For genetic analysis related to breast cancer and Huntington’s disease, it is likely such investigations are initiated for an asymptomatic patient with a relevant family history. Testing for Down’s syndrome is routine for pregnant women older than 35. With the advent of maternal serum markers, 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 in genetic testing. With whom are the results to be shared? With testing for BRCA mutations, a mother or a daughter may learn she carries BRCA1 or BRCA2. Knowledge of this result might be valuable to the daughter or mother, respectively. But the mother, for example, may wish to keep the results private. She doesn’t want her husband to know and fears her daughter may share the news not only with family but also with friends.
In some cases the mother and daughter share a family physician. Is that doctor obligated to communicate critical information to the daughter, even though such action will violate the mother’s right 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? Her personal autonomy is at odds with her moral obligation to care for her children.
Similarly a parent, whose own mother had Huntington’s disease, chooses to be tested when he is 40 years old. He learns he has an excessive number of CAG repeats in the HTT gene on the short arm of chromosome 4. He will certainly develop Huntington’s disease. Is he obligated to tell his children? Is his physician obligated to share the information? Again, the relevant bioethical principles 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 Huntington’s disease onset after age 40. She has herself tested and learns she does not carry the gene. As a result of this process, she has gained private medical information concerning her partner. He will develop Huntington’s disease. Is she obligated to share this information? There are implications for his parents and his children from a previous marriage.
Also, should she abort the fetus? If she chooses to have this child, is she imposing an unfair burden on society? Who will bear the costs of care for her child after the disease manifests? Might these resources have better uses elsewhere? Bioethical principles of justice and autonomy are in conflict.
Would she be acting irresponsibly if she chooses to have additional children with her partner? Each child would have a 50% chance of developing Huntington’s disease. Such actions would be ethical, as decades of healthy existence would be preferable to never having been born at all.1
With the prenatal detection of trisomy 21, what are the physician’s obligations? Should she recommend termination of the pregnancy or should she also point to the many persons with Down’s syndrome living fruitful lives? On another matter, is such prenatal testing for all pregnant women an appropriate use of scarce resources?
These are a few of the many ethical questions that confront individuals and physicians on a daily basis. Many more will arise as technology continues to advance. The fields of bioethics and jurisprudence need to be proactive and deeply consider these matters in advance of further scientific and technological developments.