Author Archive for Dan Vorhaus

Review of the Lumigenix “Comprehensive” personal genome service

This is the first of a new format on Genomes Unzipped: as we acquire tests from more companies, or get data from others who have been tested, we’ll post reviews of those tests here. The aim of this series is to help potential genetic testing customers to make an informed decision about the products on the market. We’re still tweaking the format, so if you have any suggestions regarding additional analyses or areas that should be covered in more detail, let us know in the comments.

Overview

Lumigenix is a relative newcomer to the personal genomics scene: the Australian-based company launched back in March this year, offering a SNP chip-based genotyping service similar in concept to those provided by 23andMe, deCODEme and Navigenics.

The company kindly provided Genomes Unzipped with 12 free “Comprehensive” kits, which provide genotypes at over 700,000 positions in the genome, to enable us to review their product. We note that the company offers several other services, including a lower-priced “Introductory” test that covers fewer SNPs, and whole-genome sequencing for the more ambitious personal genomics enthusiast. This review should be regarded as entirely specific to the Comprehensive test.
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DTC Genetic Testing and the FDA: is there an end in sight to the regulatory uncertainty?

Disclaimer: Genomes Unzipped received 12 free kits from Lumigenix for review purposes, and Dan Vorhaus has provided legal advice to the company. We plan to release a full review of the Lumigenix service in early July.

Last month three direct-to-consumer (DTC) genetic testing companies opened their mailboxes to find a slightly ominous but entirely expected letter from the FDA. The three recipients (LumigenixAmerican International Biotechnology Services and Precision Quality DNA) received substantively equivalent letters, with the FDA warning each company that its genetic testing service “appears to meet the definition of a device as that term is defined in section 201(h) of the Federal Food Drug and Cosmetic Act,” and that the agency would like to meet with company representatives “to discuss whether the service [they] are promoting requires review by FDA and what information [they] would need to submit in order for [their] product to be legally marketed.”

Translated from bureaucratese, that means that the FDA views these services as ones that may need to be formally reviewed by the agency and either approved or cleared before they can be legally sold. The FDA letter asks each company to describe its service and to explain either (1) why it does not require FDA approval or (2) how the company plans to pursue such approval.

This is a strategy that the FDA has pursued with a growing cadre of DTC service providers. These letters (currently 23 and counting1) represent the only public and company-specific actions the agency has taken to date with respect to DTC genetic testing. While many DTC letter recipients are engaged in dialogue with the FDA, those conversations have occurred beyond the public’s view. Until now.

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My Genome Online – A Challenge To You

[Editor’s Note: This guest post is contributed by Blaine Bettinger. Blaine is the author of The Genetic Genealogist, a blog that examines the intersection of genetics and ancestry, and a patent attorney at Bond, Schoeneck & King in Syracuse, NY.]

As you may have heard, I recently made my 23andMe and Family Tree DNA autosomal testing results available for download online at “mygenotype,” and dedicated the information to the public domain (if dedicating DNA sequence to the public domain is even possible – I’m currently doing some research in this area and expect to write more in the future). [Editor’s Note: see additional comments on personal genomics data in the public domain at the end of this post.]

At “mygenotype” you can download the following:

My Family Tree DNA Results:

  1. Affymetrix Autosomal DNA Results (2010)
  2. Affymetrix X-Chromosome DNA Results (2010)
  3. Illumina Autosomal DNA Results (2011)
  4. Illumina X-Chromosome DNA Results (2011)

My 23andMe Results:

  1. V2 Results (2008)
  2. V3 Results (2010)
  3. Y-DNA Results (2010)
  4. mtDNA Results (2010)

You can also find my SNPedia Promethease reports:

In addition to my genome, Razib Khan of Gene Expression has a spreadsheet of approximately 48 other genomes that are available for download online.

A Challenge To YOU

Now that the information is out there, available to anyone who might be interested, it remains to be seen who might be interested in the information.

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Next-Gen Sequencing Heading to Madison Avenue?

For companies seeking to make their mark in the ultra-competitive next-generation sequencing (NGS) market, new technology and lower prices may no longer be enough.

As the size of the NGS sequencing market grows, and an increasing number of NGS purchasers evaluate an expanding array of providers and technologies (see William Blair’s Next-Generation Sequencing Survey), NGS companies are beginning to look beyond price points and product specs in an attempt to stand out.

Ion Torrent on the Offensive. Consider Ion Torrent, an NGS newcomer recently acquired by Life Technologies, which launched its first product (the Personal Genome Machine) a scant four months ago. Since then, Ion Torrent has announced improvements to the PGM’s output, read length and sample prep (coverage from Matthew Herper of Forbes here and here).

As it seeks to distinguish the PGM from its competitors’ products, particularly Illumina’s offerings (see J.P. Morgan’s Next Gen Sequencing Survey), Ion Torrent has added a new dimension to its PGM campaign. Ion Torrent recently launched several creative online advertisements, with its side-by-side comparison of the PGM and Illumina’s MiSeq system—modeled after Apple’s popular “I’m a Mac/I’m a PC” campaign—raising the most eyebrows.
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People Have A Right To Access Their Own Genetic Information

This week has seen another FDA meeting seeking guidance on how to regulate direct-to-consumer (DTC) genetic tests in the US. The meeting itself has been covered by GNZ bloggers Daniel at Genetic Future and Dan at Genomics Law Report, and its apparent outcome has sparked furious debate elsewhere. The discussion among the “independent” panel convened at the meeting appeared to converge on the proposal that all health-related genomic tests should be ordered and reported through physicians. However, the outcomes of the meeting in terms of FDA policy remain unclear, and one FDA official has indicated that decisions about the availability of genetic tests will be made on a test-by-test basis.

There is no doubt that the appropriate regulation of personal genomics tests is a complex issue, and there is a diversity of opinion about how best to achieve it within GNZ (as there is throughout the genomics community). However, there are several points we agree on:

  • Individuals have a fundamental right to access information about themselves, including genetic information. While it is important to also consider the accuracy, interpretation, validity and utility of tests, this underlying principle should guide policy.
  • There is currently no evidence that DTC genetic tests pose a danger to consumers. A recent study of over 2,000 participants in DTC testing concluded that “testing did not result in any measurable short-term changes in psychological health”. In the absence of any evidence of harm there is no justification for restricting individual autonomy.
  • DNA does not have magical powers, and does not require special treatment simply by virtue of being DNA. Genetic exceptionalism – the idea that genetics must be treated as special under the law – is an inappropriate basis for policy-making. Tests should be regulated appropriately based on their predictive power, utility and potential for harm, all of which are related concepts.
  • As DNA sequencing becomes cheaper, the line between medical and non-medical testing will continue to blur. Excessive regulation of health-related genetic tests could also unncessarily hinder the ability of people to access their entire genome sequences for other purposes (such as genetic genealogy).
  • Most clinicians do not have the appropriate knowledge to interpret genomic tests, particularly in healthy individuals. This point is almost universally agreed, even by the FDA, and has certainly been the experience of some of the GNZ members upon taking our genetic results to doctors. Physicians in general are therefore a strange choice for ‘guardians of the genome’.
  • Most early adopters of DTC genetic tests are sufficiently well-informed to understand the implications of a genomic test and interpret the results correctly. Putting a general physician between these informed individuals and their own genomes is paternalistic and unnecessary.

While the outcome of the FDA’s deliberations remain uncertain, it is clear that there will be intensive lobbying against any attempt at excessive legislation. In the worst case scenario, the fledgling and innovative personal genomics market could be crushed by the FDA. However, there is still plenty of room for a measured approach that enforces test accuracy, punishes false claims and promotes informed choices by consumers, without reducing the ability of responsible companies to continue to operate and innovate.

We urge others in the genomics community to make their voices heard on these issues. Let the FDA – and, if you’re based in the USA, your political representatives – know that regulation of genetic testing should be based on evidence, not fear, and that any attempt to unreasonably restrict your access to your own genetic information is unacceptable.

HiSeq doubles its output, a next-gen sequencing primer, and return of genetic data to patients

Illumina CEO Jay Flatley announced that an upgrade to their HiSeq 2000 platform expected this spring will allow users to generate 600 gigabases of sequence (the equivalent of 5 high quality human genomes) per one-week run of the machine. This would essentially double the current throughput of the platform and propel Illumina even further ahead in the arms race of delivering vast quantities of low cost sequence data. [JCB]

Over at Golden Helix, Gabe Rudy has just completed a three-part series introducing readers to the promise and challenges of new DNA sequencing technologies, which is well worth a read for those just starting out in the analysis of next-gen sequence data or who have a more-than-casual interest in the current state of the field. [DM]

This month’s edition of Trends in Genetics includes a review article on the ethical issues raised by the feedback of individual genetic data to research participants by Bredenoord and colleagues. This has long been a subject of debate, but the recent increase in studies that assay a large number of genetic variants (such as genome-wide association studies and whole-genome sequencing studies) has brought this issue to the fore. There is currently no consensus on how to deal with this, and in my experience the approach favoured has varied both between projects and between the ethics committees that have assessed them.

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A Googol of Genomes?

[Editor’s Note: this was originally posted over at the Genomics Law Report but we’d like to survey Genomes Unzipped readers as well. How many complete genomes do you think will be sequenced in 2011? Poll is at bottom.]

Earlier this week we took a look back at 2010 and offered our projections for the coming year in personal genomics. Topic #1, just as it was last year: the $1,000 genome.

In hindsight, it might have been ill-advised to offer predictions about the near-term future of genome sequencing during the same week in which one of the year’s major industry conferences (the JP Morgan annual Healthcare Conference) is taking place.

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Why public genomics is not a purely personal decision

I knew I wanted to be a part of Genomes Unzipped from the very first day Daniel told me about the project. But the decision to actually participate was more complicated.

I’ve spent a lot of time over the past five years thinking about the benefits and risks of personal and public genomics. By sheer good luck I became an advisor to the Personal Genome Project (PGP) in its early days, long before PGP-1 (George Church) was joined by so many others (the arrival of the PGP-1K was announced yesterday) interested in exploring public genomics. As a result of that connection, I have been able to continue to work with the PGP, exploring the issues raised by public genomics research as they arose, often for the first time, in connection with that project. And as part of my day job I edit an online publication (the Genomics Law Report) and advise clients—both focused on issues arising at the intersection of personalized medicine, genomics and the law.

As a result of all of this time spent thinking and writing about personal and public genomics, I’ve come to know a few things. I know that I believe the benefits of public genomics, for both science and society, to outweigh the risks. I also know that I might be wrong about that, but I know that I’m comfortable accepting that risk, too. I know that I want to support personal and public genomics projects. Most of all, I know the decision to join a project like Genomes Unzipped is not mine alone.

Before agreeing to participate in Genomes Unzipped, I knew I would need to seek—and receive—permission from my family. There was no legal requirement that I obtain their consent before joining the Genomes Unzipped team and, ultimately, publishing my genetic data for the world to review. But that did nothing to change the strong personal obligation I felt to seek my family’s consent.

While my genetic information is personal to me, it could also have something important to say about my family members. The strong likelihood was that it would not, particularly once you diluted the limited predictive value of most genetic markers with a hefty dose of uncertain utility and a large helping of additional uncertainty thanks to the fact that I share, on average, only 50% of my genome with each of my family members. But while I could calculate that risk as small, and accept it for myself, I could not unilaterally accept it on behalf of each member of my family.

Knowing that, I set out to talk to my family about Genomes Unzipped and my interest in participating in the project, and to learn whether that was a decision they would each be willing to support. Spoiler alert: there is no surprise ending here. You would not be reading this post if any member of my family had not fully supported my decision to join Genomes Unzipped.

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Getting Serious About Personal Genomics’ Risks

When we launched Genomes Unzipped three months ago, we promised a focus on the “budding industry of personal genomics.” Recent developments, however, have demonstrated that this emerging field is susceptible to critics who may be more focused on generating controversy than in engaging in a thoughtful discussion about the balance of risks and benefits in personal genomics. The University of California Berkeley’s short-lived proposal to provide a voluntary and educational genetic testing program for its incoming freshman class highlight this concern.

Over at the Genomics Law Report, in Getting Serious About Personal Genomics’ Risks, I review the Berkeley example and argue that we must carefully examine where and why we restrict the ability of individuals to participate in personal genomics. The failure to do so threatens not only the future of personal genomics but the autonomy of the individuals involved.

For more, please see the complete post at the Genomics Law Report.

Regulation of personal genomics: what next?

(Dan Vorhaus’ comment on a previous post recaps a number of key issues discussed during Regulation Week here at Genomes Unzipped, so I’ve promoted it to be the final post of the week – and the final post, for the moment, on the regulation of the direct-to-consumer genetic testing industry. These are questions we all – and especially the FDA – need to consider carefully over the next few weeks. Next week we’ll be getting back to the science, at least until the next regulatory scuffle emerges. DM)

1) Wait and Talk. On the topic of “don’t knock it until we see it,” while I think Jeff and Kate’s point is well-taken, I would also suggest that it is incumbent upon the regulated community – which includes companies, investors, customers and even clinicians – to speak up about what does and does not make sense when it comes to a regulatory solution. The FDA’s public conversation was part of that process, but that was (a) not directed specifically at the regulation of DTC testing and (b) should mark the beginning, not the end, of the dialogue. There are still a number of options on the table, and not all of them are equal. Waiting passively for regulators to act may not be the best strategy.

2) Line-Drawing. It’s clear that whatever regulatory system emerges – and this applies to the much broader category of lab-developed tests (LDTs), as well as to DTCs – the issue that Caroline, Misha and so many others have identified is going to be one of, if not the, most difficult to solve: what counts as a medical interpretation worthy of heightened regulatory scrutiny?

Regulating all genomic interpretations is incompatible with providing broad access to genomic information, since only a handful of people can interpret the raw data on their own (and I’m certainly not one of them). But determining where to draw that line, particularly given the interconnectedness of gene-trait associations and the rapid rate of change in the science (both discussed in this comments thread), is going to be fiendishly difficult. The key will be to come up with some standard-setting body that strikes the proper balance between involving stakeholders (this is an issue that should not be determined by the FDA – or any other agency – acting on its own) and minimizing the number of voices so that the body is nimble enough to respond to changes in the science. I’m not sure there are any perfect solutions here.

2a) Useful to Whom? A sub-point here is whether that line-drawing incorporates (i) analytical validity, (ii) clinical validity and/or (iii) clinical utility. I think that there is widespread agreement on (i), a general agreement that (ii) is important, although no clear agreement on how to assess it, and very little agreement about whether (iii) is appropriate. The issue of clinical utility gets at one of the core tensions here: is my genomic information useful when I say it is useful, or only when my doctor (or some standard-setting body) says it is useful?

3) What is special about DTC? When it comes to the regulation of DTC genetic tests – as a subset of all other genetic tests – I think we (and regulators) need to be much clearer than at present in explaining where, exactly, the concern lies. Is it that individuals are being misled by untrustworthy businesses? If so, then the Federal Trade Commission (or possibly the FDA acting in a similar role; the Genomics and Personalized Medicine Act would have the two agencies work together) has a clear role to play. Is it that genetic tests are not appropriately evaluated beyond analytical validity? If so, then it’s not clear that DTC tests should be regulated differently than the broader category of LDTs. Or is that individuals cannot be trusted to appropriately handle certain types of genetic information and interpretations? If so, then it may be that certain types of information simply cannot be presented directly to consumers, although then we return immediately to the line-drawing problem discussed above.

It is insufficient to know that the FDA intends to regulate DTC genetic tests (as they clearly do); what is needed is a clearer explanation as to whether, why and how DTC genetic tests are to be regulated differently from other types of tests.

4) Transparency First. Finally, I can only echo Daniel’s comment that, no matter what, there is a need for greater transparency. By this I think we both mean a more proactive approach to data collection (i.e., what genetic tests are available, how they are marketed, how they are used by individuals and what impact – positive or negative – they have on end users, both with respect to and apart from influencing medical decisions) and greater regulatory openness. Without such transparency it is difficult to see how any government entity can expect to craft a regulatory framework that strikes the proper balance between the protection of the public and the preservation of innovation and long-term growth in the area of genetic testing and personalized medicine.


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