Finding the Sweet Spot in Regulating Genomic Medicine

Theral Timpson

New technologies and the possibilities they bring to improve human life always come in fits and starts.

Genomic medicine is no exception.  The overdriven tools space of next generation sequencing has created a bursting spring season in genomics research.  New studies linking “this” biomarker with “that” phenotype bloom with a force of nature leading some to make bold predictions about man’s ability to conquer his own form.  We can smell eternity.

Selling information about our bodies--biomarkers, for instance--will be big business, maybe bigger than pharmaceutical remedies.  Genomic knowledge brings power.  Will it also bring profit?

In the meantime, medicine continues it’s steady march.  Streams of new genomic tests based on biomarker studies are finding their way to patients, sometimes through established channels, sometimes in new avenues,  often leaked through the cracks.   Streams and rivers must be watched closely when it rains.  When linked to human health, they must be regulated.

So far the translation of genomics into routine clinical use has been regulated mostly by CLIA, the Clinical Laboratory Improvement Amendments overseen by CMS, the Centers for Medicare and Medicaid Services.  

When a biomarker test is used in conjunction with a therapeutic, the FDA or Food and Drug Administration has insisted on an approval process for the biomarker test.  The FDA calls such biomarker tests medical devices.

But can all genomic and other ‘omic information be converted to simple, easily commercialized tests like Roche's HER2 test?  Furthermore, should this information and the clinical interpretation of it be regulated by two different government regulatory bodies?

These questions remain unanswered and form the basis of a new series at Mendelspod, Regulation and Genomic Medicine.  

The deluge of genomic data has found routes outside of traditional healthcare channels.  Through ubiquitous internet connections, the data is being made directly available to the masses.  Some say that healthcare is becoming more democratic and that we are seeing a fundamental shift from treated patients to smarter consumers.

Last November, however, the FDA put a monkey wrench in this democratic genomic current by stopping the direct-to-consumer company, 23andMe, from selling their health related genomics tests to consumers.  And with much backlash.  Some have charged the FDA with being “paternalistic” and a “killer of innovation.”  Others are relieved by the FDA’s action, contending that this so called “democratization” of genomics is eroding the quality and therefore the potential value of genomic testing.

Our first guest in the series is Cliff Reid, the CEO of Complete Genomics.  With an eye on delivering whole genome tests and reports to clinicians, Cliff has been of the opinion that routine clinical genomics might first take off in a country outside the control of the US FDA.  His company was recently purchased by the Chinese genomics firm, BGI or Beijing Genomics Institute.  Practically then, Cliff talks of the opportunities in China where regulation has been limited, if not primitive.

However, last month China cracked down on NGS based genetic testing.  Cliff explains that the new regulations are an important step forward for China and remains bullish on the opportunity there.

Back in the U.S., Cliff envisions a two-tiered system:  a highly regulated clinical avenue on the one hand coupled with democratic opportunities for consumers to get their own data on the other. 

The FDA says they are not opposed to consumers having their own genomic data, but are concerned over how the data is interpreted.  Cliff envisions consumer sites that aid in interpretation and get around FDA concerns.

Our second guest will be Anne Wojcicki, CEO of 23andMe, the company recently targeted by the FDA.  In her interview, Anne says her vision of delivering genomics data out to the masses remains undiminished.  She says the company is working closely with the FDA to get their test back on the market.   Is this a straightforward process, or does she see it as a major setback?  Ms. Wojcicki sounds confident about satisfying the regulators at the FDA.  She says she draws inspiration from her employees who “have always known they were in a ‘whiplash’ culture.”  For Anne, there may be setbacks and the way forward ambiguous, but the target remains clear.

Our third guest is working on the front lines of genomic medicine.  Elaine Lyon is the senior medical director of molecular genetics at ARUP Laboratories.  She’s also the new president of AMP, or the Association of Molecular Pathologists.    After discussing the impact of next gen sequencing on the lab, Elaine has some well informed thoughts as to the sweet spot of regulation.  

First of all, she says that her product is not a simple test, but the report that is delivered to the clinician.  Elaine feels that the professionalism of laboratory technicians is overlooked.  Much preparation and study is needed to be able to run these tests and interpret the results in a way that doctors find clinically relevant.  

This is why Elaine supports a change in terminology.  A lot has been said and written about whether LDTs, or laboratory developed tests, should be regulated by the FDA or whether CLIA is enough.    Elaine says that, in fact, they are not LDTs, but really LDPs, or laboratory developed processes.  And how does the FDA go about regulating a process, Elaine asks, which includes a highly trained subjective interpretation of the results? 

Elaine is concerned that having both FDA and CLIA regulation will be too onerous for labs.  “We’ll just end up not offering the tests,” she says in her interview.

The remaining two guests are yet to be interviewed.  We plan to speak with someone from the FDA to reveal their latest thinking.  And we aim to represent the diagnostics industry, members of which are increasingly making FDA approval part of their business plan and strategy up front.

What is this sweet spot for regulating genomic medicine?  Will Cliff Reid's two-tiered suggestion be the way forward?

We found this suggestion written on April 1st provocative, even if made in fun.