Preimplantation Genetic Diagnosis and patient mobility
Preimplantation Genetic Diagnosis (PGD) - a technique of high interest to rare disease patients - offers an interesting case of patient mobility.
PGD involves taking one cell from an early-stage embryo grown in the laboratory, and genetically testing it for a list of conditions that includes many rare diseases. Using PGD, unaffected embryos can be selected for transfer before pregnancy starts; the need for a selective abortion after prenatal diagnosis is therefore avoided.
PGD, like other genetic technologies involving the embryo, is the source of ethical, sometimes heated, discussions. The exceptional use of PGD for choosing the sex of a child or for giving birth to a second child with compatible cells (for a sick sibling) has been heavily criticised. As a result, the legal situation of PGD varies per country. In Spain, the Regulation of 22 November 1988 on Assisted Reproductive Technologies allows the use of PGD, on the condition that it be used solely to detect if the embryo is viable or does not carry life-threatening hereditary diseases. Other countries where PGD is legal include Denmark, France, Norway, and Sweden. Some countries do not have a specific law or regulation on PGD; as a consequence, it is allowed (but the situation is not always clear-cut); Belgium, Greece and the United Kingdom are in this case. The situation is entirely different in Germany, where PGD is illegal. The Regulation of 13 December 1990 on Protection of Embryos stipulates that the embryo must be protected from the start, and since PGD consists in choosing specific embryos to be implanted in the womb, the Regulation could not be respected. Several German professional organisations and patient groups are favorable to a change in the Regulation to allow the use of PGD in severe cases and within a strict framework, but they have not been heard yet. Other countries where PGD is banned include Austria, Ireland and Switzerland.
As a consequence of strict regulations in some countries, patients cross borders to benefit from PGD. For example, many German patients travel to Belgium and Spain. In the latter, many clinics specialised in assisted reproduction have foreign patients for customers. Some have even developed an international department with staff fluent in French, German or English. The European Commission has funded a study on PGD and cross-border care, the results of which were summarised at the annual meeting of the European Society of Human Reproduction and Embryology in July 2007. Mr James Lawford-Davies, a solicitor specialising in reproductive and genetic technologies, who presented the results, said that ‘the main reason couples travelled to other countries was because PGD was banned in their own. But this led to concerns over how referrals were made and the quality (or even the existence) of counselling, medical advice, support, monitoring and follow-up for families and their children. Other reasons for travelling abroad included the quality of the treatment, test availability, expertise in certain diseases, cost, and length of waiting lists in their home countries. The prohibition of PGD in their own country also complicates monitoring and follow-up for patients. Self-referred patients, who may have identified clinics via the internet or other means, often travel for treatment without medical advice, and clinics in their home countries could be reluctant to get involved in following up families and children born as a result of prohibited treatment.’
Eurordis has been advocating for rare disease patient mobility in Europe for a long time, an issue closely linked to our ongoing policy development on centres of expertise and European reference networks for rare diseases. We will continue to fight for the right of all rare disease patients to access proper healthcare wherever they are in Europe.
This article was previously published in the January 2008 issue of our newsletter.
Author: Jerome Parisse-Brassens
All photos except ultrasound © MyJayKay
