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

For genetic analysis related to breast cancer andcan regarding the potential health of her
Huntington's disease, it is likely such investigationsbaby-to-be. Her fetus carries an HTT anomaly
are initiated for an asymptomatic patient with asuggestive of Huntington's disease onset after
relevant family history. Testing for Down'sage 40. She has herself tested and learns she
syndrome is routine for pregnant women olderdoes not carry the gene. As a result of this
than 35. With the advent of maternal serumprocess, she has gained private medical
markers, aggressive obstetricians mayinformation concerning her partner. He will develop
recommend such screening to all their patients.Huntington's disease. Is she obligated to share this
The right to privacy - closely related to theinformation? There are implications for his parents
bioethical principle of autonomy - is the mainand his children from a previous marriage.
concern in genetic testing. With whom are theAlso, should she abort the fetus? If she chooses
results to be shared? With testing for BRCAto have this child, is she imposing an unfair burden
mutations, a mother or a daughter may learn sheon society? Who will bear the costs of care for
carries BRCA1 or BRCA2. Knowledge of this resulther child after the disease manifests? Might these
might be valuable to the daughter or mother,resources have better uses elsewhere? Bioethical
respectively. But the mother, for example, mayprinciples of justice and autonomy are in conflict.
wish to keep the results private. She doesn'tWould she be acting irresponsibly if she chooses
want her husband to know and fears herto have additional children with her partner? Each
daughter may share the news not only withchild would have a 50% chance of developing
family but also with friends.Huntington's disease. Such actions would be ethical,
In some cases the mother and daughter share aas decades of healthy existence would be
family physician. Is that doctor obligated topreferable to never having been born at all.1
communicate critical information to the daughter,With the prenatal detection of trisomy 21, what
even though such action will violate the mother'sare the physician's obligations? Should she
right to privacy? The principles of autonomy andrecommend termination of the pregnancy or
beneficence are in conflict in such a scenario. Doesshould she also point to the many persons with
the mother have an obligation to communicateDown's syndrome living fruitful lives? On another
the information to her daughter? Her personalmatter, is such prenatal testing for all pregnant
autonomy is at odds with her moral obligation towomen an appropriate use of scarce resources?
care for her children.These are a few of the many ethical questions
Similarly a parent, whose own mother hadthat confront individuals and physicians on a daily
Huntington's disease, chooses to be tested whenbasis. Many more will arise as technology
he is 40 years old. He learns he has an excessivecontinues to advance. The fields of bioethics and
number of CAG repeats in the HTT gene on thejurisprudence need to be proactive and deeply
short arm of chromosome 4. He will certainlyconsider these matters in advance of further
develop Huntington's disease. Is he obligated to tellscientific and technological developments.
his children? Is his physician obligated to share the1See, for example, Robertson JA: Children of
information? Again, the relevant bioethical principlesChoice. Freedom and the New Reproductive
are in conflict.Technologies.
A mother-to-be wishes to learn as much as she