Personalized Medicine Moves Closer to Reality

The promise of the human genome is becoming more and more of a reality.

From an abstract concept to the delivery of personalized medical solutions has taken an astonishingly short amount of time. But one of the most instructive aspects of this advance is how it illustrates the importance of knowledge management and interpretation.

Computerization and globalized collaboration have revolutionized research and human understanding in a wide variety of fields. From counter-terrorism to dietary guidance, scientists, business people, athletes, government officials and others have been able to identify causes and effects previously shrouded in mystery - or misunderstanding.

One of the greatest obstacles, however, has been in figuring out how to make sense of all the data and narrative information suddenly available. Suffice it to say that not all interpretations are created equal.

The advances in genomic research both inform decisions about the delivery of medical advice and treatment but also provide a template for how researchers and managers in other fields can gather, organize and effectively distribute a wealth of knowledge. While the wholesale distribution of this wisdom - and the assessment of its benefits - is in the nascent stages, the implication is that the interplay between the scientific method and its application in real time is also much closer than it has been previously. JL

Robert Hotz reports in the Wall Street Journal:

In a major step toward an era of personalized medicine, researchers reported Wednesday that they have sequenced the complete DNA material of more than 1,000 people from 14 population groups in Europe, Africa, East Asia and the Americas. The report from the $120 million 1000 Genomes Project involved 700 scientists from laboratories in the U.S., Canada, China, Japan, Nigeria and Kenya, among others. Their results, published in Nature, offer the closest look yet at the differences in humankind's biological instruction set, documenting how myriad rare mutations may underpin many diseases and set the people of one locale apart from another in ways that shape their health.

All told, the scientists identified 38 million variations in the chemical letters of DNA that make up each of the average person's 23,000 or so genes and the DNA regions that control them—about 98% of all the estimated human variation in the world.

"We are getting to the point where an individual genome sequence can be a useful part of diagnosis," said statistical geneticist Gilean McVean at Oxford University in England, who led the effort. "If there is a variation that is present in just one in 100 people, we have found it,"

The immense compendium of genetic code—a catalog of human variation equal to 16 million file cabinets of data, or 30,000 DVDs—is meant to serve as a standard reference against which doctors could one day compare a patient's genome profile, even during a routine checkup.

Far from complete, the data already are straining the computer capacity of most laboratories to store and analyze. Moreover, the researchers expect to add genetic data from 1,500 more people within a few months. Earlier this year, Amazon.com Inc. AMZN -0.01%volunteered to store the vast database in its cloud services, from which it could be freely accessed by anyone.

Generally, all humans share about 99% of the DNA code that shapes development, health, personality and other traits. But the common genetic variations that most people share account for only a fraction of the risk of inherited disease.

Genetic variation among people refers to the differences in the order of chemical units, known by the shorthand A, G, C, and T, which make up the three billion letters of DNA in the human genome. The differences can be as minute as a single character replaced by another, or can be sequences of characters that are out of order, missing, duplicated or inserted in the wrong place.

"The biggest question is trying to figure out how much of this variation is meaningful," said Aravinda Chakravarti, an expert in disease genomics at Johns Hopkins University in Baltimore who is part of the project. "Much of it may make very little difference."

Armed with the new information, scientists at Oxford in August pinpointed how just a single hereditary variation—no more than one letter of genetic code—can heighten the risk of multiple sclerosis for some people. The same variation also may explain why some drugs that are useful in treating various autoimmune conditions actually make MS patients worse.

"We were able to dig in and show unequivocally that there was only one variant driving it," said Dr. McVean.

The many rare mutations identified highlight the differences among people in various parts of the world or even different cities. "The stuff that is rare—present in one in 100 people—in the United Kingdom is different from the stuff at that frequency in Holland or Italy," Dr. McVean said.