“THE $100 GENOME” A BREAKTHROUGH FOR PERSONALIZED MEDICINE

The idea of personalized medicine—custom-tailoring a person’s medical treatment to suit their unique genetic profile—has made a leap forward with the debut of the $100 genome.

Sequencing the three billion characters that make up a person’s genes has cost thousands of dollars in the past. Not long ago, the cost was slashed to $500.

Now, several companies say they can accomplish the feat for a flat hundred bucks.

With your genome in hand, a doctor can spot genetic predispositions to particular conditions so you can take precautions to reduce the risk. Physicians could determine which cancer treatment is likely to be most effective for you while producing the fewest side effects.

For years, genomic sequencing has been done using machines from a company called Illumina.

Now Illumina’s patent is about to expire, allowing other companies to adapt the technology in a competitive market.

At a conference earlier this month, the start-up Ultima Genomics reported that it can offer genomic sequencing for $100. 

The company has tweaked Illumina’s process with “clever engineering [that] avoids a lot of complex plumbing,” molecular biologist Mark Akeson at the University of California at Santa Clara, told Science.

With researchers from MIT and Harvard University, Ultima’s scientists tested their technology to sequence 224 human genomes that had already been read. The result: Ultima’s technique was as accurate as the previous work, company executives said.

Other tests showed the company’s technology can identify which genes an individual cell is expressing and reveal the impact of epigenetics— external forces that change gene expression on cells.

“The less expensive [sequencing] gets, the more accessible this kind of research is to more labs and more people,” Florence Chardon, a graduate student working with the Nobel-winning CRISPR gene editor, said to Science.

The $100 price tag is achieved by running several genomes at once, which could invite errors; in fact, some independent investigators say they found flaws in some of the Ultima technology’s readings.

However, Singular Genomics is offering a tabletop sequencer that doesn’t rely on high throughput to cut costs.

MGI, a Chinese firm, plans to sell its sequencing machines in the U.S. this summer, making cheap genome readings more widely available. Element Bioscience also is promising bargain-price genome readings.

TRENDPOST: The $100 genome could make a person’s unique genetic profile a part of almost everyone’s medical file, a step forward in making personalized medicine an everyday reality that will make effective treatments faster and easier.

Ultimately, that will lead to a healthier population and make health care cheaper. 

However, genetic profiles would need to be stored with the utmost security, especially in an age when artificial intelligence is breaking down databases’ security firewalls.

In addition, ethical issues that we haven’t needed to imagine before now will rise up and need to be addressed.