2, 2008Welcome to the new look Genetic Future, now hosted on ScienceBlogs.
In around five years, a complete genome sequence will be readily affordable for most citizens of wealthy industrialised nations - even those of us on a researcher's salary. At the same time we will have access to vast amounts of data about the effects of individual genetic variants on human variation and disease risk. Storing, processing and using genetic data to make effective health decisions will become an immense challenge both to healthcare providers and to individual consumers.
The revolution has already begun: right…