What do 10,000 people with autism, 50,000 people in some remote islands in the North Atlantic, and 1,000 healthy old folks in southern California have in common? They are on the front edge of one of the most exciting stories in science today, and their contributions will have a huge impact on our long-term understanding of biology and medicine.
The headlines from just the last couple weeks in genomics are jaw-dropping. Experiments are being announced almost every week which would have been unimaginable even a year ago when sequencing a whole genome cost around $10,000. Suddenly an individual’s entire genome, the complete 6 billion letter signature of DNA units in each human, can be had for $4,000 or less, in a few weeks. And that has enabled scientists and business people to dream some pretty big dreams, like these:
—BGI, formerly known as Beijing Genomics Institute and the world’s largest genomic organization, said last week it will sequence the entire human genomes of 10,000 people from 2,000 families who have at least two children with autism. The project, in collaboration with the patient advocacy group Autism Speaks, will look to unravel the complex interplay between genetics and environment that is thought to contribute to this developmental brain disorder.
—The Faroe Islands are a remote speck in the North Atlantic Ocean, where about 50,000 people live under a self-governance agreement with Denmark. The local ministry of health has exercised some of that self-governing authority by teaming up with DNA sequencing leader Illumina (NASDAQ: [[ticker:ILMN]]) to capture the genomes of all 50,000 people in the Faroe Islands. Only 100 people will get their genomes sequenced in the pilot phase of the project, but this experiment has big promise. Like Iceland, home of the well-known scientists at deCODE Genetics, the Faroe Islands are a place with a relatively homogenous population, good genealogy records, and medical records. This is the kind of place that can help scientists connect the ever-elusive dots between genetic abnormalities and various diseases.
—Mountain View, CA-based Complete Genomics (NASDAQ: [[ticker:GNOM]]) said earlier this month it will work with Scripps Health in San Diego to sequence 1,000 genomes of healthy people in their 80s and up, to look for the secrets to long, healthy life. The trial, known as the “Wellderly Study,” will include 1,000 people who are “well” without any major diseases or long-term health complications, and “elderly,” from the ages of 80 through 108.
The size of these experiments does matter. While having individual genomes like those from Craig Venter or Jim Watson are nice to have, their main use is as a reference for all that work mentioned above. By sequencing many, many genomes and looking carefully for the subtle differences in them that make everyone different, suddenly there’s potential to generate all sorts of new ideas about what causes various diseases.
Many of these ideas will go nowhere. But the opportunity to gain fundamental knowledge is enormous. Biologists today don’t really know what causes lots of society’s common diseases—autism, Alzheimer’s, rheumatoid arthritis, to name a few—where the complex symphony of genes and environment gets out of kilter. Once those genomes are stashed in databases, then scientists can start looking more seriously for patterns that will offer clues to what’s going wrong.
“We’re still really at such an early stage of sequencing,” says Alex Dickinson, a senior vice president at Illumina. “We have maybe 10,000 genomes or so sequenced right now. It’s statistically unlikely that we would have gotten profound data out of that. But as the number of people goes up, we’ll have an avalanche of information coming out. It’s driving a huge amount of activity in the industry.”
I know what quite a few biotech readers are thinking about now—haven’t I seen this movie before? Scientists sequenced the first human genome a decade ago, a couple scientists had their photo op on the White House lawn, and some overhyped biotech companies cashed in
