Making new genetic diagnoses with old data:
Iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
Abstract Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new knowledge. Methods We tested this hypothesis in the United Kingdom–wide Deciphering Developmental Disorders study, where in 2014 we reported a […]
Should We Sequence the Genome of Every Newborn?
Yes, but only if we do it in targeted ways that are attentive to the needs of babies, families and health systems
In November 2019, Matt Hancock, the United Kingdom’s health secretary announced a plan to sequence the genome of every baby born in a National Health Service hospital, beginning with a pilot of 20,000 children. Hancock, called his plan a “genomic revolution,” promising that whole-genome sequencing and genomics would play a huge part in ensuring that every […]
Is Cloud Computing the Answer to Genomics’ Big Data Problem?
The success of the genomics industry has led to generation of huge amounts of sequence data. If put to good use, this information has the potential to revolutionize medicine, but the expense of the high-powered computers needed to achieve this is making full exploitation of the data difficult. Could cloud computing be the answer?
Over the last decade, genomics has become the backbone of drug discovery. It has allowed scientists to develop more targeted therapies, boosting the chances of successful clinical trials. In 2018 alone, over 40% of FDA-approved drugs had the capacity for being personalized to patients, largely based on genomics data. As the percentage has doubled over the past […]
Greater Diversity Is Needed in Human Genomic Data
Researchers must ensure that the inequality seen in most of today’s genomic studies and databases is corrected.
Since the Human Genome Project was completed, scientists around the world have worked tirelessly to populate the sequence and variant databases that have become the crown jewels of genomics research. These databases are now brimming with genomic information, but unfortunately, they are greatly biased towards individuals of European descent. For example, 70 percent of the […]
DNA-Based Data Is a Hot Commodity, and Pharma Is Buying
How pharma companies are forming partnerships and striking deals to tap into stores of data to identify new R&D targets and fill clinical trials.
As the pharmaceutical industry continues along the path to precision medicine, drug discovery efforts are just one aspect of the business that increasingly will be fueled by data. A flurry of deals, including GlaxoSmithKline’s $300-million, four-year investment in 23andMe, gives us a window into how pharma companies are forming partnerships and striking deals to tap into […]
Collection of genetic data leads to privacy concerns
The market for at-home DNA tests is booming. As the companies behind them amass more genetic data, privacy advocates have raised concerns that consumers lack much-needed protection
A DNA test can reveal surprising facts about us – certain genes make us more inclined to have dry earwax, for example, and others make us more likely to sneeze when we see a bright light. Some genes even result in people being more attractive targets for mosquitoes, so if you’ve ever felt personally singled out by the insect […]
How to Identify Almost Anyone in a Consumer Gene Database
New techniques that dig more deeply into genetic databases may soon make the anonymity of their customers’ DNA impossible to safeguard
Researchers are becoming so adept at mining information from genealogical, medical and police genetic databases that it is becoming difficult to protect anyone’s privacy—even those who have never submitted their DNA for analysis. In one of two separate studies published on October 11, researchers report that by testing the 1.28 million samples contained in a […]
MGeND: an integrated database for Japanese clinical and genomic information
Human Genome Variation volume 6, Article number: 53 (2019)
Abstract To promote the implementation of genomic medicine, we developed an integrated database, the Medical Genomics Japan Variant Database (MGeND). In its first release, MGeND provides data regarding genomic variations in Japanese individuals, collected by research groups in five disease fields. These variations consist of curated SNV/INDEL variants and susceptibility variants for diseases established by […]
Key Observations on GDPR
A period of sheer panic as companies realized the mountain they needed to climb towards compliance.
The General Data Protection Regulation (GDPR) came into effect on May 25, 2018, with its objectives being to reshape the relationship between organizations and individuals, reform the approach to how businesses handle personal data and to rehabilitate (sanction) organizations which fail to comply. The run-up to May 25, 2018, maybe neatly summarized as a period […]
Gene therapy coming of age: Opportunities and challenges to getting ahead | Mckinsey & Compamy
Amid breakthroughs in gene editing, the pharma industry must recalibrate its development and reimbursement model for therapies that go beyond the traditional approach to disease treatment.
The completion of the first draft of the human genome in 2001 was supposed to kick off an era of personalized medicine and curative gene therapies.1 Only in the past few years has that promise started to become reality: several RNA- and DNA-based therapies are now on market, and the first curative gene therapy, Luxturna, was approved […]
Genetic testing: Opportunities to unlock value in precision medicine | Mckinsey & Company
Winning diagnostics companies will integrate advanced analysis of genomic data with other data sets and electronic medical records, as well as effective reimbursement strategies.
With a growing repository of personalized data at the molecular level, molecular-diagnostics companies are uniquely positioned to unlock value. The global market for personalized medicine has grown rapidly since the inception of the Precision Medicine Initiative, announced by Barack Obama during his 2015 State of the Union address. Market research estimated the 2016 global market […]