Direct-to-consumer genetic testingBMJ 2019; 367 doi: https://doi.org/10.1136/bmj.l5688 (Published 16 October 2019) Cite this as: BMJ 2019;367:l5688
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Re: Direct-to-consumer genetic testing: The perversity of genome commodification in the NHS - Chapter 2:
Horton et al’s article highlights that in the UK we have two forms of service being provided in relation to genome testing.
On the one hand is the NHS, a public, not for profit organisation, rich in data, information and clinical knowledge and constrained in terms of finance; on the other, a commercial service rich on data, poor on information and a vacuum in relation to an expectation or requirement to apply clinical knowledge to the data. The former provides a professional service involved with patients/clients, accountable for the implications of good and bad practice, and which is defined by the fundamental responsibility to the patient and to seek informed consent. The latter involves itself with customers and provides data without any such responsibilities. NHS practice is highly attuned to the possibilities of the need to minimise unintended adverse outcomes and to mitigate these when they occur and with the associated costs of research, training and professional development that flow from this.
Commercial organisations need only to ensure income is sufficient to continue in business although the aim may be to generate profit. There is currently no requirement placed upon them to seek informed consent or engage with the unintended adverse outcomes of what they contract to provide. Nor do they have to operate under the financial constraints and political imperatives which influence practice in the NHS. Horton et al’s article is necessary because when suffering or harm occur, the likelihood is that the resource which is/will be turned to is the NHS. Without regulation and standard setting,, the NHS, financed by all us, will continue to be called upon to pick up the problems consequent upon practice which would not be allowed by its practitioners. In effect, we are underwriting the commercial possibilities of exploitation of the genome - a Ragged Trousered Philanthropy for the 21st Century?
Competing interests: I provide supervision groups for Genetic Nurses & Counsellors
This week’s piece by Horton et al on direct-to-consumer (DTC) genetic testing was a welcome discourse in the rapidly moving field of genetic testing. As a junior doctor benefiting from the NHS Wales funded MSc in Genomic Medicine at Swansea Medical School, I’m often greeted with blank looks by fellow doctors and AHPs when responding to what I’m studying and of what use it might be.
This year NHS England became the first health service in the world routinely offering genomic testing , and in 2017 the Welsh Government introduced the Genomics for Precision Medicine Strategy, aimed at developing genomics to improve health and healthcare provision in Wales . Yet I’m constantly left with the feeling that many of us working for the NHS outside the field of genetics are being slow to catch on.
Meanwhile, DTCs use insecurity and advertising to create demand , are insufficiently regulated  and allow individuals to obtain their genetic information with no counselling. However, they promise the dream of 'personalised medicine': using personal genetic information to access better diagnostic and prognostic services, facilitate prevention and involve people more in their health lifestyle . It’s no surprise that patients are eager to engage with this dream. Unless both healthcare professionals and the public are better informed as to the complexity of genetic testing, we risk abandoning personalised medicine to the "vagaries of the private sector" .
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Competing interests: No competing interests
Kudos to The BMJ for addressing this issue of increasing importance. I myself am not interested in these things, but then I'm in the latter stages of life, not wondering about my future .... and I know people who are both quite interested and quite concerned.
I am pleased that this article is written in a way that interested consumer/patients can learn from, and that you've made it open access.
It occurs to me that this is the situation we always face when any class of people gains its first access to some class of information: at first we don't know what to make of things, so a responsible person is naturally concerned! We faced exactly this issue in the US with the initial debates about patient access to the medical record or even blood tests: "They'll panic if they see a single number printed in red!" And indeed they did, sometimes. So it goes with clueless newbies.
But as I said in my Washington testimony one day, "The solution is not to restrict and constrain. Empower the people: enable, and train." (Similar arguments were raised about the increased accident rates of women drivers; nobody noticed that the rates were comparable to male drivers in their early days, and nobody today discusses that women today have fewer arguments than men.)
p.s. As a general issue as The BMJ continues its Patient & Public Partnership, including the very very welcome policy of open access on articles like this, I hope the editors will consider different wording for the "What You Need To Know" section. It's written to clinicians, which is consistent with the "headnote" at top of page, "Intended for healthcare professionals." But perhaps we can find wording that welcomes engaged patients, rather than assuming we're bystanders. Could it say "What the clinician needs to know," with corresponding word changes in the bullet list?
It would have been delightful if the "This practice pointer" passage had acknowledged the lovely possibility that some of us ordinary mortals might by (a) interested, and (b) fully capable of absorbing the advice. Ideally, then, the article would help us become informed peer advisors to our friends and family, further relieving the knowledge gap between citizen and professional.
Competing interests: No competing interests