This past week, the FDA approved marketing of four diagnostic devices from Illumina (a manufacturer of DNA sequencing machines) for “next generation sequencing” (NGS) — meaning the devices can now quickly and cheaply read and interpret large segments of the genome (the set of genetic information in your body) in a single test. The idea is that if you have your entire genomic information in your electronic medical record you would be providing your physician with needed information to determine the course of treatment immediately without waiting. A physician could even be using genomic information to identify the right drug at the right dose for each patient and determine the course of treatment.
Two of the devices are the Illumina MiSeqDx instrument platform and the Illumina Universal Kit reagents. The MiSeqDx is the first FDA regulated kit that allows laboratories to develop and validate sequencing of any part of a patient’s genome. The Universal Kit reagents isolate and create copies of genes of interest obtained from patient blood samples, afterwards the MiSeqDx platform analyzes the genes. The software compares the patient’s genomic sequence to a reference sequence and reports back any differences between the patient and the reference.
The other two newly cleared devices are used to detect cystic fibrosis in suspect patients that show up with symptoms. DNA changes occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which can result in cystic fibrosis (CF), an inherited chronic disease that affects the lungs, pancreas, liver, intestines, and other organs of those who inherit a faulty CFTR gene from both parents. They are the Illumina MiSeqDx Cystic Fibrosis 139-Variant Assay, which checks specific points in the patient’s CFTR (cystic fibrosis transmembrane conductance regulator gene) gene sequence to detect known variants in the gene and the Illumina MiSeqDx Cystic Fibrosis Clinical Sequencing Assay, which sequences a large portion of the CFTR gene to detect any difference in the CFTR gene compared to a reference CFTR gene.
Less than a decade ago, the process of sequencing an individual genome (meaning decoding someone’s DNA to find out if they have or are susceptible to genetic diseases), cost anyone attempting it upwards of $1 million. Today, that cost is closer to $1,000 and falling. That means DNA sequencing can move from being an expensive luxury to becoming as standard in health care as the flu shot, helping create a world where medical treatment is truly personal. ILMN as it is known is the NASDAQ, is a buy, a very reasonable addition to one’s portfolio. Trading on Friday at $98, has reached before $100 and will probably go up higher over the next few months.
