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FDA Approves Sale of High-Throughput DNA Sequencing Systems

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The U.S. Food and Drug Administration yesterday cleared for marketing high-throughput sequencing systems by Illumina Inc. in San Diego to analyze a person’s DNA. In a commentary on this approval in New England Journal of Medicine, FDA director Margaret Hamburg and National Institutes of Health director Francis Collins say, “Access to these data opens the door for the transformation of research, clinical care, and patient engagement.”

Sequencing an individual’s DNA reveals the precise order of the base parts in a DNA strand, known by their initials A, G, C, and T. Advanced and powerful computing makes it possible to determine this sequence order for the entire genome, revealing information about a person’s genetics, such as mutations that contribute to various cancers. DNA sequencing technology has advanced to the point that entire genomes can be sequenced in 24 hours and under $5,000, a process that once took months and cost millions of dollars.

FDA cleared Illumina’s MiSeqDx instrument platform and related reagent kits that will allow medical labs to develop tests based on sequencing data. The MiSeqDx system analyzes the genes isolated and copied from blood samples, then compares the individual’s genomic sequence to a reference or model sequence, highlighting any differences. FDA granted Illumina’s application in a de novo petition, a regulatory procedure where equivalent devices are not yet on the market, and the applicant needs to show evidence of the device’s effectiveness.

FDA also cleared two of Illumina’s MiSeqDx systems customized for sequencing genes associated with cystic fibrosis, an inherited disease resulting in build-ups of damaging mucus in the lungs, airways, digestive, and reproductive organs. Illumina’s systems check for variations in the CFTR gene, where mutations are associated with the disease, and sequences the gene to detect differences with a reference CFTR gene. FDA says Illumnia validated its systems against standards developed through FDA’s partnership with National Institutes of Standards and Technology.

Hamburg and Collins, in their New England Journal of Medicine article, say new sequencing technology can advance pharmacogenomics, the application of genomic data to find the right drug and doses for individual patients. The authors say clinical use of pharmacogenomics has been limited because of the difficulty in getting genomic data into the hands of physicians when prescribing therapies. Having genomic data available in or linked to a person’s medical records would make it easier to prescribe more individualized treatments, and remove the need for first taking DNA specimens, shipping them off to a lab, and waiting for the results.

The authors highlight, however, areas that still need to be advanced before personalized medicine is more the rule than the exception. “We need to continue to uncover variants within the genome,” say Hamburg and Collins, “that can be used to predict disease onset, affect progression, and modulate drug response.” The authors also indicate new genomic findings need validation, reimbursement issues need to be addressed, and new regulatory policies are needed to protect patients’ rights in questions involving the use of genomic data in disability, life, and long-term care insurance.

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