Moving Towards Personalized Medicine:

FDA Approves Clinical Use of Genome Sequencer

Categories: Spring 2014
For the first time, the US Food and Drug and Administration (FDA) approved a high-throughput DNA sequencing device, also known as a next-generation genomic sequencer, for clinical use. Leaders of the FDA and National Institutes of Health (NIH) say this is a step towards personalized healthcare.

Next-generation sequencers use advanced technology to read and interpret large amounts of DNA in a single test. They sequence a patient’s DNA more quickly and at a lower cost than with other methods. The specific machine approved by the FDA for broad clinical use is the Illumina MiSeqDX. Previously, this sequencer was used only for research.

Impacting Patient Care

With this technology, physicians will have greater access to their patients’ genetic information. Doctors will be able to look for genetic changes in a patient and consider an individual patient’s genomes, or genetic blueprint, when diagnosing diseases or identifying the cause of symptoms.

NIH Director Francis S. Collins, M.D., PhD., and FDA Commissioner Margaret A. Hamburg, M.D., explained that this could significantly impact cancer treatment.1 Recent research from the Cancer Genome Atlas indicates that the way a cancer responds to medical treatment may have less to do with the cancer’s original location than its genetic mutations. This relates to Dr. Catalona’s research efforts to further expand our knowledge of prostate cancer genetics. Today, certain types of cancer have limited available medical treatments. With access to a patient’s genomes, doctors could identify mutations seen in other types of cancer, opening up the possibility of additional treatment options for individual patients.

The new technology may also help doctors use pharmacogenomics when prescribing medication. Pharmacogenomics is using genomic information to identify the right drug at the right dose for each patient. Over 120 available medications have pharmacogenomic information in their labeling. However, pharmacogenomics has been difficult to widely implement because it is difficult for doctors to access a patient’s genetic information.

This could change with clinical use of next-generation sequencers. Eventually, a patient’s genetic information could be part of a patient’s electronic medical records. Doctors could have access to genomic information needed to use pharmacogenomics when prescribing specific drugs to individual patients.

Looking to the Future

Collins and Hamburg also wrote that the FDA approval is only a step towards personalized healthcare. Further research is necessary to confirm the utility and safety of using genomic information for drug treatment. Researchers also need to continue finding genetic variants that contribute to a disease’s progressive nature and response to treatment.

1 Collins F., Hamburg M. First FDA Authorization for Next-Generation Sequencer. N Engl Med. 2013; 369(25):2369-2371.

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