Direct to Consumer Genetic Testing – When is Home Use appropriate?

FDA’s Molecular and Clinical Genetics Advisory Panel met on 8-9 March to debate Home Use or Direct to Consumer (DTC) Genetic Tests and provided guidance on conditions under which kits may be suitable for home use.

FDA’s advisory panel considered 3 questions posed by the Agency:

• The risks and benefits of supply of direct to consumer genetic tests;

• Risks associated with  misunderstood or miscommunicated results from home use tests and possible mitigations; and

• The level and type of scientific evidence that should be required for home use genetic tests and specifically if this should be any different to that required for prescription testing.

It was a lengthy debate over two days and a complex set of issues were discussed and of course there was not always agreement.     But there were some interesting  views expressed…

Some (but not all) tests  should be prescription only

The panel considered the suitability for home use of five specific types of test: carrier tests, pre-symptomatic tests, susceptibility/pre-dispositional tests (risk assessment), pharmacogenetic tests, and nutrigenetic tests.  Supply of home use genetic tests was certainly not ruled out – but there was an abundance of caution (and caveats) and consensus that at least some tests should be prescription only including  pre-symptomatic tests with high predictor for a disease, with potentially severe consequences, and pharmacogenetic tests.  At the other end of the scale the panel was comfortable with the possibility of at least some types of nutrigenetic tests being offered direct to consumer. 

One suitable safeguard is to require results for certain home use tests to be provided via a clinician.  That’s an approach which has found acceptance in a number of other jurisdictions.  For example tests for certain STDs – where the availability of a home use test may provide public health benefits through increased use.  There are a number of non genetic test examples of such DTC kits with clinical routing of results – for example HPV testing.

Patient knowledge tests?  Kit suppliers required to provide counselling?

In considering the risks from misunderstood or miscommunicated tests, the panel pointed to the challenges arising from the absence of established  performance characteristics for some population/test combinations and the differences in absolute risk between geographic and ethnic groups.  Clear labelling is obviously important but the panel also floated the idea of requiring a qualifying “knowledge test” to assess if a patient was able to understand the result, prior to supplying the test.  The panel also expressed the view that suppliers should be required to provide access to qualified genetic counsellors for their customers.

Multiplex tests “valid and appropriate” approach

Selection and validation of a subset of  genes was considered analytically valid  although the panel cautioned that this approach would require confirmatory testing of the results of highly multiplexed clinical tests.

No Harmonisation here

IVD regulation continues to evolve globally and home use genetic testing will continue to be a sensitive issue.  There  are no shortage of new tests, many supplied via Internet marketing channels without regulatory approval.   FDA has cracked down on some of these.   In some jurisdictions, including Australia, home use genetic tests are banned completely.  In Europe, all home use tests must pass detailed design dossier review by Notified body before they may be sold.   In others (e.g. Korea) there are proscribed lists of specific tests which may not be supplied direct to consumers.    

Global Harmonisation has yet to come for IVDs.  This regulatory complexity, coupled with the breathtaking pace of innovation in diagnostics which means regulators are often forced to play catch up, means that it’s a daunting ask to bring new IVDs to global markets.

Click here for the summary of the Panel meeting 

Arthur Brandwood 

Developing a new IVD?  Entering a new International market?  Brandwood Biomedical has extensive experience in regulatory requirements and submissions for IVDs including in emerging markets in the Asia Pacific.  Contact us for a confidential and obligation free discussion of your needs.

The Future of Health is... in the hands of the patient

For a fascinating presentation on trends in health and technology - see "The Future of health" from PSFK.  The novelty and innovation is inspiring. 

The thing that strikes me is the amount of devolution to the user - all of those smart, net enabled home use devices, diagnostics and Smart phone apps. The escape of technology from hospitals and professional practices into the homes and hands of the user has always been a challenge for regulators (let alone to the medical profession).  This presentation really spells out just how widespread this trend has become.    Fascinating stuff.  Thanks to Peter Lewis of Hydrix for sending this to me.

Arthur Brandwood

Revising the IVDD - a new risk classification for IVDs in Europe?

The European Commission has formally opened consultation on possible revision of the In Vitro Diagnostic Devices Directive (IVDD).  This follows earlier proposals to revise or "ReCast" the MDD of which more below.  Details of these reviews can be read here.

The big question is - what about the classification system - will Europe move to a risk based classification, in place of the current List A and List B system? If so  - what will that look like?

The likely answer: Look to the risk based classification developed in GHTF (actually from an original Australian proposal) and now adopted into the Australian system just a few days ago. This classification is also being picked up in ASEAN, is under active consideration at AHWP. and will almost certainly be the basis for revision of the EC IVDD.

When the initiative to "Recast" the MDD was floated a while back it was interesting how the UK MHRA responded. In their written submission they said...

 “the UK regrets that the [RECAST] questionnaire does not address the possible need for a fundamental review of the operation and effectiveness of the In Vitro Diagnostic Medical Devices Directive which we believe is now urgently required.”

They then said...

“In principle, the UK could support consideration being given to replacing the current listing system for In Vitro Diagnostic medical devices with a risk-based classification system.”

Given theat Europe is a founding member of GHTF - look to a push to pick up the GHTF risk classification in Europe.

The implications are considerable - most IVDs in Europe are not directly reviewed at the moment - being allowed to be marketed under CE self declaration. The GHTF risk classification changes all that, capturing a much larger proportion of devices marketed. This has caused considerable difficulty in Australia where most devices are imported and gain market access based on European Notified Body certification.

For further details on the Australian system - see the paper from Paul Cohen published in AIMS Journal.