The JRC: tracking trends in preimplantation genetic diagnosis
Preimplantation genetic diagnosis (PGD) is increasingly being used by parents who want to avoid passing on genetic diseases to their children. The European Commission's Joint Research Centre (JRC) organised a workshop on this often controversial topic at the Annual Meeting of the American Association for the Advancement of Science in Chicago, US.
The JRC's Dolores Ibarreta, who has been monitoring trends in PGD in Europe for some years now, was one of the speakers at the session. Before leaving for the US, Dr Ibarreta spoke to CORDIS News about her work.
PGD entails carrying out genetic tests on embryos in the lab to identify those that have a healthy version of the gene in question. These embryos are then implanted in the mother's womb. For example, in a recent UK case, a family with a history of breast cancer had embryos tested for the BRCA1 gene. Women carrying a defective BRCA1 gene have a much higher risk of developing breast cancer. The daughter born following PGD does not carry the defective gene and so is less likely to contract breast cancer than her other female relatives.
The JRC produced a report on PGD in Europe a couple of years ago, revealing that around 50 centres across Europe offered PGD services, testing for a wide range of conditions. A large number of patients treated at these centres came from abroad, either because the service there was cheaper or because their own country's regulations forbade PGD. Worryingly, the report highlighted poor follow-up of couples and an absence of quality assurance schemes. So what has changed since then?
'When we wrote the report, the EU directive that covers PGD was not in force, so some of the problems detected are on their way to being improved,' Dr Ibarreta told CORDIS News. For example, centres providing these tests now have to be accredited. Furthermore, work is currently underway to develop a PGD-specific quality assurance scheme, she added.
Recent years have also seen a step-up in the number of tests offered, particularly for adult onset diseases, such as Huntington's disease, or genes which are linked to an increased risk of cancer, Dr Ibarreta explained. She also expects that this trend will continue.
Some have expressed the concern that PGD could lead to large numbers of 'designer children', but Dr Ibarreta thinks this is unlikely. 'People who want children [following PGD] want to prevent disease,' she explains, noting that in any case these procedures are tightly regulated across Europe. 'People are willing to accept PGD for disease prevention, but I don't think it will go beyond that. When you do PGD, you have to do in vitro fertilisation (IVF). It's a difficult technique; you need to give hormones to the mother, so I think unless people know that they have a family condition, they won't go for PGD.'
There are also unsupported concerns regarding the effects of PGD on the positive influence of some genetic anomalies on our health. For example, people carrying one copy of the cystic fibrosis gene have a greater resistance to cholera and other intestinal diseases, while carriers of the Tay Sachs disease gene have enhanced protection against tuberculosis.
Meanwhile, Dr Ibarreta says that more research is needed to track the rapid growth in PGD services and to evaluate the long-term health of children born following PGD.
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Data Source Provider: CORDIS News interview with Dolores Ibarreta
Document Reference: Based on a CORDIS News interview with Dolores Ibarreta
Subject Index: Coordination, Cooperation; Healthcare delivery/services; Medical biotechnology; Medicine, Health; Scientific Research; Social Aspects