Patients need better information on genetic testing of IVF embryos, study finds

Patients need better information on the genetic testing of embryos produced by in vitro fertilisation (IVF), according to a new report by the European Commission’s Joint Research Centre (JRC),
the scientists also found that many centres offering such tests do not make use of quality assurance schemes.

Preimplantation Genetic Diagnosis (PGD) involves testing embryos for genetic conditions before they are implanted in the mother. The study revealed that PGD is most frequently used to test for
conditions such as Huntington’s, haemophilia, muscular dystrophy and cystic fibrosis. However, it is also used to test for genes relating to cancer predispositions and for histocompatibility
(HLA) typing, which identifies suitable donors for stem cell transplants.

In total the researchers identified 53 centres offering PGD services spread across 16 EU countries plus Switzerland. The majority are located in Spain, Belgium, the Czech Republic, Greece and
the UK. With such an uneven distribution of PGD centres across Europe, it is unsurprising that many patients travel within the EU to access these services, with most travelling to Spain,
Belgium and the Czech Republic. Centres in these countries receive patients from across the EU as well as from the US, Lebanon and Israel.

Most of these patients opt for treatment abroad for legal and financial reasons, but also because of the non-availability of the test at home. They obtain information on PGD from a range of
sources, including the websites of IVF clinics, other parents who have been treated and the medical genetics services of the country of origin. The report warns that difficulty in accessing
reliable advice, coupled with having to deal with a different language and healthcare system, can put these cross-border patients in a vulnerable position.

The majority (94%) of centres surveyed offer genetic counselling. However, it is not clear whether such counselling is actually given. Furthermore, 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.

Quality assurance is another area where improvement is needed, according to the report. Although most centres describe quality assurance work as important or very important, only half have a
designated quality manager and just a third participate in external quality assessment (EQA) schemes.

Currently, there is no EQA scheme designed specifically for PGD tests. ‘This points to a clear need for development of EQA schemes specific to PGD (or for adaptation of existing schemes) to
ensure that the related technical aspects, interpretations and reporting of the results are properly assessed and comparable,’ the report states.

At European level, PGD services must comply with the 2004 Human Tissue and Cells Directive, which requires that ‘each tissue establishment puts in place and updates a quality system based on
the principles of good practice’.

According to the study, few clinics meet the criteria set out in the technical annexes of the directive. ‘The findings presented in this report suggest that many EU clinics will have
considerable work to do in order to meet the requirements of the EU Human Tissue and Cells Directive,’ the report reads.

The study also highlights the 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. ‘Such monitoring provides a
wealth of information about safety and efficacy, in terms of both clinical- and cost-effectiveness,’ the authors write. ‘It can also help to improve understanding of the impact that PGD
treatment has on families and their children.’

Currently even short-term follow-up of patients is rare, and just one centre in Belgium carries out systematic long-term follow-up. Lack of expertise and the cost of such activities were cited
as the main reasons for the lack of follow-up in most centres. Given the small number of children born following PGD, an international study is needed, the report states.

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