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Haste Makes Waste: Attending to the Possible Consequences of Genetic Testing
By: Kenna Miskelly

July 31, 2007


Technological advances are making genetic testing and screening easier and more accessible. My concerns are that the ease and accessibility are masking the fact that these are not straightforward decisions that should be made quickly. Such decisions may include whether or not to terminate a pregnancy if your fetus has Down syndrome, whether to have prophylactic surgery if you test positive for breast cancer genes, whether to be tested for a late onset disease that may have no treatment or cure, and whether or not to submit to genome testing without knowing what the future will hold in terms of discrimination and possible privacy threats. The reasons for genetic testing have real world consequences that are often not spelled out before the testing takes place.

A recent article in the Globe and Mail discusses new recommendations that pregnant women over the age of 35, but under the age of 40, should no longer undergo routine amniocentesis. It has been standard practice that amniocentesis be available to women over the age of 35 because the probability of conceiving a child with a disability or genetic condition increases with maternal age. New non-invasive screening tests such as maternal blood tests and the nuchal translucency test (a detailed ultrasound taken at 11-13 weeks gestation that measures the fluid levels behind the fetus’s neck) can now indicate whether further testing is indicated or whether the risk of abnormalities is low. This development is very positive as amniocentesis is invasive and carries with it a risk of miscarriage.

However, the article states, “40 is the new 35 when it comes to being labelled a high-risk pregnancy.” [1] The implication here that is repeated several times throughout the article is that pregnant women who are over 35 no longer have the same risks associated with this maternal age; it seems that somehow their risks have decreased, which is not true.

As well the article quotes a physician stating,

“Even if you’re over 40, your risk may be that of a 20-year-old. Screening is making you different from your age.” [2]

Obviously the screening tests are a positive medical advance. Yet coupled with the misleading implication that risks have somehow decreased, what we see here is often the case: the language of genetic discoveries and genetic technologies seems to support a “wait and see” attitude – find out what the testing tells you, then decide what to do. It sometimes appears a bit like a lottery.

Francis Collins, direction of the National Human Genome Research Institute has mentioned that genetic technologies are much like new drugs – we must see what the general reactions are to them after they are first introduced. And many authors advocate that we should work to address concerns as they appear, as opposed to limiting technological advances with unnecessary policies. This is not to confuse the “wait and see” attitude of the researchers developing the technology with the “wait and see” attitude of the doctor performing the testing – they seem to be on a continuum.

Sonia Mateu Suter notes from her research as a genetic counsellor for prospective parents, “little emphasis is placed on the many emotional and psychological ramifications of undergoing such testing, leaving patients unprepared for certain choices and emotional reactions.” [3] She feels that this has “impoverished the informed consent process”. [4] Likewise, a “wait and see” attitude ultimately diminishes autonomy because we are not able to make choices we might have made if we had a comprehensive understanding of all the options and consequences.

Much is unclear as new technologies emerge. What we do know is that the vast majority of those individuals at risk for Huntington’s disease choose not to be tested for the HD gene. A child whose parent has had Huntington’s has a 50% chance of inheriting the gene and developing the disease. There are no cures or preventative measures. Yet at-risk individuals also have a 50% chance of not inheriting the gene and never developing Huntington’s disease. The choice not to be tested struck me as surprising until I read the stories of those at risk and those living with the knowledge that they are carriers. Some of the stories such as Katharine Moser’s (http://www.hdfoundation.org/news/NYTimes3-18-07.php) really put in perspective what it must be like to live with the end of your life before you. She had prepared herself with the requisite six months of counselling when she decided to be tested at age 23, yet admitted she never really believed the test result would be positive. Is it fair for certain people to live this way when no one’s future is certain?

Many would say that genetic testing for other conditions such as Alzheimer’s disease or Multiple Sclerosis, which may become reality in the near future, are not on par with testing for the HD gene. Likely such testing will be in terms of probabilities rather than certainties, such as the current testing for the breast cancer genes – a positive test translates into an increased risk for developing breast, uterine, and ovarian cancer but does not mean a woman will get any of these for certain. Nor does it mean that a woman without these genes is immune to these illnesses. Most likely this difference is part of the reason that intensive counselling is often not part of the testing process, though many acknowledge that the system would be improved if it were. Yet I wonder what the idea of an “increased risk” will mean to people and their families, especially for diseases with no known cure? What will the consequences be for them? Will it be easily accepted as a “probability” – something to think about or watch out for – or will they feel that the die is cast, and they cannot escape their fate? It seems that the outcome will be based on each situation and individual, which underlines the inappropriateness of the “wait and see” attitude.

As testing advances, home testing, where an individual sends a sample away and waits for results, may become more commonplace. Such scenarios have serious implications for privacy and ethics. I read a story of a man who did a home paternity test behind his wife’s back (this is actually encouraged on one paternity website as a way to gain initial information before proceeding with overt testing). The man confronted his wife with the test results that showed he was not the biological father of their children. She flew into a rage and told him he would never see the kids again. While he still has rights as a father, even if he is not a biological one, he now has to battle for these in court. He confessed that he had never fully thought through the consequence of a negative result and deeply regretted doing the test. He was unsure what relationship to have with his kids now, how to think of them, whether he was really their “daddy”. My point here is not to begin a commentary on paternal rights – I mean merely to highlight that this man felt he had acted without fully considering how the test results would affect him.

As genetic testing becomes easier and more commonplace concerns over emotions, psychological states and privacy concerns may be easily overlooked to the point that they are seen as unimportant. Yet to promote autonomous choices we must attend to genetic decision-making in context and encourage individuals to think about what test results will mean to them, their families, and their future. This is not to decry genetic testing; it is to open a dialogue about choices before decisions need to be made. Let’s not “wait and see” what the future holds if diminished autonomy becomes an accepted part of our medical system.

[1] Pearce, Tralee. 2007, July 10. Amniocentesis: New guidelines. 40 is the new 35 for test. Globe and Mail, L1 and L3; p.L1.
[2] Ibid, at p.L3.
[3] Mateu Suter, Sonia. 2002. The routinization of prenatal testing. American Journal of Law & Medicine, 28: 233-270; p.234.
[4] Ibid.
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