Author Archive for Caroline Wright

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Responsible and effective use of personal genomes

This is the final of three posts from panellists in the Race to the $1000 Genome session today at the Cheltenham Science Festival – this time by Genomes Unzipped’s own Caroline Wright.

As the previous posts from Clive Brown and Adam Rutherford have indicated, there has long been enormous hype and hope surrounding the human genome project and the prospect of a $1000 genome. But what do these developments really mean for the general public? What do we need to know – either as individuals or as health care providers – before we can decide whether it’s worth having a genome sequenced?

Before starting to unpick some of the issues involved in the responsible and effective use of personal genome sequences, it’s worth reviewing how, where and why someone might actually have their genome sequenced. There are currently essentially three different and nonequivalent contexts in which an individual could have their genome sequenced:
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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.

My delightfully uninteresting genome

For some people, genetic information is formidably powerful. It can reveal that you have inherited a debilitating disease which lies unavoidably in your future, that you have a massively increased susceptibility to a particular cancer which can only be mitigated by surgery, or that you are not biologically related to your parents and siblings.

But, for many people, it’s actually quite mundane and uninformative. I’m one of those people. Undergoing genome-wide profiling was interesting, educational and worthwhile, and I would certainly recommend it as a voyage of exploration. But it hasn’t really been useful for my health. (It’s perhaps worth noting that a SNP profile covers only a fraction of the potential disease-causing variants, but nonetheless I doubt there’s anything I need to be scared of lurking in the rest of my genome.)

So, what did I learn?
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Estimating the size of the DTC genomics market

Over the last few years, I’ve found that the same question keeps cropping up again and again at meetings whenever we talk about direct-to-consumer genetic tests:  “How many people are actually buying these tests?”. And because the companies (for whatever reason) have thus far been rather reticent about telling us how many kits they’ve sold, until recently the answer has simply been “I don’t know”. Yet if we’re going to talk about their sociological impact, their knock-on effect on health systems, and re-writing our regulatory laws around them, surely this is something we ought to have a handle on.

So… how many people have actually bought these tests then?

The problem is how to go about estimating a market size when there is precious little data, and the companies are all privately owned? First, we teamed up with some enthusiastic MBA students, who came up with the simple but elegant idea of using website hits as a proxy for market share. Using Compete.com, we found that the ‘big three’ – 23andMe, deCODEme and Navigenics – together had just over 662,000 unique hits during 2009, of which 23andMe received the lion’s share at nearly 80%. (They received fairly constant internet traffic throughout the year, with an average of around 43, 4 and 8 thousand unique visitors per month respectively). Pathway had only just launched when we did the analysis, resulting initially in a large transient spike in internet traffic, so we left it out.

Second, fortunately for us, in October 2009 23andMe stated publicly that their database contained “30,000 active genomes”, which were either sold or given away at a substantially reduced rate. (This rose to 50,000 in June 2010, but that doesn’t really alter the calculations). So, assuming a steady rate of uptake, this equates to perhaps 15,000 genome scans sold during 2009. Combining this with the internet traffic data, we estimate in this month’s Genetics in Medicine [Wright CF, Gregory-Jones S. Genet Med. (2010) 12: 594] that around 20-30,000 genome scans were sold in 2009, at a cost of between $300-1,000, which probably equates to a commercial value of around $10-20 million.

Is that really true?

Obviously there are substantial margins of error in any estimate made from such limited data, and caveats include the fact that we only considered tests sold during 2009 and we ignored (as much as possible) non-medical tests like paternity and ancestry testing. Nonetheless, this seems like a realistic ballpark figure, and importantly it is neither millions of people, nor hundreds of millions of dollars. We don’t know (yet) how big the market for whole genome sequences will be, or what impact preconception carrier testing might have, but at the moment it is clear that the market for DTC genetic testing is much smaller than expected or than one might surmise from all the media attention. Which means that the alleged harms to consumers, and the reputed knock-on effects on health systems, must necessarily be limited.

Nonetheless, I would dearly love to hear from any DTC genomics companies out there willing to share some more concrete data…

Personal genomics: a voyage of exploration

The last few months have seen the brave new world of personal genomics thrown into a state of turmoil, as the might of US federal regulators turns on this fledgling industry. There is no question that some level of regulation would be welcomed, to iron out the irregularities and squeeze out the fraudsters. But hidden somewhere in amongst the hype and the scaremongering are some real gems that we should not abandon lightly. Take note, please, Mr Regulator.

Some of the recent crop of consumer genomics companies are true innovators, pioneers attempting to navigate the treacherous complexities of modern human genetics. Their attempts at presenting complicated genomic and risk information in an accessible form have been exemplary. Is the information useful? For the most part, no. Is it harmful? Again, so far the answer is a resounding no. So what’s the problem? Speaking to numerous individuals who have had their genomes scanned reveals that most are notably under-whelmed by the experience – they didn’t learn much of direct use, and they haven’t changed their lifestyles. But individuals are free to chose to purchase these tests, or not, and to decide for themselves whether it is worth parting with their hard-earned cash.

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Risks and benefits of population screening

The concept of screening is bandied around quite a bit these days, particularly associated with genetics and genome profiling for both common and rare diseases. But the term is often used without due consideration or understanding of the issues associated with screening itself. If we are to critically assess the potential for personal genomics to prevent disease in individuals and populations, we need to understand some underlying public health principles.

So what is screening? Most importantly, medical screening generally involves testing (apparently) healthy people, rather than individuals with a particular clinical problem. This simple statement comes with quite a bit of baggage – if you go around telling healthy people that they have (or are likely to develop) some hideously awful disease, and need some rather unpleasant treatments to stop it, you really want to be sure that you’re right! Which means being certain that the test used is strongly predictive of the disease in question, rather than just being mildly associated with it, and that it can be used to reliably discriminate between those who have or will get the disease and those who don’t and won’t.

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