Deriving genomic diagnoses without revealing patient genomes

Science

Although data-sharing is crucial for making the best use of genetic data in diagnosing disease, many individuals who might donate data are concerned about privacy. Jagadeesh et al. describe a solution that combines a protocol from modern cryptography with frequency-based clinical genetics used to diagnose causal disease mutations in patients with monogenic disorders. This framework correctly identified the causal gene in cases involving actual patients, while protecting more than 99% of individual participants' most private variants.


SAPVoice: How The 100,000 Genome Project Is Paving The Way For Personalized Medicine

Forbes - Tech

On December 10, 2012, then Prime Minister of UK – David Cameron, announced the government's commitment to sequence 100,000 human genomes by the end of 2017. Successful delivery of the 100,000 Genome Project would make the National Health Service the world's first healthcare system to launch a'genomics medicine service'. The 100,000 genomes project can be seen as a pilot, paving the way for a digital NHS using genomics as part of its routine service. Research opportunities and the mainstream use of genomic medicine are expected to make a major contribution towards economic growth in UK, and will firmly establish the UK as an international center for the industry. Genomics England, the organization responsible for the 100,000 genomes project, provide examples on their web site of how research and personalized medicine will bring vast improvements to clinical standards while driving down the cost of care through: preventative medicine, reducing waste, and identifying low value activities.


Attack on cancer: Japan's health ministry plans bid to analyze full genomes of 90,000 patients in three years

The Japan Times

The health ministry on Friday revealed a plan to attempt to decode the full genomes of around 90,000 cancer and other patients in about three years. Patients with deadly cancers will be the first subjects examined . The ministry hopes research on full genetic information, including DNA, will lead to discoveries on disease mechanisms, treatments and new drugs. Under the plan, about 64,000 cancer patients and some 28,000 others with intractable diseases will be subjects for the research. Analysis will also be conducted in advance for some 16,000 lung cancer and ovary cancer patients, and about 5,500 patients with such diseases as muscular dystrophy.


Now You Can Sequence Your Whole Genome for Just $200

WIRED

Here are a few things you can buy with $200: one bluetooth-controlled fire pit, 100 lab-grown Impossible White Castle sliders, access to the 6.4 billion base pairs that make up all the DNA coiled inside your cells. Starting today, Cambridge-based Veritas Genetics will be lowering its $999 whole genome sequencing and interpretation service for just $199 for two days, or to the first 1,000 people who buy spit kits. Why the dramatic price drop, which Veritas is taking at a loss? CEO Mirza Cifric says that it's more than just a holiday-season gimmick. "We're sending a clear signal to the medical research community that the $99 genome will be here in three to five years," he says.


World Cup fans didn't trigger Zika outbreak in Brazil, study says

PBS NewsHour

New genomic analysis clears 2014 sports enthusiasts of unwittingly transporting the virus into Brazil. Soccer spectators can breathe a sigh of relief: Travelers to the 2014 World Cup in Brazil were not responsible for introducing the Zika virus to the Americas after all. New genomic analysis of a small number of Brazilian Zika patients puts a better clock on the travel history of the mosquito-borne virus and suggests that it landed in the Americas at least a year earlier than previously thought--as early as spring 2013. That timeline throws cold water on the two prevailing theories of how the virus traveled from Asia to the Americas. In addition to debunking the World Cup theory, the revised timing suggests that travelers coming to cheer on the Va'a World Sprints canoe event in Brazil--held in August 2014--also were not the first carriers of the virus to the Americas.