UCL Centre for Ethics in Women's Heath, London
28 June 2016
I'm currently studying for a PhD at UCL, and this panel debate was held just a stone's throw from my lab. But the topic – genetic screening and respect for persons – was far removed from my own work in cell biology.
The discussion centred around new advances in prenatal testing, in particular non-invasive prenatal testing (NIPT), and the impact these developments will have on women, their partners and on people living with genetic conditions.
Until recently, genetic testing of fetuses required invasive techniques such as amniocentesis to collect amniotic fluid samples containing fetal cells. Such techniques carry a risk, albeit small, to the fetus. NIPT relies on the fact that small amounts of fetal DNA are present in the mother's blood, and this can be collected and analysed for aneuploidies (where there are more than the usual number of chromosomes), such as trisomy 21, which causes Down's syndrome. As the name suggests, these tests are non-invasive and carry no risk to the developing fetus.
Dr Dan Reisel, research associate at the Institute for Women's Health at UCL, chaired the panel. In his introduction he highlighted some of the problems with NIPT. In particular, concerns have been raised about the accuracy of results and the lack of genetic counselling to help expectant mothers understand the results and their implications.
He and the other panellists emphasised that NIPT is just a screening test, not a diagnostic test. Screening tests tend to be simple but highly sensitive, and often result in high rate of false positives. Diagnostic tests, such as amniocentesis, would still be required to confirm whether the fetus has a genetic condition.
However, NIPT has been shown to be more accurate than existing blood screening tests for detecting Down's syndrome and its introduction into the standard NHS screening programme for pregnant woman has been recommended (see BioNews 835).
Jane Fisher, director of the charity Antenatal Results and Choices, highlighted the lack of information women are faced with when receiving a prenatal diagnosis, especially surrounding the 'quality of life' a person with a genetic disorder may expect. Whether or not a woman believes her child would have a good quality of life is a strong determining factor in whether she decides for or against terminating a pregnancy.
Professor Tom Shakespeare, a disability researcher at the University of East Anglia, addressed the issue from a personal as well as an academic perspective. He explained that, although he himself has a disability, it hasn't stopped him from getting married and having children – demonstrating the normal life that someone with a disability can hope to have. However, he did point out that society is not built for, and does not support, people with disabilities. There were few dry eyes after his moving presentation. Professor Shakespeare emphasised the importance of offering information to prospective mothers at all stages – before, during and after carrying out genetic tests.
Just before the floor was opened for questions, the fire alarm went off in the building and we had to evacuate. On our return, the discussion focused on how health professionals can help women to make informed choices.
Throughout the debate, it was evident that 'choice' in this context is multifaceted and has many layers. From the moment a woman finds out she is pregnant, she is faced with a multitude of medical decisions that shape her pregnancy. The key message was that women value having the choice of the option to screen, and professional support is crucial at all levels. It is imperative that a woman understands her options, and is reassured that her fetus is protected.
Before I attended this event, I was unaware of NIPT and the discussion surrounding it. After listening to the discussion, I was intrigued to hear more about this complex subject. I may even sign up to the Institute for Woman's Health free online course 'Making Babies in the 21st Century', which explores new reproductive technologies and their social impact. One of the recurring messages of the event was that women need more education on the different genetic testing techniques. After the event, I certainly felt better informed myself, and I'm sure this would be useful to me should I choose to start a family in the future.