Human Genetic Alert Response to HFEA Consultation on Sixth Edition of the Code of Practice

August 2003

1. Introduction

Human Genetics Alert is an independent watchdog group. We are not a ‘pro-life’ group and support women’s rights to terminate pregnancy. We do not view embryos as persons: our concerns about PGD relate to other social and ethical concerns.

2. General Comments

We will restrict our comments to the subject of preimplantation diagnosis, and to chapter 14 of the Code. HGA is not opposed to PGD in all circumstances. However, we are extremely concerned about the eugenics potential of this technology. Therefore, in our view, it must be regulated very strictly, in order to ensure that it does not become used more widely, in two key senses. Firstly, it should not be used except to prevent transmission of serious genetic conditions, where there is already a known risk in the family. Therefore we are opposed to preimplantation genetic screening, which may be used to expand the availability of the technique. Secondly, PGD should not be used for genetic impairments which are not serious. We are concerned that the HFEA’s mechanisms are not adequate to prevent a gradual slippage in the definition of the word ‘serious’, and the Code does little to reassure us. In fact, we feel there are already instances of the HFEA granting permission for PGD for inappropriate conditions, for example, autism. The overall thrust of many of the comments in this submission is to try to prevent this kind of slippage. In fact, we believe that the HFEA should make an official statement that PGD should only be used as a last resort, and that it should encourage clinics to take this attitude when consulting patients.

It is not enough for the HFEA to profess to taking this issue, which is of great concern to the public, seriously, if there are no clear and transparent mechanisms in place to enforce control of slippage over time. In the absence of such mechanisms, the HFEA will tend to be pulled gradually and inexorably towards expanding the use of PGD, through the enthusiasm of clinicians, and the demands of families, backed up with the threat of litigation or publicity campaigns designed to elicit public sympathy. If the HFEA wishes to retain its credibility as a strong but fair regulator, it must act to improve its mechanisms immediately.

Specific comments on Chapter 14 of the Code

1. We welcome the publication of this new section of the Code, based on the public consultation on PGD, as a step towards improving transparency of regulation.

2. We are surprised that Chapter 14 contains little about the necessary technical standards for PGD, or about the level of training required. PGD is a technically difficult procedure, which requires considerable expertise and training, on top of that required in general IVF. In our previous letter to members of the Authority we questioned the decision to license PGS in a clinic which has no prior experience of PGD. In the absence of such clear standards there is potential for problems of the kind which have made headlines frequently over the last year. We recommend that the Code includes minimum technical standards and levels of proficiency required to be licensed to perform PGD.

3. Like other forms of genetic testing, PGD requires independent assessment not only of laboratory standards but of the tests themselves. As many commentators have noted, such assessments must cover the following aspects:

• Analytical validity: is the test accurate, with a low rate of false positives and negatives?
• Clinical validity: does the test result accurately predict disease? This is a key issue with PGD, since many genetic conditions are highly variable and it is often very difficult to predict severity at the embryo stage.
• Clinical utility: is there a useful clinical intervention? With PGD, of course, the intervention being considered is non-implantation.
• Ethical and social acceptability: this is the subject of most of the rest of this submission.

The Code does not at present mention any such assessment: in effect it allows the assessment to be made informally by individual PGD practitioners. The NHS has now set up a Genetic Testing Network to assess genetic tests for use in NHS, and there is no reason why PGD should not be included in this. We recommend that the HFEA requires all clinics to submit proposed new tests to the Genetic Testing Network, and that tests that have already been licensed should undergo the same assessment.

4. We welcome the requirement in paragraph 14.7 that each test and combination of tests requires a separate license from the HFEA. It is important that this requirement continues.

We also welcome the clear statement in section 14.10 against social sex selection.

5. Patient information

Sections 14.16 to 14.18 are lacking in certain key aspects which are needed to ensure that patients are fully informed about the conditions concerned. The general concern is that clinicians often have an out of date and unduly negative view of impairments in general and are not well informed about particular impairments and the experience of those living with the impairment. This may be because clinicians often see only the most severe cases, in a clinical situation. There is a need for doctors to be informed about the views of disabled people and this is particularly important in the case of PGD. The HFEA should require PGD specialists to undergo disability equality training.

Para.14.16 mentions ‘the risks involved in undertaking IVF’ however, this refers only to risks to the mother. In its recent statements on the Whitaker case, the HFEA suggested that there were possible risks to the embryo from biopsy, which could not be justified if there is no benefit to the embryo. If that is is the case, patients should be routinely informed of such risks.

Paragraph 14.17 should emphasise the need for patients to receive information from adult individuals with the impairment concerned, whenever this is possible, not just when the family has no experience of the impairment. Families with experience of the impairment may be surprised to find that others have less negative views of that impairment, and have found ways to coping with it well.

The ‘likely impact’ referred to in subparagraph 14.17ii should include explicit reference to the range of variation in severity of the impairment.

6. Clinical Decision Making

We are very concerned that this section of the Code does little to restrain the likely slippage towards the use of PGD for less serious impairments, and even non-pathological characteristics. There are two necessary factors to restrain such a tendency. The first is a clear understanding that seriousness is based largely on objective criteria. The second is the existence of formal mechanisms within the HFEA to monitor and restrain the trend.

We are very concerned that paragraph 14.22 states that ‘seriousness is………..a matter for discussion’. This implies that seriousness is a purely subjective concept, which depends upon individual perceptions. This, if accepted, would make it impossible to restrict PGD to serious conditions. We do not believe the HFEA thinks that seriousness is purely subjective. In our view while there is, of course, room for discussion of seriousness, it is also strongly based on objective criteria, such as whether the impairment is fatal, the likely lifespan of a person with that impairment, the degree of pain involved etc. There is an objective difference between cleft palate and Tay Sachs disease.

Paragraphs 14.22 and 14.23 conflate the questions of seriousness and overall appropriateness. While the former is (relatively) objective, there plenty of room for the discretion of clinicians and families, and for decisions appropriate to particular families, upon matters such as sub paragraphs (i), the view of the people, (ii) their previous experience, (vii) the extent of support and (viii) the family circumstances of the people. These paragraphs should be reworded to separate relatively objective from relatively individual factors, so they do not imply that ‘seriousness’ is a matter for discussion with entirely different outcomes to that discussion in individual cases.

In order to prevent the progressive expansion of PGD to non serious impairments it is important that the HFEA itself takes a view on the seriousness of conditions, (on the basis of all individual factors, such as particular family histories etc., being equal). This is not the same thing as establishing a fixed list of conditions, but it does imply that there are objective differences in the seriousness of impairments. In order to do this the HFEA must: 1) make judgements on seriousness and 2) establish a formal mechanism for monitoring and controlling slippage over time.

While we welcome the point made in paragraph 14.21 as an important brake on the expansion of PGD, current practice in prenatal testing, and especially, screening, leaves much to be desired. There are cases of prenatal testing for impairments as trivia as harelip, and even of termination after 24 weeks for such impairments. We recommend that the word ‘best’ be substituted for ‘current’ in paragraph 14.21.

As noted above, the list of parameters affecting consideration of seriousness in paragraph 14.23 is incomplete. It should include predicted lifespan and the variation therein, and whether the impairment is fatal. Pain is a more objective criterion than ‘suffering’ which depends on states of mind.

We would argue that people seeking PGD should also discuss the wider social implications of PGD, including the likely impact on disabled people in general. In order to undertake such discussions, a noted above, PGD practitioners should be required to undergo disability equality training.

7. Preimplantation genetic screening

As we have noted in our previous submissions to the HFEA, we believe that there is inadequate scientific evidence to justify the licensing of PGS. More importantly, introduction of PGS into general IVF is an example of the general trend towards ever increasing quality control in medicalised reproduction, which has not been called for by women or as a result of a democratic decision-making process. The HFEA should not be complicit in this socially harmful trend.

There may be a case for PGS in women who have a history of repeated miscarriage, family history of an aneuploidy, or several failed IVF treatments. These cases are analogous to PGD, in that there is a reason to suspect an increased risk in a particular individual. By contrast, whilst women over 35 may be at an increased risk, this is population screening rather than testing.

It is vital that preimplantation genetics be restricted to testing, rather than screening. Once PGS for aneuploidy is established, it will be logically impossible to reject demands for multiplex PGD, incorporating tests for a large range of conditions, not only in women undergoing PGD for a specific impairment, but for women undergoing routine IVF. The line between testing and screening in critical, and we therefore recommend that the HFEA delete paragraph 14.27 (i) from the Code.

We also recommend that aneuploidy testing cover only aneuploidies that have a very high likelihood of causing miscarriage, i.e. individuals with such aneuploidies are not viable.

We are surprised by the implication in paragraph 14.29 that genetic counselling is not compulsory in PGS. Given the variation in the prognosis for different aneuploidies, and the situation of such women, who may have to balance the chance of having a child with an impairment versus their low overall chance of pregnancy, we would expect genetic counselling to be compulsory.