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Showing posts from February, 2010

Celiac disease – Genetic testing and clinical utility

Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. People who have celiac disease cannot tolerate gluten, a protein in wheat, rye, and barley. Gluten is found mainly in foods but may also be found in everyday products such as medicines, vitamins, and lip balms. When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villi—the tiny, fingerlike protrusions lining the small intestine. Villi normally allow nutrients from food to be absorbed through the walls of the small intestine into the bloodstream. Without healthy villi, a person becomes malnourished, no matter how much food one eats. Celiac disease is both a disease of malabsorption—meaning nutrients are not absorbed properly—and an abnormal immune reaction to gluten. Celiac disease is also known as celiac sprue, nontropical sprue, and gluten-sensitive enteropathy. Celiac disease is ge…

What’s wrong with GWAS?

A paper was published in JAMA a few days ago (Paynter et al, Association Between a Literature-Based Genetic Risk Score and Cardiovascular Events in Women) showing that a genetic score based on 101 CVD related SNPs was not effective as a screening tool. So what happened to the promise of GWAS? One or two SNPs are not enough but we were told that when we get to panels of 30, 40 or more then we would see something real and useful, apparently we are not, so is it over? Is the fate for GWAS that of the candidate gene studies where initial positives were generally shown to be chance?

Maybe not. But maybe this study is proving, just like with candidate gene studies, that it is naïve to think that “blind” association studies of genes with complex diseases will provide useful results – these are diseases where the causes are many-fold involving genetics, behaviour and environment, but where in general just the disease end-point and the genetics are actually measured.

The Paynter paper used a c…

Personal Genetics - Code of Practice

This blog is about personal genetics and disease prevention - the EUROGENE eTEN project was set up and funded by the EU to establish the infrastructure to deliver personal genetics services via practitioner or direct to consumer.

The aim of the blog will be to report on progress of the project and comment on relevant research / developments in related areas. One of the tasks of the project was a review of the European regulatory framework - this has been completed and will be summarised in a later blog (the full review has also been submitted for publication.

The main finding is the absence of formal regulations in place now and the probability that this unclear situation will not change for some time. Meanwhile personal genetics services roar ahead, with prices falling and genome coverage increasing. Our opinion is that we should follow and promote the Industry Code of Practice proposed by the UK Human Genetics Commission (HGC). This code was developed by academics, regulators, indu…