Commercial Cystic Fibrosis Testing: Is Information Power or is Ignorance Bliss?¹

© 1998 Bryn Williams-Jones (brynw@ethics.ubc.ca)

Cystic fibrosis (CF) is an inherited, recessive disorder that is especially common in Caucasian populations (affecting 1 in 2500). For a child to develop CF, he or she must inherit two defective copies of the CF gene (one from each parent). But if a person only has one copy of the faulty gene (and one normal copy), then they are a ‘carrier’ – they do not have the disease, but they are at risk of passing it on to their children. One in 25 people in the UK and 1 in 29 Americans will be carriers. If a couple has a child and one parent is a carrier, then the children may also become carriers and live completely unaffected lives. But if two carriers have a child, then there is a 25% chance the child will have CF; a 50% chance the child will be a carrier and a 25% chance the child will not have the faulty gene.

This is a really unpleasant disease. It usually appears in early childhood, and people with CF live, on average, into their early 30s. Cystic fibrosis is caused by a problem with the gene that regulates the transport of sodium and chloride from within the epithelial cells to the cells’ outer surfaces. The result is that the body produces abnormally thick and sticky mucus that clogs the lungs, resulting in heavy congestion, difficulty breathing, and infection; CF also causes obstruction of ducts in the pancreas, impairing enzyme secretion and transfer to the intestines, thereby preventing proper digestion of food. There is currently no cure for CF, although there have been some attempts at gene therapy. Treatment depends upon which organs are involved and the stage of the disease, but usually entails daily physiotherapy to help clear the lungs and a modified high nutrient diet to overcome the pancreatic deficiency.

The faulty CF gene was discovered in 1989 and a DNA diagnostic test was developed that can determine if one has CF. A carrier screen is now also available that can tell a person whether they are a carrier of CF. This test uses a simple mouthwash that can be taken at home and then be sent by mail for analysis, producing results in 5 working days. It requires no physician involvement and is guaranteed to be completely confidential. University Diagnostics Ltd sends the results with an information package explaining the condition and its implications, and also provides an opportunity for a free consultation with a geneticist.

So what is so cool about this test? To begin with, the fact that you can get a genetic test with a simple mouthwash (not even a blood sample is needed) is impressive. Second, this test is designed to be a consumer technology, so you can send in a sample for evaluation through the mail – no visit to the doctor’s office required. Third, you obtain your results in a week, which is pretty quick when you consider that getting results from genetic testing through a clinic may take months.² This test gives the consumer complete privacy and control over personal information that is normally only obtained with the participation of team of clinicians in the health care system. There is no need to explain your feelings or reasons for wanting testing, no testing criteria to be met, and no months-long waiting lists for counselling and testing – your reasons are your own business. Further, you get this information at a price that you can likely afford (£65UK, $165Cdn, $107US). The University Diagnostics Ltd CF test gives the average consumer access (in the privacy of their own home) to detailed information about aspects of their own genetic heritage that was previously unavailable to them without the aid of the medical system. The control of and access to this information has, in the case of CF testing, shifted from the medical community to the individual consumer – an unprecedented occurrence with respect to predisposition genetic testing or carrier screening.

As a potential consumer and test subject, it is critical to consider the possible psychological and familial implications of taking such a test. At this moment, I know that I technically have a 1 in 25 chance of being a carrier because I am white and of UK decent. But I don’t feel like I’m at risk. If I were to take the test and receive a negative result (i.e., not a carrier of the faulty CF gene), the risk would be eliminated for all intents and purposes (although the test is only 80-90% effective and it will miss some of the rarer mutations). On the other hand, if I receive a positive result and learn that I am a carrier of CF, I now have information that may affect the way I see myself as a person. This knowledge may lead me to believe that I am less healthy because I carry a defect that, while not affecting my own health, can have serious – potentially devastating – consequences for any children I may decide to have. In other words, this simple test may have profound implications for the way I think about myself, e.g., as a healthy person, potential parent, etc.

We must not forget, however, that personal information can also affect others. The nature of genetic information is such that, while it can be intensely personal (as it says something about one’s basic characteristics, potential for illness, etc.), it is also familial because it is shared by one’s family and relatives – CF is an inherited disorder. In my particular case, receiving a positive or negative test result will also determine whether my identical twin brother has the gene. The test will have some impact on my parents, because if I am found to be a carrier, then one of my parents must have passed the gene on to me, which might be devastating knowledge for parents to deal with, e.g., because of a sense of guilt at having passed on faulty genes. Due to the obvious familial implications of CF testing, one may well feel obligated to think about how such information would affect one’s immediate (and future) family. Now, a person might decide that such information is too intensely private and therefore none of anyone else’s business – ‘they’re my genes and I’ll learn about them if I want!’ But one cannot avoid at least having to consider the broader consequences of one’s decision.

It is also important to realise that the potential damage or harm caused by learning carrier status is neither automatic nor inevitable. In fact, such information may have absolutely no negative consequences for an individual or their family – this will depend to a great extent on emotional and psychological makeup, and the importance that people attach to this information. One should thus avoid the temptation to make broad generalisations about whether commercial testing of one sort or another will be ‘inherently’ or ‘obviously’ harmful to people – the truth is that we simply don’t know how specific people will take such information.³

The results of the CF test might also influence the way a person thinks about future reproductive decisions. If I test positive for the CF gene, and am at all concerned by the outcome of this illness, then I have to think seriously about whether I want to risk having children born to endure such pain and suffering. This may influence a person to forego ever having children, or alternatively, put the individual in the awkward position of feeling obligated to ask potential partners to be tested. What would a couple decide if both were found to be carriers? Would they feel different if only one of them were found to be a carrier? If a couple decided to conceive a child, they would then be faced with the choice of whether to have prenatal diagnosis, and possibly an abortion in the event that the fetus was found to have CF. Thus information about CF carrier status can raise many complex reproductive issues that do not lend themselves to easy or obvious solutions. But as was mentioned above, a person’s carrier status may have no impact at all on their life – it will depend on how the person values the information and incorporates it into their world view.

The commercial CF test raises some fundamental dilemmas for individuals interested in testing. They must consider whether the information will be useful to them, and more importantly, whether the benefits of knowing will outweigh the potential harms. They should think about whether not knowing their carrier status might be more beneficial. A person should also realise that in acquiring this knowledge, they will be faced with deciding whether they feel obligated to share the test results, and if so, with whom.

Was it irresponsible for me to open up this can of worms just to satisfy my academic curiosity? Would people not be better served if they simply purchased (or ignored) the commercial CF test without having to worry about the issues that I’ve raised? The short answer to both these questions is ‘No.’ Commercial genetic testing is a reality, its here to stay, and there are likely to be more commercial tests on the market in the near future. Like any new technology, genetic testing is not value neutral. It carries with it, by its interaction with and use in our lives, costs and benefits that must be evaluated. I am studying this technology and its ethical implications partly out of academic interest, but primarily because I believe that there is far too little known about the effects, both positive and negative, that this technology can have on individuals and families. If we are going to be able to maximise the benefits and minimise the harms of commercially available genetic technology (and the information about us that it provides) then we must take the time to fully understand all the aspects of its use and its results.

For more CF information, see the Cystic Fibrosis Trust. For a general discussion of issues surrounding genetics and ethics, see the Genetics & Ethics page.

NOTES:

¹ Thanks to Chris MacDonald for suggesting that I review this technology, and for his extremely helpful comments.

² Easy access to testing that provides rapid results is likely to become the norm. There are genetic technologies on the horizon, e.g., DNA chips, that can scan a sample (a small pin prick of blood or saliva) with hundreds and potentially thousands of probes, and could allow for testing of a range of inherited diseases; within one disease gene, a chip might be able to test for all the known mutations. The tests can be performed in minutes and hours, instead of days and weeks. DNA chips are also becoming affordable for laboratories (in the $100 range for some tests), thus there is the potential for DNA chips to move into the consumer market as well (Wickelgren, I. 1998. Gene Readers, Popular Science, Nov., p. 56-61).

³ There is a wealth of literature on the emotional and psychological aspects of genetic testing, and the presumption is that genetic counselling should be required as a standard of care for any form of predisposition or carrier testing. But the purported positive benefits of requiring genetic counselling have never been empirically tested, and thus it should at least be open for discussion whether or not such counselling is required. Nevertheless, the existing standard of care in the medical community is such that publicly funded genetic testing will be offered only in accompaniment with genetic counselling. Similarly, there will be a great deal of pressure on private genetic testing companies to ensure provision of genetic counselling.