Question

Case Study #4

Tracy already had 3 children when her 4^th child (Samantha) was born with a number of genetic abnormalities including curvature of the spine.

An abnormality on chromosome 15 was identified and Tracy and her husband received genetic counseling. They were told that the disorder was rare and that any future children had no more than a 1 in 200 chance of being affected.

Ove the next 11 years, Tracy had 4 other children. All were tested for abnormalities which proved negative. Tracy’s 8^th and final child (Colin) was a small baby but otherwise appeared quite healthy.

After about 6 months it became apparent that Colin was not thriving and on a couple of occasions he was admitted to the hospital because he stopped breathing. Tests revealed that he was suffering from a curvature of the spine called spinal muscular atrophy. He was discharged home as no treatment could be offered. Colin died two weeks later at age 20 months.

An investigation was undertaken and it became apparent that Samantha had also died of the same thing but this information had never been passed on to their parents. If would appear that the pathologist involved at the time believed that the spinal muscular atrophy was directly related to the disorder on chromosome 15 rather than a separate condition.

Tracy and her husband claimed that they had been aware that Samantha had died of spinal muscular atrophy and that any subsequent children had a 1 in 4 risk of also having the condition. They would either have an antenatal screening specifically for this condition and a possible termination of the pregnancy.

Questions: Case #4

What are the ethical issues surrounding this case?

Is there any obligation on the part of the hospital/physicians caring for this couple to ask them to consider not having further children? Why or why not?

Do you believe this was a case of wrongful birth? Please discuss why or why not you feel this way

Answer 1

ANSWER:

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death.

The disorder is caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryoticcells (that is, cells with nuclei, including human cells) and necessary for survival of motor neurons. Lower levels of the protein results in loss of function of neuronal cells in the anterior horn of the spinal cord and subsequent system-wide atrophy of skeletal muscles.

Spinal muscular atrophy manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. Proximal muscles, arm and leg muscles that are closer to the torso and respiratory muscles are affected first. Other body systems may be affected as well, particularly in early-onset forms of the disorder. SMA is the most common genetic cause of infant death.

Major ethical issues are:

1) Colin was discharged from the hospital as no treatment could be offered , but he could be kept in the hospital for further management.

2)In the center of ethical questions is the comprehensiveness of information provided to the couples or patients and counseling them about results and making informed educated decisions.

3)Beyond the psychological consequences of receiving genetic testing information are the potential impacts on the family—not only the individual, but also the partner, parents, grandparents, siblings, and children of the individual being tested or screened. The diagnosis of a genetic condition or the results of a genetic test often have repercussions for future childbearing decisions as well, although this is only one of many components of genetic counseling.

Yes, Hospital has an obligation for this couple to ask them to consider not having further children.

One of the goals of genetic counseling is to calculate and communicate risks (Holtzman, 1989). Risk communication, however, entails far more than just accurately determining the numerical risk and transmitting that information to a client.

Clients come to the counseling session with experiential, emotional, religious, and situational concerns that will influence not only their perception and interpretation of risk but also the manner in which they receive the information presented to them. Communicating, understanding, interpreting, and using information on genetic risk involve a "series of complex, multidimensional processes with major rational and nonrational components