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Genethics Essay Competition 2006Babies’ best interests or mothers’ choice? Which should prevail?Claudia WalkerNayland CollegeIntroductionThe Guthrie Tests are performed on nearly every New Zealand newborn. The principle objectives of the New Zealand screening programme is to detect babies with life-threatening conditions before the onset of their symptoms, and to then initiate the appropriate treatment. By recognizing and treating the condition quickly, the newborn screening programme aims to reduce severe developmental delay, morbidity and potential mortality. The screening processCurrently in New Zealand there are seven conditions in the screening programme. The first four, test for the following congenital metabolic disorders:
Metabolic tests involve analysis of acids and carbohydrates in the blood, and look for chemical abnormalities. This is different from DNA testing, which looks for chromosomal abnormality, and is only done if there is a clinical suspicion of a condition. Although the tests are different, even metabolic diseases are genetic problems, because the genes produce enzymes which cause the chemical reactions of the metabolism, so if a gene is mutated it will cause the metabolic problems. Because of this, we can examine family history for all the conditions tested for in New Zealand. Family history however, is a dubious indicator of the risk of a newborn having a condition. If diseases run in both families (see below table), the child has a one in four chance of getting the disease, assuming the parents are both carriers and therefore the disease recessive, which is not always the case. Many children who are born with a condition have no family history, which means they have had a spontaneous gene mutation. This is relatively common. Jude should have been given information on disease carriers and spontaneous gene mutation before she came to the incorrect conclusion that because there was no family history of a condition her baby would not be at risk of developing one.
Table One:
The other three conditions included in the New Zealand screening programme are
Because the treatment for CF is less effective, there has been some debate over the test for Cystic Fibrosis, and several states in America do not test for the condition. However, there are several tests done in Australia, North America and parts of Europe that are not tested for in New Zealand. These are:
Decision making processThe decision to leave out these disorders was made by the New Zealand National Screening Unit. It was based on a number of important criteria. Firstly, some conditions which are common overseas are not common in New Zealand, so part of the decision was made on our population characteristics. Also, the cost and the effectiveness were weighed up. Decisions were also based on whether detection of the condition would effect the treatment and outcome. This means whether or not the intervention will be successful and make a positive difference to the life of the child. The World Health Organization criteria for screening includes these factors, and also states that the condition should be an important health problem for the individual and community, and that facilities and information should be readily available and of an acceptable standard. There has been some talk by the National Screening Unit about introducing more tests into the New Zealand programme but this has not yet been initiated. Technology and MSMSPart of the reason the only include 7 tests is a lack of technology. New Zealand has not invested in the Tandem Mass Spectrometer (MSMS). The Tandem Mass Spectrometer simultaneously measures chemicals in a small amount of blood. It can detect up to 30 conditions and is very accurate. This new screening technology has been proven to reduce the likelihood of false-positives in amino acid disorders such as the test for PKU. The problems with the MSMS are firstly that the system requires several expert scientists to perform the analysis and medical experts to interpret large amounts of clinical data. The instruments involved are expensive, and to balance the cost-effectiveness, several tens of thousands of samples would need to be screened. New Zealand is a very small country, with a relatively small population, so the need for us to have this technology is less than the likes of Australia. Another downside is that the Tandem Mass Spectrometry system is a time consuming process, which delays the communication of information to physicians and therefore parents. Despite the limitations of this expanded newborn screening programme, this system has been put in place in larger countries; Australia, and parts of North America and Europe. The MSMS is recommended by the Newborn Screening Committee of the Human Genetics Society of Australasia. Lynne, who wants more tests done, should consider getting the extra tests done overseas, because New Zealand currently does not have the facilities to provide the tests or the appropriate treatments if a condition is detected in Lynne’s baby. Informed-ConsentInformed consent for the tests done in the New Zealand newborn screening programme (Guthrie Tests) is the responsibility of the Lead Maternity Carer (LMC). The LMC is responsible for informing the caregivers about the purpose of neonatal blood tests, about the right to give or refuse consent to such tests, and obtaining her consent for the blood collection. The LMCs are also responsible for informing the mother that she has the right to have the blood samples returned to her or dispensed of after testing. The LMCs should have a discussion with the parents at least a day prior to the testing about their rights and about the tests. All Lead Maternity Carers are bound by the Code of Rights which states; "any body parts or bodily substances removed or obtained in the course of a health care procedure may be stored, preserved, or utilized only with the informed consent of the consumer." Right 7 (10). This process is similar to the arrangements in the US. The American Academy of Pediatrics believes that physicians have an ethical and legal obligation to obtain parental permission for such tests as the Guthrie tests, where the patients themselves cannot consent. Should Jude be free to refuse consent?Although Jude should be free to make the decision herself, the decision to not test her baby is the wrong one. In New Zealand, Jude has the right to refuse the tests because the system in voluntary. It is certainly true that her baby is at less risk of developing a CF, CAH or congenital hypothroidism than a baby whose family does have a history of a condition, however, genes spontaneously mutate, affecting the baby’s enzymes, and the child could end up with any of the conditions tested for, including the metabolic ones. By saying she is afraid the tests will break her baby’s special aura, Jude is underlining an important ethical issue that arises in the screening of newborns, and subsequent child health care. Some parents object to having their babies screened for moral or religious reasons. In New Zealand parents have the right to choose, and, screening is not mandatory for all newborns. This tells me that in New Zealand, moral or religious beliefs come before the health of the next generation. In other places, the state of South Dakota to name but one, Guthrie Testing is mandatory. We need to remember that these tests are put in place for the interests of the newborns, not their parents. A child who has the potential to grow up healthy could grow up with severe developmental problems if their parents are worried that testing will ‘break their baby’s special aura’. Is Lynne entitled to have all possible tests done from her baby’s blood sample?Ethically Lynne is entitled to have more tests done, but pragmatically, New Zealand is not set up to have many extra tests done. It is likely that Lynne will not be able to have her baby screened for all the conditions she wants, and it would be more beneficial were she to get her newborn tests undertaken in Australia. Like Jude, Lynne also poses important ethical and social dilemmas surrounding newborn screening. If Lynne is allowed to test her baby for more than the seven conditions, which conditions should they be, and should it be Lynne that chooses them? There are thousands of conditions that can potentially be tested for. This raises another problematic issue. If Lynne and other parents like her wish to test for more conditions, could they choose to test for untreatable conditions? If this is possible, then parents can pick and choose which conditions they test for, and we face the dilemma of deciding how far is too far? What can be tested for and what cannot? If parents can choose any conditions, any metabolic or any other gene abnormality to test for, there will be less and less focus on reducing newborn morbidity and mortality, and more and more focus on the science- fiction like goal of gene screening. Over the last twelve years studies have been done over an argument that there is a gene for homosexuality. Some twin studies have shown nearly 50% of twins will both be homosexual if one of them is. Is it possible that in a few years, parents like Lynne could request to have their babies screened for the ‘gay gene’? This extremist view shows how easily we could go too far. We have the potential to discriminate on the basis of genes, and manipulate the health of the next generation. Problems occur surrounding the issue of whether tests should be introduced that diagnose conditions that will develop later in life. The ethical problem for parents, is having to decide whether to their child that they will be effected with a condition in adulthood. This decision is made especially hard because it is impossible to predict if the disease will develop (they may just be a carrier of the gene) or the severity of its manifestations. Telling a child they will develop a possibly life-threatening condition in adulthood also includes severe psychological risks such as impaired self-esteem and lifelong anxiety. On the flip-side, the individual has the right to know if they are going to develop a disease in adulthood. They have the right to have the longest possible time to come to terms with the possibility of a shortened or impaired life. Ethical DilemmasBy changing the newborn screening programme to accommodate extra conditions, untreatable conditions or conditions which only develop in adulthood, we find ourselves in a system riddled with ethical dilemmas that need to be solved.
ConclusionThese questions are about right versus right. Both sides of the argument have valid points. We must consider the rights of the individual, but first and foremost we must determine the benefit to society and proceed to act to provide the greatest good to the greatest number of New Zealanders. Lynne and Jude provide us with good examples of the kinds of decisions we need to make. We need an understanding of the science involved and the consent processes required before we make decisions. ReferencesYear 13 Biology Student Resource and Activity Manual, R. Allan and T. Greenwood Personal communication: Gaye Berry, Nayland College, HOD Health Personal communication: Graeme Bloomfield, Nayland College HOD Biology Personal communication: Marissa Kelaher, Pediatric Nurse, Nelson Hospital www.rsnz.org.nz www.moh.govt.nz/moh.nsf (13/6/06) www.medicalhomeinfo.org/screening (13/6/06) www.health.state.mn.us (14/6/06) genes-r-us.uthscsa.edu/nbsdisorders.pdf (15/6/06)
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