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Brussels, 7 December 2007

Parents need better information on genetic testing of IVF embryos

A new report by European Commission scientists shows that urgent guidelines are needed for the counselling of patients that opt to screen their embryos created by in vitro fertilisation (IVF) for serious genetic disorders, and there is a need for specific quality assurance schemes. Preimplantation genetic diagnosis (PGD) is the practice of testing embryos for conditions such as Huntington's, haemophilia and cystic fibrosis before they are implanted in the mother. As the first 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 regulations, standards and accreditation requirements can differ widely. The report, drawn up by the Commission's in-house scientific service, the Joint Research Centre, in co-operation with a number of European research centres, will help provide more knowledge and information about current PGD services.

The main findings of this study result from a survey submitted in 2006 to over 160 centres across Europe potentially performing PGD. The survey identified 53 centres offering PGD in 16 EU countries and Switzerland, most of them located in Spain, Belgium, Czech Republic, Greece and the United Kingdom. In a later stage, to deepen and sharpen the survey’s results, the authors of the study held nearly 30 interviews with PGD specialised personnel of these centres.

Some of the report’s main conclusions are:

  • PGD is an expanding activity in Europe with increasing social implications. The most frequent types of test offered included tests for diseases and conditions such as Huntington's disease, haemophilia, muscular dystrophy and cystic fibrosis. PGD is also performed for several cancer predispositions and it is also applied to histocompatibility (HLA) typing which identifies suitable donors for stem cell transplants.
  • Patients travel within Europe for PGD, mostly for legal and financial reasons but also because of (non-)availability of the test at home. The main receiving countries are Spain, Belgium and the Czech Republic, treating parents that come from other EU countries, but also from the United States, Lebanon and Israel.
  • The sources of information used by parents when accessing a preimplantation diagnosis treatment in another country vary. In some cases, the main sources are websites of in vitro fertilisation (IVF) clinics, other parents previously treated and medical genetics services of the country of origin. In other countries, there are no formal referrals by doctors, as it is unclear whether this practice is allowed or not. This difficulty in accessing reliable medical advice, sometimes dealing with a different language and a different healthcare system, can put potential patients in a vulnerable position.
  • 94% of the centres require the informed consent of the patients and offer genetic counselling, although it is not clear whether such counselling is actually given. Moreover, while the informed consent recommends the follow-up of the PGD performed, the study found that centres do not consistently do this. In addition a proper assessment of the outcome of the treatment in the medium and long term would help establish its safety and quality.
  • Finally, the study looks into the level of quality assurance of the centres, assessed through indicators such as the presence of a quality manager on the staff or the participation in external quality assessment schemes. Results show that only half of the clinics and laboratories have a quality manager among their staff and, although the majority of centres rate external quality assessment as relevant, only one third of them actually participate in external quality schemes.
  • At EU level, the most significant legislation affecting PGD provision and regulation is the Human Tissue and Cells Directive (Directive 2004/23/EC of 31 March 2004), which introduces a wide range of quality and safety requirements that clinics have to implement and which had to be brought into force by Member States not later than 7 April, 2006. The survey, which was carried out during this period, suggests that many EU clinics still had considerable work to do in order to meet its requirements.

The full report and can be freely downloaded from:

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