IntroductionDr Susan Kelly explores the implications of the deleopment of new forms of prenatal tests for genetic disorders.
Currently, prospective parents wanting a prenatal diagnosis of an inherited genetic condition are offered an invasive procedure such as amniocentesis that carries some risk. Recent advances in genetic technologies mean that it is becoming possible to diagnose a variety of genetic conditions in a fetus in a way that avoids the need for invasive procedures. Diagnostic tests on maternal blood samples performed as early as 6-8 weeks into pregnancy for conditions like Down Syndrome are under development and are expected to be available to parents within five to 10 years. Similar maternal blood tests for a small number of medical conditions are now available in some places, while maternal blood tests for paternity and fetal sex identification are already available on the internet. These prenatal tests use procedures that target fetal DNA fragments that circulate in the mother’s blood and appear early in pregnancy. Other tests under development target whole fetal cells, that would provide access to all of the fetus’s genes for diagnosis. It is possible that in the future such tests will replace current methods of fetal genetic diagnosis, or the less accurate methods of screening pregnancies that only indicate whether a higher probability of a condition exists. That is, single-step, non-invasive definitive diagnostic tests for conditions such as Down Syndrome are likely to be available in the relatively near future. And these tests could be of use in two types of prenatal care: specialist genetic services for families at risk of inherited genetic diseases, and routine prenatal testing for all pregnant women. A third possibility involves prenatal genetics tests made available directly to consumers, in which a sample of the mother’s blood is sent to a commercial laboratory for analysis.
Although the development of new methods of non-invasive prenatal diagnosis (NIPD) has clear healthcare benefits, the introduction of this method of prenatal diagnosis also brings with it a number of ethical concerns. While NIPD has the advantage of allowing testing of fetuses without health professionals and prospective parents having to consider the procedure-related risks of traditional prenatal diagnosis, of concern is that NIPD may undermine parents making informed choices if such testing is presented in a similar way to screening tests (that is, tests that don’t provide a definitive diagnosis).
But it is far from clear how much members of the public know about these emerging testing procedures, and how they might view them. At Egenis, we have conducted research to find out what the public thinks about the possibilities offered by such tests, as they are being developed but before they become widely available. Are they viewed as a quicker and easier way to identify genetic disorders before birth, or the thin end of the wedge in a culture that desires 'perfect' babies? Are they viewed primarily as improvements in reproductive health care, or as creating a moral dilemma for all prospective parents? Do these procedures raise new ethical or social questions, or merely follow an existing societal consensus?
Some commentators on NIPD have suggested that current prenatal screening and testing practices rest upon a settled ethical consensus regarding their value to parents, and that emerging tests raise no new issues. Another literature, of which my prior research forms a part, suggests that such a societal consensus, should it exist, covers a complex set of positions and values. In our study, therefore, we sought to access and examine people’s attitudes in a general population sample.
The study asked participants to sort a set of statements about non-invasive pre-natal testing to reflect their views. They were also asked to comment on the statements, drawing on their personal experiences and beliefs about pre-natal testing in general, disability, and related concerns.
We have, as yet, only preliminary findings, but it is already clear that there is no settled consensus on this issue. The views expressed were quite polarised. Many people see earlier and easier testing as a great thing, offering potential parents better information and improving both their options and their access to healthcare. Yet many others are worried that the new tests carry significant dangers, of those same choices being ill-informed, of greater opportunities for government or clinical interference, and of a sharp rise in the terminations of pregnancies. Many participants raised the question of limits – on what is tested for, and by whom.
There is another, related issue. The debate about prenatal genetic testing can centre on testing carried out in a clinical setting, where potential parents are more likely to be informed about the meaning of the test results and the implications of those results. The NHS has put a great deal of effort into making this the case. But in fact, when new tests are developed they will not be restricted to clinical settings. Do-it-yourself fetal sex-identification tests are already available over the internet, and the new tests will certainly find their way into the marketplace. The implications of prospective parents buying and using such tests without support, without access to counselling or even to full information about the meaning of the results are very serious. How should the internet market be regulated, if at all?
The most crucial thing, as new testing technologies are introduced, is that people are informed about issues they may raise and the clinical choices they may be making. Holding open, public discussions in which diverse views can be debated is an important step toward meeting this challenge.