Archive for the 'In The News' Category

Page 2 of 2

Friday Links

This will be somewhat of an introspective Friday Links, looking at what other people have had to say about our recent announcement. We’ll resume our regular programming next week.

It’s been a big week here at Genomes Unzipped, with the announcement that all of the group members have released their genetic data publicly. The announcement was accompanied by a story by Mark Henderson in The Times (subscription only, unfortunately, but also syndicated here) along with commentary from Misha Angrist, Linda Avey and Christine Patch.

You can also listen to Daniel talk about the project on the BBC World Service (starts 19m30s), and Carl on BBC Radio Scotland (starts 38m). Finally, Luke and Daniel were on CBC Radio’s The Current today.

Continue reading ‘Friday Links’

A missed opportunity: what the GAO report could have told us about DTC genetic testing

The recent United States Government Accountability Office report on direct-to-consumer (DTC) genetic tests was the star attraction of a bruising Congressional hearing into the DTC industry, and sparked widespread headlines about “bogus” results from the genetic testing industry.

The report is prefaced by the statement:

GAO did not conduct a scientific study but instead documented observations that could be made by any consumer.

While it is the GAO’s prerogative to conduct their study as they see fit, we believe that they missed a valuable opportunity to survey the DTC genetic testing industry and systematically evaluate what is and isn’t being done well. In this post, we discuss how the discoveries that the GAO reported were already largely known, and assess the opportunities that the GAO missed to provide genuine insight. What could the data they collected have told us if they had decided to add a little more scientific rigour to their investigation?  

Continue reading ‘A missed opportunity: what the GAO report could have told us about DTC genetic testing’

The past, present and future of DTC genetic testing regulation

(Newsweek reporter Mary Carmichael has a DNA dilemma: should she buy a direct-to-consumer genetic test? To help answer that question, she’s recruited people with expertise in various areas related to personal genomics – and a diverse range of opinions about the industry – to address specific areas of concern. At the end of the week she’ll announce her decision.

This post is a brief version of Dan Vorhaus’ response to one of Mary’s questions: how should these tests be regulated? Check out the Newsweek website for other answers to the question, as well as a fantastic extended interview with two senior FDA officials. The full version of Dan’s response is now up at Genomics Law Report.

For other Unzipped contributions to Mary’s project, see Jeff Barrett’s post about risk predictions on Tuesday, and my post on test reliability and the balance between knowledge and fear yesterday. –DM)

The regulation of DTC genetic testing has been consistently characterized as confusing, incomplete and irregularly applied. Recent events – Pathway and Walgreens, a bevy of ominous FDA letters, a Congressional Hearing and a GAO report criticizing DTC genetic tests – indicate that the tide may finally be turning. Yet a brief historical review discloses that DTC has actually been down this road before. A GAO report decrying the evils of DTC genetic testing and a subsequent Congressional hearing? 2010 and 2006. Threatening regulatory letters to DTC companies? 2010 and 2008. DTC genetic testing has faced down the specter of heightened regulation before, and over the long term I am confident it will continue to do so.

Nevertheless, in the short term it is possible that DTC genetic testing will be subjected to a substantially more restrictive regulatory framework. Will DTC continue unchanged while regulators and companies engage in protracted negotiations? Will oversight weed out the ‘snake oil salesmen’ and permit legitimate companies to flourish? Or will it drive all genetic testing (temporarily) out of the hands of consumers?

I cannot advise you to take the test or not, but I can say that if you want to proceed there is no time like the present, for there is no guarantee that the option will still be on the table tomorrow.

Should you trust a genome scan?

(Newsweek reporter Mary Carmichael has a DNA dilemma: should she buy a direct-to-consumer genetic test? To help answer that question, she’s recruited people with expertise in various areas related to personal genomics – and a diverse range of opinions about the industry – to address specific areas of concern. At the end of the week she’ll announce her decision.

This post is my response to one of Mary’s questions: How does she know if she can trust the results, and should she be scared of what she might find out? A summary is also posted on the Newsweek website along with answers from Thomas Goetz, Hank Greely, Robert Green and Misha Angrist.

Genomes Unzipped is well-represented in Mary’s project: Jeff Barrett wrote about risk predictions yesterday, and tomorrow our resident legal expert Dan Vorhaus will be discussing the present and future state of regulation of the DTC genetic industry.)

The results you receive from genetic testing companies rely on two critical steps: firstly, the generation of your raw genetic data; and secondly, the interpretation of that data into information about your ancestry, family and disease risk.

For reputable genetic testing companies – and I would count the four major personal genomics companies (23andMe, deCODEme, Navigenics and Pathway Genomics) in this category – the first step is generally extremely accurate. These companies rely on the same technology used by academic researchers studying the genetic basis of human disease, applied in carefully quality-controlled labs, so their error rate is typically very low. As an illustration, I recently had an opportunity to compare the raw genetic data provided by two companies to Times journalist Mark Henderson, and found an error rate per company of around one in every 14,000 data points: that’s far better than most routine clinical tests.
Continue reading ‘Should you trust a genome scan?’

Why prediction is a risky business

(This is an extended version of a short piece written as part of a series organized by the excellent Mary Carmichael at Newsweek. Readers eager for more detail on the statistics behind risk prediction should read Kate’s excellent discussion posted yesterday.)

In 2003 Francis Collins, having just led the human genome project to completion, made a prediction: within ten years, “predictive genetic tests will exist for many common conditions” and “each of us can learn of our individual risks for future illness”. The deadline of his prophecy is fast approaching, but how close are we to realizing his vision of being able to get a read-out of disease risk from a person’s DNA?
Continue reading ‘Why prediction is a risky business’

While You Were Meeting: FDA Mails Letters to 14 More Genetic Test Providers

(Cross-posted to Genomics Law Report.)

Earlier this week the FDA held a widely publicized two-day public meeting to discuss its planned regulation of laboratory developed tests (LDTs) (for more see: Day One Recap and Day Two Recap). Other than Monday morning, when the FDA presented background information on LDTs and some of the considerations that have pushed the agency to pursue a “risk-based application of oversight to LDTs,” the top agency officials at the meeting were conspicuously quiet. Elsewhere, however, the FDA was doing plenty of talking.

In letters dated July 19th, the first day of the FDA’s public LDT meeting, the agency continued its crackdown on direct-to-consumer (DTC) genetic test providers, mailing letters to 14 providers of genetic tests. A list of all 14 companies and tests appears below.

Continue reading ‘While You Were Meeting: FDA Mails Letters to 14 More Genetic Test Providers’

Personal Genomics Goes to Washington

(Cross-posted to Genomics Law Report.)

Next week, the eyes of the personal genomics world will be focused on Washington, D.C., where the FDA and Congress will be meeting separately to consider the industry’s future. First, the FDA will convene a highly-anticipated public meeting (July 19th and 20th) to “discuss how the agency will oversee laboratory-developed tests (LDTs).” The FDA announced last month a proposal to develop a “risk-based” approach to oversight of all LDTs – a broad category that includes the vast majority of genetic tests, including high-complexity diagnostic tests (IVDMIAs) and direct-to-consumer (DTC) genetic tests. Hot on the heels of the FDA meeting, on July 22nd, the House of Representatives Committee on Energy and Commerce – which two months ago launched its own investigation into the personal genomics industry – will hold a subcommittee hearing on “Direct-to-Consumer Genetic Testing and the Consequences to the Public Health.”1

While the genomics and personalized medicine communities anxiously await the upcoming FDA and Congressional meetings, yesterday the future of personal genomics was being debated on the opposite coast, at a policy forum in San Francisco entitled “Genomics and the Consumer: The Present and Future of Personalized Medicine” (pdf). The forum, which was hosted by California State Senator Alex Padilla (sponsor of S.B. 482, the so-called “bioinformatics bill”) and personal genomics company 23andMe, was filled with speculation from personal genomics investors, providers, customers and commentators about what the FDA and Congress might have in store for the field.

Continue reading ‘Personal Genomics Goes to Washington’


Page optimized by WP Minify WordPress Plugin