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Commissioning and providing pre-implantation genetic diagnosis services

5 May 2009
By Dr Megan Allyse
BioNews Volunteer, following interviews with Dr Francis Flinter, Consultant Clinical Geneticist at Guy's and St Thomas' NHS Trust, and Dr Matthew Thalanany, Associate Director of Public Health, NHS South of England Specialised Services Commissioning Team
Appeared in BioNews 506
The Human Fertilisation and Embryology Authority (HFEA) has recently consulted on its 8th Code of Practice, which covered the implementation of the new Human Fertilisation and Embryology Act 2008 and thus included the classification of 'serious' genetic conditions for which embryo testing should be licensed; however, HFEA approval of individual tests is only the beginning of the long road to PGD for patients. Working within the NHS, in both the commissioning and service provision sectors, we have observed that approaches to PGD are inconsistent across Regions and frequently display a lack of understanding of the role and importance of PGD, and the effect that this can have on families who are at risk of transmitting serious genetic disorders to their offspring. Sometimes these misunderstandings have tragic results for individual patients. We believe the NHS needs to develop its understanding of PGD and harmonise methods of commissioning and funding PGD cycles. In particular, a policy which addresses PGD as an alternative to prenatal diagnosis, rather than an infertility treatment, would facilitate a more accurate and equitable approach to the provision of these services.

PGD has grown increasingly sophisticated over recent years, with an expansion in the number of conditions clinicians can now identify and an increase in diagnostic accuracy. Outside the clinical genetics community, however, there remains a perception of PGD as inextricably linked with IVF and the provision of infertility services. The reality is that although PGD requires an in vitro embryo in order to obtain a biopsy for genetic analysis, which may take place within the same clinical setting as IVF, the two treatments are offered for very different reasons. PGD patients are not, in general, infertile; indeed, many of them have already experienced a natural pregnancy. Instead, PGD patients are aware, either through their family history or, in more difficult circumstances, following the previous natural conception of an affected child, that they are carriers of one or more genetic conditions that may result in serious disability or death. Their goal is not only to have a child, but to have a child free from such conditions with the same chance of a long and healthy life as any other.

Thus, although PGD involves the use of IVF technology in the biopsy and subsequent replacement of an unaffected embryo, it is not a fertility service. It is one of the most efficient and cost-effective approaches we currently have for avoiding the long term suffering that may result from serious and debilitating congenital illnesses; but even within the NHS, this distinction is not universally understood. This uncertainty may be further compounded by the fact that, despite clear evidence demonstrating its ineffectiveness, aneuploidy, or preimplantation genetic screening (PGS), is still used by some IVF units in this country. PGS also involves the biopsy and chromosome analysis of embryos in vitro but with the intention of improving the outcome of IVF in older, infertile patients. In the USA and some other countries, PGS is also called PGD since they do not distinguish between preimplantation genetic testing for specific genetic conditions and aneuploidy screening in infertile couples.

Despite calls to standardise the allocation of funds for assisted conception treatment using IVF, significant variations remain in the way PCTs agree or decline to fund PGD. Even among those that commission IVF, some decline requests for funding of PGD outright, or use IVF criteria to make funding decisions, even when these may not be relevant. This results in patients who are aware that they are carriers of serious disease, for which the HFEA has already approved a diagnostic test, being told that their PCT will not provide funding for PGD in order to avoid the birth of an affected child. The reasons provided vary: we are aware of patients being told that they have not been trying to become pregnant for long enough, a common criterion in the funding of IVF but irrelevant for PGD. Of greater concern, more than one patient has been told by their PCT that there is an 'acceptable alternative' to PGD, namely prenatal diagnosis and the termination of an affected pregnancy. Regardless of one's personal views on the status of the embryo, it is troubling that termination of pregnancy is considered a preferable treatment option to PGD.

PGD is slightly more expensive than IVF. Without financial contributions from PCTs, many patients simply cannot afford to proceed. Some give up, but others go on to conceive affected children naturally. Apart from the deep psychological and physical effect this can have on the child, the parents and their family, it also has a profound impact on health costs to the PCT and the NHS in general; over the course of their lives, children affected with many of the conditions avoidable through PGD need intense and expensive medical care. There is also a fundamental inequity argument to be made here. We cannot control the distribution of genetic mutations which result in these diseases, but it is against the principles of the NHS, and our society more generally, to facilitate a state of affairs in which only those who are financially advantaged can choose to have PGD. Everyone deserves equal access to the hope of a healthy child.

The South East of England Genetics consortium has considered these issues on a regional level. It has initiated its own, independent PGD advisory panel to develop criteria under which PGD should be funded. Among the necessary pre-conditions are that the HFEA has issued a license to test for the condition, the risk to a pregnancy is equal to or greater than 10 per cent and the patient does not already have healthy children. We believe that although this model, which combines collaborative ethical review with concrete clinical guidelines, is not perfect, it provides a more equitable and efficient approach to the allocation of PGD services than the current post-code lottery.

Last year, the NHS recommended that all Regional commissioners should develop similar approaches to commissioning PGD services, but this has not yet happened. This leaves patients, and clinicians, struggling with waiting periods of up to 14 months, inconsistent funding decisions and the further anguish of lengthy appeals with variable success. Notwithstanding the frustration of clinicians, who work to prevent suffering and give patients the best care possible, this system generates huge inefficiencies and drains resources in clinical genetics facilities. We believe that it is time to bring PGD firmly into the realm of regional specialised commissioning, covered by proper commissioning policies and budgeted within Genetics contracts administered by the Specialised Commissioning Groups. As those who have observed firsthand the effect current policies towards PGD can have on individual patients and the NHS as a whole, we urge greater action in making concrete, equitable and clinically justifiable decisions on the funding of PGD services.

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