23andMe, a genetic testing startup that captured the national imagination a decade ago, appears to have fully emerged from the wilderness. The Food and Drug Administration has cleared the startup to market $199 genetic tests that will tell consumers not whether they have a condition like Parkinson’s or Alzheimer’s, but how likely they might be to […]Read more "23andMe Rides Again: FDA Clears Genetic Tests To Predict Disease Risk"
We’ve entered a new phase in the history of whole genome sequencing (WGS). Consider that researchers at University of Toronto just launched a massive project to sequence the whole genomes of 10,000 people per year. This is truly astounding when you recall that it took 13 years and $3 billion to sequence the first human […]Read more "The genomics intelligence revolution"
It was when my future wife came to visit me in America for the first time that I learned she detested whiskey, or more specifically Scotch whisky, the most popular spiritous liquor of her native Portugal. After some questioning, I suggested she try some Kentucky bourbon. Liking it, she declared, “But this isn’t whisky!” Some […]Read more "Do you Like Whiskey? Maybe It’s Your Genes"
There was no shortage of excitement (some might call it hype) about genomics and personalised healthcare in 2016, but for the vast majority of patients, the benefits of genomics remained tantalizingly out of reach. I have been wondering whether there are reasons to be more optimistic for 2017? Could this be the year that ‘patient […]Read more "Will 2017 be the year when genomic medicine becomes business as usual?"
Next generation sequencing (NGS), often referred to as massively parallel sequencing or deep sequencing, refers to a DNA sequencing technology that enables sequencing of millions of small DNA fragments in unison. This generates a massive pool of data and NGS has revolutionized genomic research studies. The data created can reach gigabytes in size (the equivalent […]Read more "History of Next Generation Sequencing"
Personalised medicine has become the “holy grail” of modern medical research and has been embraced by policy makers and healthcare providers as a route to more satisfied patients, more effective and efficient health services, potentially even reducing demand through more effective prediction and prevention of disease. But what do today’s health professionals make of this, […]Read more "Hilary Burton: Get on board with genomics—a call to all clinicians"
It may be true that we have entered the age of personal genomics, we are scratching the surface. Hundreds of thousands of patients have now received genetic testing over the past 2 decades through health care providers — usually targeting specific genes or gene panels linked to rare hereditary conditions. And over 2 million people […]Read more "Genome Sequencing for Healthy People: Is it Time?"
Update: I got my results. For the second part of the review, please click here This Spring, European personal genetics company Dante Labs launched new direct-to-consumer certified DNA tests. The Dante Labs tests are based on Next Generation Sequencing (NGS), which is superior to the micro-array technology used by some American direct to consumer ventures, […]Read more "DanteLabs review"
A toddler with a rare disorder is the first patient to benefit from a new ‘gene machine’ system in Sheffield, which provides a faster diagnosis for rare and inherited diseases. Jae Machin, aged two, was diagnosed with a Glycogen Storage Disease (GSD) after his blood was tested using the new next generation sequencers at Sheffield […]Read more "Gene machine helps diagnose rare liver disease"
DNA day is celebrated on April 25, 2017. DNA Day commemorates the day in 1953 when James Watson, Francis Crick, Maurice Wilkins, Rosalind Franklin and colleagues published papers in the journal Nature on the structure of DNA. It celebrates the discovery and understanding of DNA and the scientific advances that understanding has made possible. In […]Read more "2017 International DNA day"