Osteoporosis 
(Image source: www.soylabs.com) 
An extensive genome-wide search has been undertaken to find the genes linked to osteoporosis and fracture. Five regions of interest have been identified that appear to warrant further scientific investigation.
The Garvan Institute for Medical Research collaborated with the Icelandic genetics company, deCode, in a project that looked at 1500 women from Garvan’s Dubbo Osteoporosis Epidemiology Study as well as more than 12,000 women from Iceland and Denmark.
The collaborative study examined more than 300,000 such markers and found 12 that were linked to bone mineral density and 6 linked to fragility fractures. Some of these SNPs are close to genes …read more

In this fourth in the series of articles originating from G&H’s exlusive interview with Navigenics’ Medical Director Dr Michael Nierenberg, we look at the whole issue of low penetrance versus high penetrance gene testing. 
SNPs are known as ‘low penetrance genes’ where it will only sometimes produce the symptom or trait with which it has been associated at a detectable level. In this case of low penetrance it is difficult to distinguish environmental from genetic factors.   
Whereas ‘high penetrance genes’ such as the breast cancer genes BRCA 1 and 2 are those where the trait will almost always be shown by the individual …read more

In this third article originating from G&H’s exclusive interview with Navigenics’ Medical Director, Dr Michael Nierenberg, we explore the whole issue of SNP testing and how SNPs can be used in disease risk assessment.
Navigenics has focused on around 100 of the most definitive research papers on SNPs (single nucleotide polymorphisms) that have been most strongly associated with 18 particular diseases such as breast cancer, type II diabetes, cardiovascular disease.  The company has built an algorithm (mathematical computer program) that estimates the risk of a healthy person developing a disease if their genome has the relevant SNP. 
The company has spent immense time …read more

This second article originating from G&H’s exclusive interview with Navigenics’ Medical Director Dr Michael Nierenberg takes a look at the service you will receive if you subscribe to Navigenics’ genomic wellness service.
The Navigenics service 
When you sign up to the Navigenics service you effectively enrol as a member and not as a patient or customer.   For US$2,500 you subscribe to an annual package which includes a genomic scan to identify your lifetime risk (compared to an average American male or female) of developing 18 core, treatable diseases such as heart disease, Alzheimer’s and type II diabetes.  Included in the package is on-line …read more

A research team comprising scientists from MD Anderson, Johns Hopkins University and the Insitutute for Cancer Research and the University of Cambridge, UK have identified two inherited genetic variations (SNPs) on chromosome 15 associated with increased risk of lung cancer for smokers and former smokers. Individuals who have ever smoked and who have one or two copies of either of these SNPs have increased risks ranging from 28% to 81% of developing lung cancer.
The findings are a major step forward in identifying those at high risk for non-small cell lung cancer and for understanding how smoking and …read more

As readers of Genetics and Health know, I am vocal in my support of providing patients with a wealth of education, information and advice before, during and after they undergo a genetic test.
With this in mind, Navigenics is a company I have had my eye on for some-while.  The company offers a comprehensive SNP based genetic risk assessment screen but has placed great emphasis on the ‘preventative health, wellness and ongoing support’ aspect for its customers and members.
Navigenics kindly agreed to be interviewed on all aspects of the company’s service, its philosophy and also provided comment on the various ethical and scientific debates that are currently raging around the whole subject of …read more

 
Papers published in Nature and Science this week support the previously held theory that humans originated in East Africa, migrating outward until they reached all parts of the globe. But the genetic work from these studies brings a new level of precision to human migration studies, with each group finding subtle and intriguing details that shed light on different aspects of human genetic variation and ancestry.
Study 1 – University of Michigan:This study was based on the analysis of more than 500,000 SNPs and nearly 400 copy number variants — sections of DNA that are repeated or duplicated in the genome — for 485 individuals. These samples, …read more