26 January 2010
The Human Fertilisation and Embryology Authority (HFEA), which regulates clinics providing prenatal genetic diagnosis in the UK, is reportedly in the process of considering which disorders to add to the list of permissible conditions. For a clinic to be able to offer PGD as part of in vitro fertilisation (IVF) – identifying and selecting for implantation only those embryos that do not carry a specific genetic disorder – the HFEA must agree that the condition in question is sufficiently serious. For some conditions, approval is only given on a case-by-case (as opposed to clinic-wide) basis.
In recent years, there has been some controversy over decisions by the HFEA to allow PGD for conditions that are adult onset or do not necessarily affect all those with the disease gene, such as hereditary forms of breast and colorectal cancer (see previous news), and for conditions for which there is effective treatment (see previous news). In making decisions, the HFEA takes into account factors such as the seriousness of symptoms, age of onset, variability fo symptoms between affected individuals, the availability of treatments and how invasive those treatments are.
This is a serious misrepresentation of potentially very serious conditions likely to anger affected families, whether or not they themselves would wish to used PGD to avoid the birth of an affected child. For example, over one third of people with Marfan Syndrome die in early adulthood, according to the Marfan Society, whilst half of those with beta-thalassaemia die before 35 (see HFEA website).
Whilst it is true that for some genetic conditions, the severity of symptoms can vary widely between affected individuals, it is not possible to predict how badly people will be affected – which is why termination of pregnancies where the fetus is diagnosed with a potentially severe condition is permitted at any stage of pregnancy in the UK. Equally, expanding the use of PGD requires careful consideration and raises potential ethical issues, particularly if the prospect of screening prospectively for multiple different conditions (as opposed to a specific condition already known to affect the family in question) were to become closer.
However, portrayal of unambiguously serious genetic disorders as ‘minor’ is either ignorant or disingenuous. The striking similarity of the pieces, despite having different authors, suggests that this inaccuracy could have originated elsewhere, but is nevertheless disappointing.