• 11 Jul 2017
  • 14 min
  • 11 Jul 2017
  • 14 min

Dr David Liew interviews Dr Ken Harvey about over-the-counter genetic tests, and whether they are all they promise to be. Read the editorial in the June 2017 issue of Australian Prescriber.


Welcome to the Australian Prescriber podcast. Australian Prescriber. Independent, peer-reviewed and free.

I'm Dr David Liew, your host for this episode and it's a pleasure to be speaking to Associate Professor Ken Harvey today about retail genetics. Ken Harvey is an associate professor at the School of Public Health and Preventive Medicine at Monash University in Melbourne, but he's much more than that. He’s lived a fascinating career which started in medical microbiology and infectious diseases and, via the early days of antimicrobial stewardship and quality use of medicines, has become a leading voice for consumer protection for medicines and therapeutics, becoming what The Age newspaper has described as ‘an anti-quackery crusader’. He and his colleague Dr Basia Diug have written a fascinating editorial in the June edition of Australian Prescriber on Retail Genetics. Dr Harvey welcome to the program

Good to be here, David, thank you.

Now in recent years we've seen a rise in genetic tests in Australia which consumers can purchase online or over-the-counter. Tell me, where has this come from and how's it playing out?

Well clearly the public and the medical profession has got some fascination with genomics and genetics, you know the DNA, the human DNA, her code has been sequenced. People are aware that there's a lot of interest and potential benefits from that, and so it's not surprising that companies have moved in to exploit that and offer tests to consumers, some of which are useful and some of which I think are pushing the boundaries.

There's certainly been a lot of interest in the media in recent times. Can you give some examples of what some of the tests are, and what they claim to do?

Well, for example, some pharmacy chains have been offering direct-to-consumer tests for looking at the genetic profile which might be relevant to various drugs. Pharmacogenomics is the technical name for it and they're offering tests, some of which they said, you know, would be very useful for large numbers of drugs and would be good for your children and good for you, and implying that really everyone needed these tests to make sure that medication use would be optimised. Now again the concern that I and some of my colleagues have had is that was really going a bridge too far. This was really overhyping the usefulness of some of these tests. Yes, if a patient has got genuine problems with responding to certain drugs like antidepressants for example, then one of the reasons for this can be their genetic profile. But it's only one of many reasons that doctors need to take into account for a patient's poor response. And to imply that virtually all consumers should be having a pharmacogenomic profile done to optimise their therapy, their medication, seemed to us to really be going much further than the limited science on this justified. And indeed that was also the conclusion of the Australian Competition and Consumer Commission which again did have some words with a pharmacy chain involved and it did get them to modify some of their promotional material.

Because I think there’s some pretty big claims being made by the providers of these tests. And it must be very hard for consumers to be able to see the forest for the trees for that.

That's right. Well, as I say, some of the more limited claims were made on optimising drug therapy and, as I say, that has got a kernel of usefulness in it. But certainly online and from overseas you can get a variety of other tests, you know, offering for example to test for 31 disease conditions, 53 carrier states, 12 drug response genes, six wellness tests, 11 addictions, and again those claims go well beyond the limited evidence. But clearly they could sound quite convincing to consumers. Have I got a genetic predisposition to addiction? Do I want to know about it? Can something be done about it which is more relevant?

I mean who doesn't want a little bit of wellness in their life? I can imagine that it would be the kind of thing that people wouldn't necessarily see the variable evidence behind it. They might just see the flash e-marketing on the front.

Well that's true but as we know from screening tests generally there's harm as well as benefit. Inevitably there will be positive results sometimes of dubious validity which can then cause people to be worried unnecessarily, can lead to a cascade of other investigations to sort them out, and again my own view is that we should stick to where the evidence is definite, and again I'm not at all convinced that offering these tests direct to consumers is the right way to go. I think the preference is that they should be talked about to a consumer’s general practitioner and the pros and cons of going down these paths should be discussed.

Let's just explore that a little bit more. It's obvious these can be quite expensive tests and there can be a significant danger of unnecessary costs involved to the consumer. But it sounds like there's actually further risks of the consumer as well in terms of over investigation and other risks following on from that.

The validity of these tests, of many of the genetic tests, is still not well worked out. These tests are not standardised. I mean in Australia, for example, up until next month, there’s been no regulation at all about what the Therapeutic Goods Administration call in vitro diagnostic tests which these fall into. The TGA regards them as medical devices, interestingly, and again there is no regulation at the moment and I think many of us are calling for more education, more validation of these tests, so that, you know, no matter which laboratory they’re organised in or they’re ordered at, doctors and consumers can get some reliable results. At the moment that's not so, partly because as I say the lab methodology is not accredited particularly, and equally because the knowledge is changing rapidly in terms of variations, extra tests that can be done. So there is a need I think for regulation and education.

We'll talk a little bit about regulation in a moment. We know there are some tests, there's certainly some good pharmacogenomic tests which have a role in this. There is good evidence but there have been a growing array of tests and, like you say, and the overseas component, the online component, means that tests from overseas can really work their way into our market and might be able to get past any regulation that enters in Australia.

Well that's a basic problem with the internet, not just for pathology tests but also for therapeutics. You know, we warn, and the TGA, the Therapeutic Goods Administration, I think again has got some good advice. You know, be very cautious about ordering either drugs or pathology tests overseas. There's a lot of shonky operators out there and again it's very important to be very suspicious. Much better to stick to Australian-validated laboratories and Australian-validated pharmacies. But again when we come back to genomic tests and genetic tests the regulation still hasn't caught up with where the market is at.

So regulation exists in order to protect the consumer. What's the risk to the consumer here? Some people will say, what would the harm possibly be?

Investigating the genetics concerned with the metabolism of certain drugs can be useful. But I do have concerns when these are offered direct to consumers either via pharmacies or via pathology companies, without the general practitioner being directly involved. I know that when this is done via pharmacies, yes they will give a report to the patient and suggest they take that along to the general practitioner, and often the report is sent to the GP as well, but some of my GP colleagues have sort of said, well what on earth are we meant to do with this when we get it? We haven't ordered it. We weren't aware of any problems of the patient. What are we meant to do? And I think that's a fair comment. Again my own view is, if a patient's got some concerns, it's much better to discuss this with their general practitioner. Certainly ask if there might be a place for a pharmacogenetic test to sort out the problems, and then they can have an informed discussion about whether it's worthwhile and, if the results come through, they can have an informed discussion about the value of those results to their particular problems.

Because when the pharmacist orders a test, one has to think that to some extent the pharmacist is responsible for counselling the patient on the results of the tests and helping to take action on that. And certainly a lot of pharmacists have much better pharmacological knowledge than a lot of doctors. But what’s the danger here? Why wouldn't pharmacists be in a position to be able to help patients in that respect?

Pharmacists, you know, I have great respect for pharmacists and they are experts in medication and certainly, yes, they can have a good understanding of the role of some of these pharmacogenetic tests, but they are not aware of all the individual idiosyncrasies of the patient involved that the GP is, and there are many other aspects of the patient that can impact on medication decision making, you know, the other medications they're on, family history etc., particular problems of allergies. And again I don't believe that the pharmacist, much as I respect them as co health professionals, are in the business of being the sole providers and arbitrators and educators about these tests. Now to be fair, most pharmacists would say, yes, they’ll order them and send them to the general practitioner to sort out the problems, but again that's putting the emphasis on the GP who hasn't ordered the tests, hasn't discussed the value of them with the patient and can be put in a very difficult position, as we know with patients coming in with internet pages they've printed off and in this particular instance, you know, pages of advice on tests that they themselves haven't ordered. And yes, and do need, will need to bone up on themselves.

So tell me a little bit more about what the regulatory landscape is doing at the moment. There're big changes coming ahead, aren't there?

Well there are. It has been, as I say, there has been no regulation of these sort of tests. They are regarded as a Class 3 in vitro diagnostic medical device, as I say, which seems a little obscure, but that's what the Therapeutic Goods Administration regards them as, until 2010 there was virtually no regulation of these tests. A new regulatory framework came in in 2010 which was meant to ensure that these tests underwent a level of scrutiny commensurate with their risks, and commercial medical device manufacturers now must have a conformity assessment certificate from the TGA which gives us some degree of assurance that they’re going to do what they’re meant to do. But local laboratories who developed these tests in-house, it's not until next month that they've got to be accredited by the National Association of Testing Authorities in Australia and they've got to meet National Pathology Accreditation Council performance standards.

I mean it certainly sounds like the regulation is having to play catch-up with not just the evolving technology but the evolving availability of tests and how they interact in that retail space. It's certainly hard for those frontline doctors and pharmacists to be able to navigate this quagmire as well. What do you think could be done to help our colleagues on the frontline to be able to deal with this?

Well clearly there needs to be better education about what are appropriate tests and in particular that needs to be kept up to date because, as I say, the knowledge keeps changing. The National Health and Medical Research Council has produced useful information in the past about direct-to-consumer genetic testing but that hasn't kept up to date with the sort of tests that are being offered at the moment. And again I think both the National Prescribing Service, the NHMRC need to be doing more in this area. There certainly is literature available in terms of the current status of some of these tests and their usefulness, and actually in the last issue of Australian Prescriber, in the current June issue of Australian Prescriber, there has been an article by an Adelaide colleague which again gives some useful advice about where some of these tests can be genuinely used for exploring certain drugs, but again I think he and his colleagues make the point that there is a need for more ongoing education. The other point I'd like to make is it's not just the science of the tests and their validity. There's also the problem of promotion which is another grey area. I've mentioned that the ACCC has intervened earlier this year to try to tone down some of the excess claims for some of these tests, but we're seeing a lot of commercial imperatives. Not just genetic tests being offered, pathology tests are now being offered through pharmacies and complementary health practitioners as screening, and again it's terribly ironic that I mean some of these tests that are being offered for screening are tests that again the National Prescribing Service has clearly said should not be used for screening, for example vitamin D.

Great, well, that's all we've got time for today, Dr Harvey. Thanks very much for joining us.

Thanks again.


Dr Harvey's full article is available online at nps.org.au/australian-prescriber and, like our whole journal, it's free. Subscribe to get the latest Australian Prescriber delivered straight to your email inbox and follow us on Twitter @AustPrescriber to get the latest updates. The views of the host and the guest from this podcast are their own and may not represent Australian Prescriber or NPS MedicineWise. I'm Dr David Liew and thanks for joining us for this episode of the Australian Prescriber Podcast.