Case Study in Lethal Diseases and Autonomy
Introduction:
Genetics Generation is happy to be back after a holiday hiatus. The case study we present today highlights a difficult situation that is becoming more commonplace as the list of diseases detectable by genetic testing grows. Should at-risk parents have their children screened for serious conditions that won't manifest until adulthood?
Case Study:
Scott, a 30 year-old male, has a family history of Huntington's disease (HD). Huntington's disease is a lethal condition that causes progressive neural degeneration. Affected individuals often experience mental and behavioral changes including paranoia, hallucinations and dementia, as well as physical symptoms such as difficulty walking, slurred speech, and jerky movements. The disease has a late onset; most affected individuals begin to show symptoms between the ages of 30-50, although this may vary between families. A person with HD will typically live 10-25 years after symptoms become apparent. Scott learns that a genetic test for HD has been available since the mid-1990s and decides to be tested. When the results are returned, Scott is told he has tested positive for the genetic mutation that causes Huntington's disease and will, therefore, eventually get the disease.
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Image credit:
axisboldaslove1 (via Flickr)
References:
Huntington's Disease Society of America. http://www.hdsa.org/ (2013)
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I think we know what causes it and how it is caused.So why can`t we change the genetic sequence of an unborn baby and we can even apply some of the techniques used when there is a problem with reproducing.I think we can prevent it if we think.
If the family will continue the pregnancy irrespective of test results, ie no changes to maternal/fetal care will result, then the test of the fetus is of no value and may risk fetal health. Amniocentesis and placental sampling are not risk free. Prenatal testing is not warranted if it won't change therapy. Later testing is a separate issue.
FOR PARENTS IT IS BETTER TO KNOW THE HEALTH SITUATION OF THEIR NEW BORN SO THAT THEY CAN KNOW HOW TO CARE AND OVERCOME PROBLEMS
I think that the general legal rule regarding previable fetuses is that they do not have rights. This is a predicate of Roe v Wade, the decision permitting abortion until viability. Fetuses/children acquire rights post natally; that is, if a fetus is harmed in utero by a drug, for instance, and survives it may have a claim for damages. The issue could be framed in terms of the rights of the future child, but I'm not sure how this framework would help resolve this issue. The only rights that are clearly involved are the parents. It seems to me that they have a right to obtain the information regarding the condition of the fetus. Even so, the physician has the right to decline to perform the test. The fact that the parents may have aright to the information does not entail that any particular provider must assist them in ascertaining the information.
If it's recommended that children not be tested for late-onset conditions, then it seems to me that recommendation would logically extend to prenatal testing.
Having said that, I'm not sure I agree with the recommendation. Parents (and, more generally, adults) constantly make decisions that override a child's autonomy for their well-being. For example, if a child has poor eyesight, they might be given contacts or glasses, or they might get surgical treatment. Each choice has a big impact on who the child will grow up to be, but the decision usually rests with the guardian.
That's my first reaction, but I'd be happy to hear how/why I'm wrong.
are there guidelines for the legal rights of an embryo?
Satya~ A single gene mutation causes Huntington's disease, and the test is highly accurate. Also, the mutation is 100% penetrant, which means if you test positive for the mutation, you will definitely get the disease. The recommendations for genetic testing of children is clear; testing for adult onset conditions is strongly discouraged. However, the recommendations for prenatal testing have not been as clearly articulated.
The disease might affect Scott's child.
The child should know about the disease in his adulthood.
Grooming him beforehand about Huntington's disease will affect his free will. It will make him unnecessarily CONSCIOUS in childhood.
Is the mutation for Scott's disease monogenic or multigenic.... That is crucial for decision making...
If the mutation is monogenic and functionally phenotypic , one should go about with all options and precautions..
If the disease is multigenic , one muation has only a slight 'probable' cause, the parents have no right to determine their child's future with fears , forced thoughts etc... Because it might not be a 'peer-reviewed' decision.
The doctor has a legal right to stop parents from taking hasty decisions about any child.
