With Angelina Jolie’s decision to have a double mastectomy due to a genetic test that revealed she carried the BRCa gene, the issue of genetic testing is in the forefront once again. This is the second part of a three-part essay exploring genetic testing on newborns (part one and part two) and concludes with exploring personal choices and the psychological ramifications of genetic testing.
False Positives, Lack of Empirical Evidence, and Dangers in Expanded Newborn Screening
In the year 2000, most states only screened for about four conditions. As of November 2008, most states adopted screening for the 29 recommended primary conditions and up to 25 secondary conditions (See President’s Council on Bioethics, “The Changing Moral Focus of Newborn Screening,” 36). Since no federal mandate on newborn screening exists from state to state, this number varies due to the lack of understanding of the diseases or showing no proven benefit. In fact, the twenty-five secondary conditions recommended by the American College of Medical Genetics do not need urgent treatment in the newborn period or have no proven treatment (Also see Mary Ann Baily and Thomas J. Murray, “Ethics, Evidence. And Cost in Newborn Screening” Hastings Center Report (38, 2008), 28 ).
Then there is the multiplex technology of tandem mass spectrometry (MS/ MS) that can screen for over 40 “inborn errors of metabolism” from a single drop of blood (See President’s Council, “The Changing Moral Focus of Newborn Screening,” 9). While this technology has reduced the numbers of false positives, it is still far from being reliable. This is due to screening for rare disorders on a population wide basis – about four million babies annually. To illustrate this point, in 2007, 3,364,612 infants were screened for Maple Syrup Urine Disease (MSUD) in the United States and 1,249 tested positive. After retesting, only 18 cases confirmed a positive result (See President’s Council, “The Changing Moral Focus of Newborn Screening,” 14). MSUD is a well-understood condition that shows some benefit for screening. However, when we expand screening to add conditions that are not understood as well as mandate all newborns in the United States to be tested, false positives are likely to be in the tens of thousands (See also Beth Tarini, et al. “State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False Positives” Pediatrics, 118 (2006), 448-456).
Another problem with this technology and a contributing factor to false positives is the lack of quality assurance systems with MS/ MS screening. Very few labs in the country are equipped to provide definitive diagnosis quickly and accurately, which is attributed to the decline in biochemical specialty laboratories and the lack of people trained to oversee the laboratories due to slashed funding or lack of interest by students who would rather study molecular genetics instead of biochemical genetics.
Empirical evidence does not exist that shows newborn screening reduces mortality or morbidity. Dr. Susan E. Waisbren, of Children’s Hospital in Boston, compared the experiences of newborns who were screened and who were not and found that “only one child identified by the expanded screening experienced significant developmental delays, compared with 45% of the children identified through symptoms. ” Each genetic illness is unique and only a small portion of abnormal gene variants uncovered in newborn screening will lead to a serious illness.
Inherent dangers and unintended consequences of screening programs that screen asymptomatic individuals for genetic abnormalities exist. This is not a neutral gathering of information that will have no effect on those screened. If focus continues to shift away from the individual and continues towards a rush to find cures for obscure diseases, the lines in the sand will continue to blur. As more endorse the principle of screening as a societal benefit instead of the benefit of the individual, science treats the population of newborns as mere test subjects. In my opinion, individual sacrifice for the greater good is a very cloudy argument absent empirical evidence.
To show the detriment caused to one family by the State of Nebraska, who mandates newborn screening, one only needs to review the case In re: Interest of Anaya. Nebraska has mandatory screening programs for newborns with legal implications for those who do not submit to test. Here parents who do not wish to have their children screened for untreatable disorders have no ability to opt out, even on the basis of religion. The State of Nebraska removed baby Anaya from his parents because they would not consent to screening and labeled them as unfit. Eventually, while in custody, the baby was tested, the results were negative, and he was returned home. Think about the long-term effect that the Anaya family will continue to deal from being labeled as “unfit parents” to the continued memories of their newborn being taken from their arms from the State.
The Psychosocial Ramifications of Expanded Newborn Screening
Another major problem that seems to be overlooked, is the psychosocial ramifications for the child and parent. When it comes to this area of concern, we are in uncharted territory. Here three different scenarios will be explored: 1) a parent wondering if the first test was correct when the baby initially tested positive for a condition 2) strained parent-child relations or 3) a child is diagnosed with a disease that may never manifest or is not treatable.
Some parents remain anxious for years after they received results that show the original test was a false positive. False positives in newborn screening have caused lasting harm in the early bonding of a parent and child and can cause “debilitating anxiety, depression, and despair, not to mention stigmatization and discrimination by others” (See President’s Council, “The Changing Moral Focus of Newborn Screening, 61 and 72). A study in Scandinavia looked at this issue by examining thirty-two families four years after a false positive was received in a newborn screening test. The results of this study show that half of the thirty-two families still showed persistent signs of anxiety six to twelve months after screening, and thirteen still have anxiety after four years. Of the half that did not show any anxiety after six to twelve months, there are six that now show signs. There is also evidence of adverse affects to the child. Of those thirty- two families, only twenty-four of the children were psychologically examined. Twelve of these children showed disturbed behavior. Ten have parents who do not show satisfactory integration.
This lack of integration between parent and child is the next concern. When a child is diagnosed later in life, a strong bond is formed early between the child and parent and the parent will strive to do whatever is in the child’s best interest. When a diagnosis is made to an infant, there is a risk that the parent will view the child as defective and the bond may not be adequately for met out of fear (See President’s Council, “The Changing Moral Focus of Newborn Screening, 72).
The final issue is the diseases that may never manifest or are still found to be incurable. This group may find families beginning a “treatment odyssey” that begins with internet searches, visiting endless specialists, running up debt, and medical-izing the child’s life, only to have that life end in early death anyway (See President’s Council, “The Changing Moral Focus of Newborn Screening, 33). If the disease has no treatment or may never manifest, then by its description, it violates the basic premise of the Hippocratic oath that focuses on avoiding harm to the patient at all costs. Moreover, after receiving a positive or even false positive, there is no post-diagnosis treatment, whether medical or psychological, for the family, which is very necessary.
Societal Benefit and the Potential for a New Eugenics Movement Based on DNA
When it comes to a clinical ethical decision, the physician, patient, family, surrogate, guardian, and court, make a moral choice involving the best interest of the patient. This philosophy echoes the Wilson-Jungner Principle, focusing screening for conditions as being a direct benefit to the child. With expanded newborn screening, who really benefits? The child and parents or society?
When it comes to the children of the next generation, we seek a better quality of life for them – one free of disease. As previously stated, for each disease that is cured, a new one will emerge. In 1855, John Stuart Mill described a responsible parent as someone who takes steps to have children as healthy as possible. This is affirmed among genetics’ professionals who state that parents have a social responsibility to avoid bringing children into the world with serious disorders (See Dorothy C. Wertz and John C. Fletcher, Genetics and Ethics in a Global Perspective, Kluwer, Boston, 2004, 46). One of the reasons cited for expanding screening – so that parents can make better choices about future reproduction. Focusing on eliminating the suffering child, however one defines that, or eliminating the gene mutation from the familial gene pool can cause a woman to abort her baby, undergo pre-implantation genetic diagnosis (PGD), or not have any children at all.
The promise of reduced cost of healthcare, personalized medicine and the potential to eradicate certain diseases is also blindingly attractive. The Human Genome Project began in 1990 with the goal to develop more effective strategies for disease prevention and treatment. The complete decoding of the human genome occurred in 2003, at a very high cost. In 2008, lllumina sequenced a person’s genetic code for $48,000 and give a free iMac computer loaded with the entire genetic data. Today, 23AndMe, will analyze about 600,000 genetic markers for a mere $99. We are very close to having an individual’s full genome added to his or her own medical file as part of routine medical care, paving the way for personalized medical care. In the hope of cutting costs and personalized medical care, a trend towards the computerized storage of medical records has been part of the Obama administration budget.
This gives the potential of issues surrounding access and ownership and by that; potential genetic discrimination even with the implementation of the Genetic Information and Nondiscrimination Action (GINA) in 2008. GINA is limited to employment and insurance discrimination and covers only genetic information as opposed to medical information currently covered under HIPAA. The full impact of GINA has yet to be fully realized and tested.
Genomic medicine and universal genetic profiling will start to blur the distinction between genuine diseases and mere differences in DNA because every one of us carries a “multitude of minute genetic variations.” Abuses can already be seen in the criminal field with the expansion of collecting DNA from the convicted to those arrested. In a New York Times article, Solomon Moore explores the issue of expanding DNA Collection. Originally, the intent of DNA collection was limited to convicted felons and was done to track homicides or violent sex crimes. In 2009, fifteen states and the FBI, have made this a routine part of intake, like mug shots and fingerprinting before a person is found to be guilty. Today that number has increased. This expansion is clearly a violation of the Fourth Amendment Right, which states that a person is “innocent until proven guilty.” This issue was just taken up by the U. S. Supreme Court in the United States vs. King (the decision was June 3, 2013), Justice Scalia’s interpretation of criminal DNA testing as a violation of the Fourth Amendment dissented from the other Supreme Court Justices.
A final concern is one of genetic eugenics. According to Paul Lauritzen, in his article “What Price Parenthood,” “If genetic abnormalities can be detected or even treated, much human suffering might either be avoided or alleviated. Yet how does one distinguish between attempts to eliminate suffering and attempts at eugenics” ( See Paul Lauritzen,“What Price Parenthood” Hastings Center Report, 44). In China, eugenics is considered the major goal of genetics because it improves “the population quality and reduces the population quantity“ (See Dorothy C. Wertz and John C. Flectcher. Genetics and Ethics in Global Perspective (Kluwer Academic: Boston, 2004), 44). This definition is mirrored in the Czech Republic, Hungary, Thailand, Russia, and Greece. Mandatory population screening can lead to what Dorothy Wertz and John C. Fletcher states is a “cleaning up of the gene pool,” like the eugenics movement in the early 20th century in the United States whereby mandatory sterilization of carriers were done to eliminate a mutation. However as with diseases, as mutations are eradicated, new ones will emerge.
In the final installment of this series, I will make some concluding remarks and discuss decisions made by women, such as Angelina Jolie, and what psychological issues looking into your genetic crystal ball could have on an individual. Finally, I want to address to look at this point through a theological lens.
Michele Stopera Freyhauf is currently a Doctoral Student in the Department of Theology and Religionat Durham University. She has a Master of Arts Degree from John Carroll University in Theology and Religious Studies, is a Member of Sigma Nu, performed post-graduate work in History focusing on Gender, Religion, and Sexuality at the University of Akron, and is an Adjunct Instructor in the Religious Studies Department at Ursuline College. Her bio is on the main contributor’s page or at http://durham.academia.edu/MSFreyhauf and she can be followed on twitter at @msfreyhauf.