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  • Science & Technology
  • Health & Medicine

Decode Genetics breast cancer risk test – our view

by Kat Arney | Analysis

9 October 2008

7 comments 7 comments

Today Icelandic biotech firm Decode Genetics announced the launch of the first commercially available test to assess a woman’s genetic risk of breast cancer, costing around £1,000.

Although we’re rapidly understanding more and more about the role of genes in cancer risk, we believe that it’s too early for a test of this kind to be released to the general public.  We are also concerned that the tests would be used without clear counselling about what the results might mean.

Click on the player below to listen to a short interview with Cancer Research UK Senior Clinical Research Fellow and breast cancer genetics expert, Dr Paul Pharoah, explaining his concerns about the test.

Link to download (1.4Mb, 2 mins 25)

There’s also an excellent, in-depth exploration of the issue over on Dr Len’s Cancer blog from the American Cancer Society.

Kat


    Comments

  • Stuart Hogarth
    15 October 2008

    I have just had a very useful chat with Berwyn and we are trying to clarify the position.

    I did not want to suggest that deCODE’s single tests were now available DTC. What I was saying is that you can get effectively the same test from deCODE direct to consumer (DTC) because the company have been pursuing two models of provision:

    1) single tests each for a specific disease which are available only via physician referral (these are the tests which Lab21 are providing in UK)

    2) the direct to consumer (DTC) genome scan – deCODEme.
    see: http://www.decodeme.com/index/about_genetic_profile

    The deCODEme service provides information on disease risk for a greater number of conditions than are available as single tests from the company (for instance celiac disease is included but is not available as a single test). But the deCODEme service includes all the diseases tested for as single tests and they appear to be reporting on exactly the same genetic markers and providing the same risk estimates.

    deCODE have added breast cancer to the list of conditions which are available as part of the DTC deCODEme service and the markers they are testing for would appear to be the same ones as they test for in the single test.
    see: http://www.decodeme.com/information/trait/BCRS

    Anyone wanting to discuss this further can email me at:
    [email protected]

  • Kat
    14 October 2008

    Thanks for clarifying that, Berwyn, and thanks to everyone for an interesting discussion.

    Kat

  • Berwyn Clarke
    13 October 2008

    On behalf of Lab21 who are the only licenced provider of deCODE tests in the UK I would like to clarify a few of the points mentioned by Paul and Stuart since they are factually incorrect. Firstly, in the UK and Ireland all deCODE tests are managed by Lab21 and the single deCODE tests can ONLY be ordered via physician referral – we NEVER accept test requests direct from any patient or non-clinical source. Secondly, we recognise that some physicians may not be comfortable with interpretation of the results from the single assays. Consequently Lab21 offers a full counselling service which can be used by the referring physician at their discretion and this is also available for all the genetic tests we offer including the Myriad BRCA1 and 2 tests. So it is incorrect to assert a) that tests can be requested by patients and b) that genetic counselling for deCODE tests is not provided. If anyone wants to discuss these points or find our more about the Lab21 service please feel free to call us or visit us in Cambridge (01223 395461)

  • Paul Pharoah
    10 October 2008

    There is nothing hypocritical in the view Cancer Research UK is taking about the newly launched test. There is great potential for the use of genetic tests such as these in clinical decision making, but the tests are not, in my opinion, ready for clinical use.

    These are not contradictory viewpoints. Decode do not offer a counselling service, nor does their press release say they offer sound advice to the physician or patient on how to interpet their test results. If these tests are to be useful it is critical that the relative risks estimated by the tests are appropriately converted into absolute risks.

    Those absolute risks must then be discussed with patients, so that they are appropriately interpreted. There is much to learn about the interface between this sort of genetic testing and clinical decision making before a test can be used.

    Gillian says that this test should only be used by a physician who is able to interpret the result or has access to a genetic counsellor. I have discussed these sort of risk with many other physicians and scientists and many, including those who have spent much time thinking about them, find the concepts difficult to understand. Thus, the potential for misuse is enormous.

    Dr Paul Pharoah
    Cancer Research UK Senior Clinical Research Fellow
    Dept Oncology,
    University of Cambridge

  • Stuart Hogarth
    9 October 2008

    It is not true that the deCODE test is only available via physician referral.

    I believe that it is the case that when deCODE launched its first tests they were only available as single tests via physician referral (for the diabetes test they teamed up with DNA Direct, but even then you would have received telephone counselling).

    However, after 23andme launched (and with Navigenics close to market) deCODE quickly moved into the consumer genetics market with deCODEme. You can now get all the tests they offer as single tests (still apparently only availablef via physician referral) as part of the deCODEme consumer genetics service.

  • Gillian
    9 October 2008

    People seem to want to tarnish the deCODE test with the other direct-to-consumer tests that are getting such bad press. This test has full clinical validation and has been assessed in over 100,000 patients. Also, it is not available to anyone, it should only be ordered by a physician who is able to interpret the result or has access to a genetic counsellor. This is a HUGE step forward for womens health

  • Mark
    9 October 2008

    Call me cynical, but isn’t it hypocritical to criticise the development of a test that the same people were trumpeting just a short time ago?

    http://news.cancerresearchuk.org/2008/06/26/using-breast-cancer-genes-to-improve-screening/

    Comments

  • Stuart Hogarth
    15 October 2008

    I have just had a very useful chat with Berwyn and we are trying to clarify the position.

    I did not want to suggest that deCODE’s single tests were now available DTC. What I was saying is that you can get effectively the same test from deCODE direct to consumer (DTC) because the company have been pursuing two models of provision:

    1) single tests each for a specific disease which are available only via physician referral (these are the tests which Lab21 are providing in UK)

    2) the direct to consumer (DTC) genome scan – deCODEme.
    see: http://www.decodeme.com/index/about_genetic_profile

    The deCODEme service provides information on disease risk for a greater number of conditions than are available as single tests from the company (for instance celiac disease is included but is not available as a single test). But the deCODEme service includes all the diseases tested for as single tests and they appear to be reporting on exactly the same genetic markers and providing the same risk estimates.

    deCODE have added breast cancer to the list of conditions which are available as part of the DTC deCODEme service and the markers they are testing for would appear to be the same ones as they test for in the single test.
    see: http://www.decodeme.com/information/trait/BCRS

    Anyone wanting to discuss this further can email me at:
    [email protected]

  • Kat
    14 October 2008

    Thanks for clarifying that, Berwyn, and thanks to everyone for an interesting discussion.

    Kat

  • Berwyn Clarke
    13 October 2008

    On behalf of Lab21 who are the only licenced provider of deCODE tests in the UK I would like to clarify a few of the points mentioned by Paul and Stuart since they are factually incorrect. Firstly, in the UK and Ireland all deCODE tests are managed by Lab21 and the single deCODE tests can ONLY be ordered via physician referral – we NEVER accept test requests direct from any patient or non-clinical source. Secondly, we recognise that some physicians may not be comfortable with interpretation of the results from the single assays. Consequently Lab21 offers a full counselling service which can be used by the referring physician at their discretion and this is also available for all the genetic tests we offer including the Myriad BRCA1 and 2 tests. So it is incorrect to assert a) that tests can be requested by patients and b) that genetic counselling for deCODE tests is not provided. If anyone wants to discuss these points or find our more about the Lab21 service please feel free to call us or visit us in Cambridge (01223 395461)

  • Paul Pharoah
    10 October 2008

    There is nothing hypocritical in the view Cancer Research UK is taking about the newly launched test. There is great potential for the use of genetic tests such as these in clinical decision making, but the tests are not, in my opinion, ready for clinical use.

    These are not contradictory viewpoints. Decode do not offer a counselling service, nor does their press release say they offer sound advice to the physician or patient on how to interpet their test results. If these tests are to be useful it is critical that the relative risks estimated by the tests are appropriately converted into absolute risks.

    Those absolute risks must then be discussed with patients, so that they are appropriately interpreted. There is much to learn about the interface between this sort of genetic testing and clinical decision making before a test can be used.

    Gillian says that this test should only be used by a physician who is able to interpret the result or has access to a genetic counsellor. I have discussed these sort of risk with many other physicians and scientists and many, including those who have spent much time thinking about them, find the concepts difficult to understand. Thus, the potential for misuse is enormous.

    Dr Paul Pharoah
    Cancer Research UK Senior Clinical Research Fellow
    Dept Oncology,
    University of Cambridge

  • Stuart Hogarth
    9 October 2008

    It is not true that the deCODE test is only available via physician referral.

    I believe that it is the case that when deCODE launched its first tests they were only available as single tests via physician referral (for the diabetes test they teamed up with DNA Direct, but even then you would have received telephone counselling).

    However, after 23andme launched (and with Navigenics close to market) deCODE quickly moved into the consumer genetics market with deCODEme. You can now get all the tests they offer as single tests (still apparently only availablef via physician referral) as part of the deCODEme consumer genetics service.

  • Gillian
    9 October 2008

    People seem to want to tarnish the deCODE test with the other direct-to-consumer tests that are getting such bad press. This test has full clinical validation and has been assessed in over 100,000 patients. Also, it is not available to anyone, it should only be ordered by a physician who is able to interpret the result or has access to a genetic counsellor. This is a HUGE step forward for womens health

  • Mark
    9 October 2008

    Call me cynical, but isn’t it hypocritical to criticise the development of a test that the same people were trumpeting just a short time ago?

    http://news.cancerresearchuk.org/2008/06/26/using-breast-cancer-genes-to-improve-screening/