Personal genome sequencing raises big issues, says FDA

As the prospect of individualised, genomic sequencing for individuals fast approaches the mainstream, the US FDA is considering ways to regulate the technology.

FDA Commissioner Margaret Hamburg writes in a recent blog post that so-called next-generation sequencing (NGS) technologies – which allow physicians to obtain information on large segments of a patient’s genetic make-up quickly – “pose some novel issues for FDA in carrying out our mission of protecting and promoting public health.”

“Most diagnostic tests follow a one test-one disease paradigm that readily fits FDA’s current device review approaches, notes Hamburg. In contrast, NGS “produces a massive amount of data that may be better handled using a new approach.”

The FDA’s decision to look into its oversight of NGS comes as personal genetics company 23andMe, which offers a low-cost DNA screening service that can be carried out on a saliva sample sent via the mail, has started to expand beyond the US market and into Europe.

It also follows the FDA’s approval last year of the first NGS sequencing instrument, namely Illumina’s MiSeqDx Instrument and its two tests for cystic fibrosis mutations, which required an on-the-fly rethink of its processes to avoid a review that might otherwise have taken years to carry out.

The FDA approved the test based on a shared database of CF mutations that demonstrated the clinical value of its tests, rather than requiring them to independently generate data to support each mutation’s association with the disease, writes Hamburg.

The pledge comes as President Barack Obama has just unveiled a new Precision Medicine Initiative, a programme backed with $215 million in federal dollars aimed at accelerating the development of personalised medicine based on people’s genes.

The new funding includes $130 million for a National Institutes of Health (NIH) project that will recruit volunteers for genomic studies, $70 million to help the National Cancer Institute (NCI) identify genomic drivers in cancer, and $10 million to support the FDA’s new initiatives in this area.

Despite the clear healthcare potential of NGS technologies, the implications of genomic profiling go beyond clinical applications, as discussed by panellists during the Astellas Innovation Debate last week.

Giving patients access to detailed genomic profiling information can raise significant issues, particularly if there is no direct action that can be taken on the basis of that information. Meanwhile, there are also significant concerns about the data getting into the wrong hands and being misused, for example to deny someone employment or health insurance.

The FDA published a preliminary discussion paper in late December that asked a series of questions about how to best assure that tests are “not only accurate and reliable, but are available for patients as soon as possible,” notes Hamburg.

The agency intends to hold a public meeting on NGS technology on 20 February.

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