Better information required on genetic testing of IVF embryos, study finds
Low fertility rates in many of the European Union countries have given rise to ageing and shrinking populations. In vitro fertilisation (IVF) offers a solution to this increasing problem. However, this is no easy solution, and health problems can occur in infants. A new report recently released by the European Commission's Joint Research Centre (JRC) found that patients need better information on the genetic testing of embryos produced using IVF.
For all parents, the health and well-being of their children is of the utmost importance. Parents who realise that they are at risk of transmitting a specific genetic anomaly usually undergo pre-implantation genetic diagnosis (PGD). However, new research has revealed a discordant European approach to this issue, which may be leaving parents in the dark.
Lack of information identified
During a workshop in 2005, it became evident that there was a general perception that quality assurance for these services was lacking, and this could lead to problems. What was needed, according to the organisers, was a clear and concise picture of PGD practice and provision in Europe.
Organised by the Institute for Prospective Technological Studies (IPTS) of the JRC, the European Society of Human Genetics (ESHG) and the European Society for Human Reproduction and Embryology (ESHRE), the workshop was intended to focus on the interface between genetics and reproduction in healthcare. Instead, more questions were raised, such as the impact that different Member States' regulatory frameworks might have on these services.
In order to answer these questions and more, the IPTS, in collaboration with the European Science and Technology Observatory (ESTO), launched a study to fill the knowledge gap that exists on provision of PGD services in the EU. And according to the report, there is much work to be done.
Improvements in quality needed
Published in December 2007, the report shows that urgent guidelines are needed for the counselling of patients opting to screen their IVF embryos for serious genetic disorders, and there is also a need for specific quality assurance schemes. This procedure involves genetic testing of embryos generated in vitro, with the aim of identifying embryos which are normal in terms of the anomaly in question and are therefore suitable for transfer. For example, PGD tests embryos for conditions such as Huntington's, haemophilia and cystic fibrosis before they are implanted in the mother.
As the first ever report to give a full picture of this practice at European level, it shows that PGD is a well-established practice in many Member States, but that related regulations, practices, professional standards and accreditation requirements can and do differ widely across Europe.
The majority (94%) of centres surveyed offer genetic counselling. What remained unclear, however, was whether counselling actually took place. And while most centres require the informed consent of the patient, many do not carry out a follow-up of the test performed, as is recommended in informed consent guidelines.
Another area where improvement is needed, according to the report, is in the area of quality assurance. Only half of the centres reviewed have a designated quality manager and just a third participate in external quality assessment (EQA) schemes. Unfortunately, there is no EQA scheme designed particularly for PGD tests - there is therefore a clear need for the development of EQA schemes specific to PGD. This will ensure that the related technical aspects, interpretations and reporting of the results are properly assessed and comparable.
The study concludes that there is a need for more long-term studies into the impacts of PGD, not only during pregnancy and at birth but in the medium and long term. Data produced from this monitoring will provide a wealth of information about safety and efficacy, both in terms of clinical and cost effectiveness.
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