IntroductionDr Susan Kelly looks at the HGC report on preconception screening
Egenis Senior Research Fellow Dr Susan Kelly responds to the Human Genetics Commission report ‘Increasing options, informing choice: A report on preconception genetic screening and testing’.
In response to a request by the UK National Screening Committee to ‘provide advice on the social, ethical and legal implications relevant to whole-population preconception genetic screening’, the Human Genetics Commission (HGC) prepared a report. Not only was this a fairly vague request, but the HGC expert committee convened to prepare this report chose to ‘address preconception genetic testing more broadly than in the context of NHS-led preconception genetic screening programmes, to ensure that all the relevant general issues were considered’. It is not surprising, then, that the reasoning and recommendations in the HGC report, ‘Increasing options, informing choice: A report on preconception genetic screening and testing', are a bit of a muddle.
First, the report fails to address a central consideration in the development and implementation of a whole-population genetic screening programme: what is the rationale for doing so? What is the relevant population? And according to what criteria are target conditions included in screening? The report references several well-known examples of community (and in one instance, population) preconception screening, in each of which a strong community or public health rationale underlies the programme. The HGC committee, however, did not address these issues, but rather put forward a guiding ethical principle of ‘respect for reproductive autonomy’ which, it said, implies that ‘a range of reproductive options should be available (all other things being equal). This in turn implies that preconception genetic testing should be available as one such option and that it should be equally available to all those who may benefit from it.’
While it is debatable whether reproductive autonomy implies that preconception genetic testing should be available on a screening basis, the reasoning of the report appears to be that a screening programme is implied by the ‘equal availability’ clause of this claim. This further rests on the unequal knowledge held by people who are aware of a family, or ancestry, based risk of conceiving a child with a heritable condition, and who may on that basis seek preconception genetic testing, and those individuals who are not aware that they may have such a risk, and therefore are not aware that they could seek preconception genetic testing. So the rationale for population screening here appears to be unequal distribution of awareness, and this interpretation is supported by the key recommendation that education related to preconception genetic testing be part of school curriculum. This is rather muddled reasoning, in particular as it confuses issues of individual risk/awareness, and population risk and screening. The likely, or rational, form of screening programme developed and implemented under this reasoning would be broad based, potentially including a wide range of potential carrier conditions. While the feasibility of such a broad screening programme under the NHS is highly questionable, it raises further significant concerns about counselling, interpretation, support and quality. Again, the report does not address the complexity inherent in, much less the rationale, for broad based screening.
This reasoning also raises real concerns about how individuals are likely to respond to ‘offers ‘of preconception genetic screening tests (again, for what?). There is currently ample evidence that under antenatal screening programmes, in spite of programmatic efforts to ensure ‘informed choice’, women perceive screening to be routine, and may indeed feel pressured to accept screening without full consideration of its consequences and their own preferences. This further suggests that resources directed to supporting individuals being offered preconception screening on a whole population basis need in-depth consideration.A secondary rationale provided in the report for considering population preconception screening is the rapidity with which genetic testing technologies are advancing. They are certainly becoming cheaper, more accurate, and faster, and this is indeed a trend with which the health system will need to grapple. A US-based research group has recently announced development of a preconception genetic test that screens for hundreds of conditions at once. However, the counselling and interpretation requirements to accompany such a test, offered on a population screening basis, are mind boggling, to say nothing of grappling with the heritability complexities of such a wide range of conditions. Certainly the public education required would be far beyond the capacities of a school curriculum.
It would have been heartening to see such a report engage sensibly with the rationale for population preconception screening, particularly in comparison with other public health measures aimed at improving reproductive autonomy and child health. Clarity regarding public health rationale, criteria, and programme development are lacking in this report, stemming from an initial muddle with regard to individual and population screening.