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NHMRC Draft Statement and Resource for Consumers: Direct-to-Consumer Genetic Testing submission

ID: 
7
This submission reflects the views of
Organisation Name: 
Life Letters
Please identify the best term to describe the Organisation: 
Commercial company – biotechnology
Personal Details
Questions
Q1. Is the draft Statement presented and written in a manner that is easy to understand?: 

Yes.

As a process note, the format for online responses makes submissions difficult as the topic issues in the structured questions do not follow the headings in the Statement or its general structure. Accordingly, comments end up lacking logical flow and do not follow the original document.
 

 

Q2. Is the draft Statement comprehensive and does it cover all of the key issues?: 

In the context of a four page overview, yes. Subject to comments below it does a good job for a brief document.

Q3. Is there any further advice that should be included in the draft Statement on the accuracy of DTC genetic testing?: 

The statement that “only a tiny fraction of these many genetic variants have been demonstrated to inform clinical care and/or assist in patient outcomes” is factually true. Given, however, that the number of variants referenced is a tiny fraction of a very large number, this “tiny fraction” actually translates into a substantial number of  variants that do, in fact, assist in patient outcomes. We believe this should be restated to make this clear.

Leaving an impression that genetic testing is of little clinical relevance would be unfortunate, given, among other things:

  • Over 160 pharmaceuticals having FDA labels on genetic associations;
  • The AMCG recommendations for reporting of incidental findings; and
  • The ACOG/AMCG preconception carrier screen opinions/guidelines

Statements made towards the bottom of the section headed “The Need for Robust Evidence” concerning misleading information or differing interpretations provided by DTC companies should ideally be sourced. Some, at least, are attributable to popular press and carry their own issues as to accuracy and robust evidence.

Off-shore labs vary in quality, with the highest being of the same standards and certified by similar bodies, to those we have in Australia. Many labs in the UK, US, Canada, Europe and Singapore are accredited by their own national testing/QA authorities that are broadly similar to our own and increasingly apply global standards. Not all labs are the same and not all are bad. Many are very, very good.

The main issue here is that guidance should be provided on how to tell and good lab from a questionable one and a reliable report from an unreliable one.

Q4. Is more advice needed in the draft Statement on legal risks, risk rated insurance or privacy issues?: 

This section should make clear that the issues related to risk-rated insurance are common to all genetic tests and not just to DTC. The same is true of possible implications for family members also dealt with in this section.

Further, the risk-rated insurance issue will only apply to some, not all, genetic tests. For example, it is hard to see it as an issue in pharmacogenetic screening.

More generally on regulatory issues, Australia has an opportunity to lead the world in creating a regulatory environment for genetic testing that establishes a platform for responsible delivery of service. This, in turn, could bring both improved healthcare outcomes for Australians and, perhaps, create global business opportunities for Australian enterprises.

The NHMRC should have a leading role to play in proactively shaping that regulatory environment.

In the interim, the comments around privacy are arguably alarmist. The fact that samples and analyses are sent or held off-shore is not necessarily bad. It is only an issue if the regulatory environment of that jurisdiction is inappropriate and/or the privacy policies of the testing entity are not what the consumer wants.

It is also unclear what situation is being referred to with the statement “This is of even greater concern in cases where the DNA of a person is surreptitiously obtained and tested without their consent.” Is this a common occurrence at all, let alone outside paternity testing?

While we agree that chain of custody is important, “surreptitious” testing is hardly common and it’s also unclear what could be done about it unless every lab globally that did not ensure end to end chain of custody was shut down. Accordingly,  mentioning this concern in the same context as other (more practical) concerns may lead to undue anxiety for clinicians and/or their patients.

Finally, while the statement that “protections applicable to Australian-based health services are not enforceable for DTC genetic testing companies based off-shore” is true, it is only true in the context of Australian law and regulations. Off-shore DTC companies will be subject to their local laws and regulations, which may be more or less strict than those in Australia. Although not necessarily easy or practical, any concerns about a DTC test available in Australia could always be addressed in the local jurisdiction or via contractual dispute resolution provisions and remedies.

Perhaps, again, guidance should be more around what to look for in the laboratories’ privacy policies, together with strong advice to read and understand it thoroughly.

 

Q5. Is more advice needed in the draft Statement on the usefulness of DTC genetic testing?: 

The statement that “The need for caution is supported by the FDA ordering the cessation of activities of one DTC company until such time that the company can validate its heath testing” is not strictly true. The company concerned was not ordered to stop all of its activities; rather, it has ceased reporting on certain characteristics but it continues to offer DTC services today, restricting its reporting to non-health related issues.

While the draft is concerned with health-related genetic testing, it needs to consider that that is a broad category and the “three elements” do not apply equally in all cases and may not apply to some at all.

The approach taken needs to appropriately balance patient autonomy with protection from harm and will vary as evident from these examples:

  • Hard vs soft ear wax;
  • Haemochromatosis;
  • Familial adenomatous polyposis or Huntington’s disease; and
  • Less clinically verified behavioural genetics

The need for health professional involvement also varies as scientific and ethical risk involved in a particular test increases. There should not be a “one size fits all” approach.

Accordingly, the idea that “tests would be an approved medical genetic test, undertaken in a professional health care setting” may be appropriate for some tests, but certainly not necessarily for all.

As a general matter, any reliance on doctors to be the first port of call for all (or most) genetic testing is perhaps (unfortunately) unrealistic. As stated above, it may also be unnecessary in some cases.

The average Australian GP graduated shortly after the commencement of the Human Genome Project and well before plummeting sequencing costs led to a vast number of association studies on which clinical assessments are based.

Consequently, until education and training catches up with the massive rate of advancement of the science, not to mention the ethical, social and legal issues, many GPs will be poorly placed to provide adequate guidance particularly in the context of short consultations.

We believe that new approaches will be necessary to up-skill the installed base of GPs.

In addition, responsible processes that deliver genetic testing only using clinicians where necessary, or where desired by the patient, will need to be developed.

While we agree that the relevant professional organisations will and should have a role to play, there is no reason why the provider of a genetic service, even a DTC one, should not also have a role where a consumer has freely chosen this approach. We believe that it is not an “either/or” proposition.

In fact, given the enormity of the task and the clear need for new approaches to education – both for clinicians and the general public – providers of testing could have a significant and positive role to play, provided they act responsibly. And there is no reason to assume that they will not.

Further, DTC (or “DTC-ish”) business models vary widely. Some will allow a consumer to order a test, but require a result to be delivered by a clinician, sometimes a genetic counsellor. Others allow a consumer to take some steps towards ordering a test but require the order to be authorized by a clinician. Some do both. The appropriateness of each those delivery models will vary with the scientific and ethical risks involved in the individual test.

The heading “Addressing the Rise of DNA Genetic testing” should be evaluated for re-wording. It may make it sound like a threat that needs to be managed rather than the opportunity it is.

Further, the second last paragraph could better balance that opportunity with the attendant risks. First, consumers have long been able to self-diagnose by typing symptoms into Internet search engines. One could argue with some force that this unguided approach has already contributed significantly to the “worried well” population, and that an informed DTC test could potentially reduce this tendency. More importantly, and while it may be an overly dramatic example, we believe it would be better that a consumer discovered they had (or even may have) malignant hyperthermia susceptibility in a DTC genetic test, than to not find out about it at all. The same could be said of many other conditions and drug reactions.

Q1. Is the draft Resource for Consumers presented and written in a manner that is easy to understand?: 

It is understood that in a consumer information paper, a balance needs to be struck between providing a document that is too detailed and complex, and providing one that is readily understood but is too simplistic to be worthwhile. As currently framed, unfortunately, this draft tends towards the latter.

Arguably, this approach could even be considered dangerous, as we explain below.

While we understand the need for simplicity and the desire to prevent harm, we believe that perhaps the most harmful action a consumer could take is to completely ignore a valid clinical finding from a reputable DTC lab. The overall impression of this document, and indeed some of the specific wording, could lead to them doing exactly that.

While specific concerns are addressed below, the major issue is that the paper is extremely general and doesn’t really address the very different risks, clinical as well as ethical, legal and social, that arise in examples as different as testing for each of (for example):

  • Hard vs soft ear wax;
  • Haemochromatosis;
  • Familial adenomatous polyposis or Huntington’s disease; and
  • Less clinically verified behavioural genetics

By taking a “one size fits all” approach (we assume in the interests of simplicity), much utility to consumers is lost, and fear and apprehension may be created in areas in which it is unwarranted, or could responsibly be allayed with practical guidance.

Similarly, the draft does not distinguish between issues that are (or may be) exclusive to DTC, and those that are common to other delivery models for genetic testing. The ethical, legal and social issues, for example, are common to both models. Taking this a step further, issues related to test quality and result interpretation are also common to both, although arguably in different degrees.

So while we believe that the paper is easy to understand, not only has much utility for consumers been lost in achieving that simplicity, but a number of misconceptions may have been created.

The consequence is that any and all DTC tests or providers are treated as risky or as bad as each other (which we firmly believe to be incorrect). In addition, we believe that this approach could damage consumer acceptance of all genetic testing and lead them to ignoring entirely clinically valid DTC results (which we believe could have serious implications for an individual’s health).

Interestingly, this does not appear to be the same approach taken in the Statement. This makes the documents extremely difficult to read together and risks there being quite conflicting positions from the NHMRC in the market.

For example, the Resource states “Due to the possible problems with accuracy and quality of DTC tests, your doctor will not be able to use it as the basis for health advice”. In a highlighted break-out box it also states that “DTC genetic tests should not be used as the basis for clinical decision making and health care”.

The Statement, however, appears to contradict the Resource, suggesting that ”While some DTC services provide reports of appropriate clarity with evidence based qualification, others may not be of a standard that enables them to be used as a basis for therapeutic advice”.

It is difficult to reconcile these two views except to assume that consumers (to whom the Resource is directed) will not understand the subtleties of the more nuanced position in the Statement. We do not believe that is the case.

As a side note, your preference for comment in the form of responses to standard questions generally framed to suggest “yes” or “no” answers is not an ideal way to solicit meaningful and engaged comment.

Additionally, Q2 overlaps with Q’s 3, 4 and 5 in many respects, making responses in this format repetitive.

Q2. Is the draft Resource for Consumers comprehensive and cover all of the key issues?: 

No. See comments below with respect to Questions 3, 4 and 5 and more general comments following.

As a general comment, the draft resource lacks subtlety in distinguishing not only between different flavours of DTC testing but also in distinguishing between quality providers and tests and lower grade ones.

First, off-shore labs vary in quality, with the highest being of the same standards and certified by similar bodies to those we have in Australia. Many labs in the UK, US, Canada, Europe and Singapore are accredited by their own national testing/QA authorities that are broadly similar to our own and increasingly apply global standards. Not all off-shore labs are the same and not all are bad. Many are very, very good.

Further, many tests are widely accepted to be clinically useful. These two issues are discussed further in Questions 3 and 5 below.

Second, DTC, or “DTC-ish” business models vary widely. Some will allow a consumer to order a test, but require a result to be delivered by a clinician, sometimes a genetic counsellor. Others allow a consumer to make some steps towards ordering a test, but require the order to be authorized by a clinician. Some do both.

The draft Resource is relatively coarse in that none of these distinctions are drawn, leaving an overall impression that nothing in the area is clinical grade or worthy of much further investigation.

The resource could be more useful to consumers if it explained some of those distinctions and helped consumers make informed choices. In some cases, and for some consumers, that choice will be not to have a test, but they should always be empowered to make a choice where it is not dangerous for them to do so.

The document also needs to cover the issues consumers should consider before they order tests in the first instance. It should not assume that they simply won’t do so. In particular, consumers should understand not only that genetic tests generally only highlight predispositions and probabilities (which is pointed out) but that, in some cases, and only some, there is little that can be done about the test results in terms of treatment or cure (which is not).

While it is a matter for the individual, people should understand that they are exposing themselves to potential worry about things that may or may not happen and about which they may, or may not, be able to do anything. The latter issue – not being able to do anything the results in some cases – is not addressed at all.

This issue is, of course, most acute when dealing with testing minors and, again, the issue applies equally to non-DTC genetic testing.

 

Q3. Is there any further advice that should be included in the draft Resource for Consumers on the accuracy of DTC genetic testing?: 

Yes.

A balance must again be struck between patient autonomy and protection from harm in any consideration of DTC testing. It is understood that that balance is difficult to strike.

In our view, however, this document is positioned too far away from respecting patient autonomy. Rather than helping to inform patients to make sensible – yet empowered – choices, it risks scaring them away, effectively denying them that choice.

Instead of preaching abstinence, a more appropriate approach may be to empower consumers to make smart choices and respect both their ability to do so and their autonomy in doing so.

We accept different degrees of regulation and varying levels of patient autonomy in many areas of medicine. Consumers can buy Panadol at a petrol station but need to go to a pharmacy to get Panadeine. Stronger pain relief needs to be prescribed by a physician and even some of that requires special authorization. The same concept of different levels applies in the context of genomics and the difficult balance of autonomy and protection needs to be seen in that context.

Fundamentally, we believe that we have rapidly moved to a place in genomics, including DTC, where the harm caused – or not prevented – by not applying genomics to the wider practise of health care may exceed any harm that could come from doing so in a responsible and measured way.

DTC – at least in some models and in some areas – has a role to play in this if it is delivered intelligently, responsibly and with respect for the scientific, ethical, legal and social issues involved.

While some DTC participants may deliver an irresponsible service based on bad, outdated or unsettled science, this is not inevitably the case. And consumers need to understand the differences rather than be warned off everything, good and bad alike.

While it is true that there is less visibility and oversight by Australian authorities of off-shore laboratory equipment, processes and procedures, this does not inherently mean that all of these laboratories have quality/ accuracy issues. In fact, many are accredited by organisations which are generally accepted to have similar standards to those in Australia: e.g. CAP and CLIA in the USA.

As currently written, the overall impression of this section is to create a great sense of doubt about the accuracy of all off-shore tests, rather than giving the consumer guidance as to how to assess whether an off-shore lab can be relied upon.

Instead, we suggest that consumers could be provided with information on the key criteria that would allow them to effectively differentiate between “good” and “bad” laboratories; e.g. equivalent accreditations and standards compliance, as well as good and bad tests.

The statement that many tests are provided with disclaimers is also true of tests performed locally in Australia. We believe that pointing this out in the context of off-shore tests alone reinforces the impression that these off-shore labs are all sub-standard.

Similarly, the statement that Medicare benefits are not available because “these tests do not meet the legislative requirements of the Australian Government” is arguably very misleading. There are many reasons (often bureaucratic or budgetary) that Medicare rebates are not available for these tests – which are routinely undertaken in hospital labs – and this wording risks leaving an impression that the tests are illegal, which they are not.

Finally, the statement towards the end that if you have already purchased a DTC genetic test “your doctor will not be able to use it as a basis for health advice” is overly definitive. It is also at odds with the Statement.

To take an extreme example, an Australian physician presented with a DTC report from a CAP/CLIA lab showing positive BRCA status would be grossly negligent in not using that report as a basis of health advice, even if that advice is to repeat the test locally. In addition, we would expect that any Australian hospital clinical genetics service would conduct that test based on the foreign result alone.

To suggest, therefore, that “your doctor will not be able to use that report as the basis of health advice” is inaccurate.

There will be many labs and many tests which a doctor could happily rely on, or perhaps use in the context of other information available to him or her, to create an overall picture of patient health.

Positioning all labs and tests in the same category effectively groups the best with the worst, and then to go further and suggest that they have no clinical relevance whatsoever, is not helpful. It reinforces the overall impression that the topic of off-shore testing is not worthy of serious consideration.

We believe that this approach is not in the best interests of consumers, who may need guidance in making sensible, informed choices, but clearly have a right to make those choices and should not be scared off from doing so.

While it may be an overly dramatic example, it would be better that a consumer discovered they had (or even may have) malignant hyperthermia susceptibility in a DTC genetic test, than to not find out about it at all. The same could be said of many other conditions.

 

Q4. Is more advice needed in the draft Resource for Consumers on legal risks, risk rated insurance or privacy issues?: 

Yes.

For starters, this section should make clear that the issues related to risk-rated insurance are common to all genetic tests and not just to DTC. The same is true of possible implications for family members also dealt with in this section.

Further, and again this point needs to be made, the risk-rated insurance issue will only apply to some, not all, genetic tests. For example, it is hard to see it as an issue in pharmacogenetic screening.

Indeed, insurers are actually encouraging testing with some conditions. For example, the IFSA has pioneered a new approach by encouraging early detection of haemochromatosis via genetic testing, with no adverse underwriting consequences if test-positive consumers follow the maintenance protocols (i.e. giving blood).

More generally on regulatory issues, Australia has an opportunity to lead the world in creating a regulatory environment for genetic testing that establishes a platform for responsible delivery of service. This, in turn, could bring both improved healthcare outcomes for Australians and, perhaps, create global business opportunities for Australian enterprises.

The issues that need to be considered include risk-rated insurance, privacy and data security, incidental findings and many others, and how all of these issues interact and affect the others. These issues need to be intelligently, thoughtfully and proactively debated and resolved. NHMRC and the HGAC should have key roles to play in this (and would ideally champion), creating clarity, certainty and a workable regulatory environment.

In some cases e.g. risk-rated insurance, time is of the essence. There is evidence that overseas insurers are already updating their risk models and insurance disclosures to include genetic profile information. It would be naïve to think that the Australian insurance industry was far behind. We believe that it would be less than ideal for an individual (e.g. with a family history of breast cancer) to avoid having a BRCA test because of the potential insurance implications.

 

Q5. Is more advice needed in the draft Resource for Consumers on the usefulness of DTC genetic testing?: 

Yes.

The section headed “How useful are DTC tests” is heavily weighted towards the negative, leaving a general impression that most – if not all – DTC tests are of limited clinical validity or entirely clinically useless.

In many cases, the exact same tests being offered DTC are also offered on various clinician-intermediated models. Consequently, one of the risks in this approach is that significant doubt is cast on all genetic testing, not just DTC.

Leaving an impression that genetic testing is of little clinical relevance would be unfortunate, given, among other things:

  • Over 160 pharmaceuticals having FDA labels on genetic associations;
  • The AMCG recommendations for reporting of incidental findings; and
  • The ACOG/AMCG preconception carrier screen opinions/guidelines

 

A more helpful approach might rather be to educate the consumer on how to identify what is – and isn’t – likely to be a useful or clinically valid test. Needless to say, this should always be supported by a clear, firm warning that a doctor should be consulted where a decision might have a material health impact.

Such an approach could, in effect, be taken by providing a classification of tests in accordance with their medical/social sensitivity with different guidance (and regulation) being provided according to the class. This is broadly the same approach as suggested by the ALRC and the NHMRC in Essentially Yours.

Towards the end of the section, the overall negativity towards testing is further reinforced by the references to non-genetic clinical tests and to family history and, again, applies equally to DTC and non-DTC models.

There are many future risks that are best detected by genetic testing and many others that can’t be detected any other way. Equally, family history can be opaque for a number of reasons: family legend, incorrect recollections and gaps. Occasionally,  “family” may not really be biological family.

In addition, some conditions are just sufficiently rare enough that family history may be of no practical use. The majority of parents who have newborns with Cystic Fibrosis, for example, are unaware of any family history of the disease.

It is interesting to think, however, how much genetic information, including from DTC, could supplement the traditional family history.

The statement that “Direct-to-consumer genetic tests should not be used as the basis for clinical decision making and health care” is extremely broad brush. We believe that there are many tests performed by highly reputable labs which could form a valid part of an individuals health care planning. Of course, most actions an individual could take – other than life style changes – will require the involvement of a physician, whether that is to look at potentially altering medications, or performing a procedure. The scope of harmful actions a consumer could take without reference to a clinician is limited.

In fact, we believe that perhaps the most harmful action a consumer could take is to completely ignore a valid clinical finding from a reputable DTC lab. And the overall impression of this document, and indeed some of the specific wording, could lead to them to do exactly that.

As a general matter, the reliance on doctors to be the first port of call for all genetic testing is, perhaps (unfortunately) unrealistic. As stated above, it may also be harmful or unnecessary in some cases.

The average Australian GP graduated shortly after the commencement of the Human Genome Project and well before plummeting sequencing costs led to a vast number of association studies on which clinical assessments are based. Consequently, until medical education and training catches up with the massive rate of advancement of the science, not to mention the ethical, social and legal issues, many GPs will be poorly placed to provide adequate guidance. particularly in the context of short consultations.

We believe that new approaches will be necessary to up-skill the installed base of GPs. The traditional models alone will not work and the range of organisations with a role to play in developing and delivering these new models will increase. 

In addition, responsible processes that deliver genetic testing only using GPs where necessary, or where desired by the patient, will need to be developed.

Again, a “one size fits all” approach to testing, particularly one heavily reliant on GPs, is not appropriate, desirable or needed.

The reliance on doctors also ignores the potential contribution that other highly trained professionals, such as genetic counselors, have to make.

In general then, it would better serve consumers to provide a guide on how to choose useful tests from reputable providers rather than, in effect, scaring them away from the whole idea.

It would also better serve consumers to provide guidance, and regulation, based on the scientific/social gravity of particular tests and not to treat them as being all the same. They manifestly are not, and we long ago moved to a more sophisticated approach to these matters in respect of the availability of pharmaceuticals and clinical practice.

Page reviewed: 9 December, 2014