HIPAA – Feminism and Religion

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).

Continue reading “Genetic Testing: The Ethical Implications of Expanded Newborn Testing – Who Benefits? (Part Two) by Michele Stopera Freyhauf”

With Angelina Jolie’s electing to have a double mastectomy because she carried the BRCa Gene, and her mother and aunt died at a very early age of the disease, the issue of genetic testing is in the forefront again. This is a three-part essay explores genetic testing when it comes to newborn testing (part one and part two) and concludes with exploring personal choices, availability, and psychological ramifications of genetic testing.

BabySeq — Picture originally found at http://www.ngsleaders.org/blogs.aspx

After nine months of worrying and diligent pre-natal care, the day to meet your unborn child is here. Labor is long and for hours you lie in the birthing suite riding out contraction after contraction. The moment finally arrives and you discover you have a son; ten fingers, ten toes and seemingly healthylungs by the cry that you hear. He is then quickly taken over to the nurse’s station and a drop of blood from his heel is placed into a machine that in seconds will decode his entire genome. Soon your son’s future will be written in stone; he has a life expectancy of 30.2 years and has a 99% chance of dying from heart failure. In that instance, your son has been labeled as an in-valid and he is now doomed to exist within a lower class of society, one that will prohibit him from pursuing his dreams. Society has discriminated against your new baby boy based solely upon his DNA. A new form of eugenics is born.

This was the opening scene of the 1997 science-fiction movie called “Gattaca.” Besides pushing the bounds of human imagination, science fiction can serve as a warning about a future caused by the abuses of humankind. The opening birth scene in this movie is quickly becoming a potential reality. Now, a person’s entire genome can be decoded and in an instant, a person knows whether he or she will be susceptible to Parkinson’s disease, Alzheimer’s disease, Cancer, or other life threatening conditions. Proponents of genetic sequencing believe that this is the holy grail of medical care and tout phrases like “personalized medical care” and “significantly reduced costs of healthcare.” There is a rapid movement towards this goal through the proposed expansion of newborn screening for eighty-four conditions, most of which are not understood or have no known treatment. Continue reading “Genetic Testing: The Ethical Implications of Expanded Newborn Testing – Who Benefits? (Part One) by Michele Stopera Freyhauf”