Genetic Testing - Breast Cancer, Huntington's Disease, and Bioethics

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Learn How to Live With Huntington's Disease


  • 1. ==== ====Learn How to Live With Huntingtons Disease ====For genetic analysis related to breast cancer and Huntingtons disease, it is likely suchinvestigations are initiated for an asymptomatic patient with a relevant family history. Testing forDowns syndrome is routine for pregnant women older than 35. With the advent of maternal serummarkers, aggressive obstetricians may recommend such screening to all their patients.The right to privacy - closely related to the bioethical principle of autonomy - is the main concern ingenetic testing. With whom are the results to be shared? With testing for BRCA mutations, amother or a daughter may learn she carries BRCA1 or BRCA2. Knowledge of this result might bevaluable to the daughter or mother, respectively. But the mother, for example, may wish to keepthe results private. She doesnt want her husband to know and fears her daughter may share thenews not only with family but also with friends.In some cases the mother and daughter share a family physician. Is that doctor obligated tocommunicate critical information to the daughter, even though such action will violate the mothersright to privacy? The principles of autonomy and beneficence are in conflict in such a scenario.Does the mother have an obligation to communicate the information to her daughter? Herpersonal autonomy is at odds with her moral obligation to care for her children.Similarly a parent, whose own mother had Huntingtons disease, chooses to be tested when he is40 years old. He learns he has an excessive number of CAG repeats in the HTT gene on the shortarm of chromosome 4. He will certainly develop Huntingtons disease. Is he obligated to tell hischildren? Is his physician obligated to share the information? Again, the relevant bioethicalprinciples are in conflict.A mother-to-be wishes to learn as much as she can regarding the potential health of her baby-to-be. Her fetus carries an HTT anomaly suggestive of Huntingtons disease onset after age 40. Shehas herself tested and learns she does not carry the gene. As a result of this process, she hasgained private medical information concerning her partner. He will develop Huntingtons disease.Is she obligated to share this information? There are implications for his parents and his childrenfrom a previous marriage.Also, should she abort the fetus? If she chooses to have this child, is she imposing an unfairburden on society? Who will bear the costs of care for her child after the disease manifests? Mightthese resources have better uses elsewhere? Bioethical principles of justice and autonomy are inconflict.Would she be acting irresponsibly if she chooses to have additional children with her partner?Each child would have a 50% chance of developing Huntingtons disease. Such actions would beethical, as decades of healthy existence would be preferable to never having been born at all.1
  • 2. With the prenatal detection of trisomy 21, what are the physicians obligations? Should sherecommend termination of the pregnancy or should she also point to the many persons withDowns syndrome living fruitful lives? On another matter, is such prenatal testing for all pregnantwomen an appropriate use of scarce resources?These are a few of the many ethical questions that confront individuals and physicians on a dailybasis. Many more will arise as technology continues to advance. The fields of bioethics andjurisprudence need to be proactive and deeply consider these matters in advance of furtherscientific and technological developments.1See, for example, Robertson JA: Children of Choice. Freedom and the New ReproductiveTechnologies. Princeton, NJ, Princeton University Press, 1994David Lemberg, M.S. in Bioethics, Albany Medical College, May 2010Consultant, Author, Speaker. Research interests - health care and health care policy, reproductivetechnologies, genetics and genomics, K-12 science educationExecutive Producer, SCIENCE AND SOCIETY, http://scienceandsociety.netTwitter - SCIENCE AND SOCIETY for cutting-edge interviews with Nobel Laureates, trendsettingindustry executives, and best-selling authors in the fields of cancer research, genetics, health carepolicy, nanotechnology, and space exploration.Article Source: ====Learn How to Live With Huntingtons Disease ====