This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison
Genetic Test For Spinal Muscular Atrophy Should Be Offered To All Couples, Experts Urge
-Popular Press Review
The article “Genetic Test For Spinal Muscular Atrophy Should Be Offered To All Couples, Experts Urge” in Science News proposes that we should make a test available to the general population that would allow for detection of SMA(Spinal Muscular Atrophy) carriers. This is an effort to prevent this potentially terrible disease from causing harm and premature death in those that are infected. However, this disease does have a relatively low occurrence in the population (about 1 in 10,000 infants). This has generally only been made available to those with a history of the disease. Because of the severe effects, it seems that the benefits of testing for this disease outweigh the risk of infants being born with it.
The article presents an overview of the disease that is general but accurate. It is stated that SMA leads to degeneration of specific nerve cells. The disease does lead to muscle weakness and often death before age two. Testing for SMA detection is currently voluntary, but it meets the standard of the ACMG (American College of Medical Genetics) for population-based genetics screening. Tests have been in place for genetic diseases that occur mainly in limited populations, but SMA occurs in all populations. Due to the greater potential for this disease to reach any demographic it is implied that we have a greater responsibility to test for its presence. It was also noted that that regulations ensuring confidentiality and consent in the tests need to be enforced as they have been for other similar tests. Dr. James P. Evans, editor in chief of Genetics in Medicing claims that, “the field of genetics are advancing to the point that entire populations stand to benefit”(1) and this may very well be true. Due to the occurence of this disease in many populations and the increased ease in which we can perform these tests, we are encouraged to support the change for an increase in testing.
The article did a good job of presenting accurate science, but it may have failed in its ability to provide all of the necessary effects. Testing is currently voluntary, but it is not clear what this would cost the general population or if it would be covered by varying insurance plans. It seems that the awareness that a couple may have a child with the disease would influence their decision to give birth. However, something with such a low possibility of occurrence may not be worth the extra spending in order to ensure that it does now happen. Even if the testing is done, there is always the potential for error, in this case about 10% of carriers are not recognized. There are many things to consider when weighing this idea. The article takes some into account, but it does not consider all factors influencing the decisions that will be made. It seems that it is merely here to make us aware that the technology exists and genetic diseases may be prevented. How this is to be carried out in a feasible manner for all parties is an entirely different matter.
Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy
-Scientific Article Review
The scientific article that I reviewed concerned a study done by Liang et al. entitled Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy. The article was mainly concerned with giving an overview of spinal muscular atrophy, the methods used for detection and the relationship of SMN1 and NAIP (Neuronal apoptosis inhibitory protein) genes.
The article gave a good overview of the disease, stating most of the important concepts. The frequencies of occurrence that they listed are close to the numbers that I had found. Obviously there will be differences depending on the specific form of the disease studied and the location of the study. One difference that I noticed was that the article only listed three severities of SMA while I found four different severities. They did use the same criteria (age of onset, muscular activity and survivorship). The article hypothesized that there was a relation between NAIP and the severity of SMA.
Liang et al. isolated DNA from blood samples and performed PCR and then used restriction enzymes to detect the deletion of exon 7 and exon 8 in SMN1 and exon 5 in NAIP. They gave a thorough description of the method and procedure of their specific PCR.
They discovered that 11 of 34 patients with SMA1 had a deletion of NAIP exon 5. No other patients exhibited this deletion. All SMA1 patients had deletions of SMN1 exons 7 and 8. The majority of SMA2 patients had lost both exons while some only had a deletion of exon 7. SMA3 patients all had deletions of exon 7 exclusively. They concluded that there is some relation between NAIP and the severity of SMA.(2)
The relationship seems to exist, but I would like to see a study done with a far greater sample. It seems difficult to make a distinct conclusion without a wider sample base. Overall, the paper did a good job of citing its sources, giving detailed explanations of their methods and the future possibilities.
Popular Press vs. Scientific Article
The two articles that I read were substantially different in their approaches to the science that they were conveying to the audience. Obviously the audience’s level of scientific knowledge is very different and this affects the way in which these two articles are written.
The article from Science Daily addressed an audience with potentially no scientific knowledge. Since this was the case, they gave a very basic explanation of the disease and the other information presented. They did a good job of presenting the information in a very informative way without being too complex. They are also free from citing all of their information, so the sources often go unnoted and this could lead to a misrepresentation of data. This type of article is meant to get people interested in reading this particular website. I feel like popular press articles are foremost concerned with people reading them and the accuracy is a later concern. This could lead to some misinformation, but journalistic accuracy is very important for the survival of a magazine and their journalists.
The article by Liang et al. presented the specifics of the methods that they used and a lot of the information would only be comprehensible to members of the scientific community. This is more exclusive, but necessary to ensure scientific accuracy. The information was also cited in great detail. Future research can examine the accuracy and other can look for more information on specific aspects of the research done.
Both of these articles did a good job of presenting the information in a way that was appropriate for their expected audiences. Popular press releases may seem problematic to the scientific community, but this is likely because they expect a higher level of detail and explanation. The two different approaches lead to inherent differences that benefit one audience more than the other. It is important for everyone to consider the biases that may be present in the popular press as well as the importance of accuracy in scientific writing. Each of these forms of writing should be approached in a different manner with certain expectations for each of them.
Refernce:
1. American College of Medical Genetics (2008, December 9). Genetic Test For Spinal Muscular Atrophy Should Be Offered To All Couples, Experts Urge. ScienceDaily. Retrieved February 12, 2009, from http://www.sciencedaily.com/releases/2008/12/081209154945.htm
2. Liang et al. "Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy" Journal of Zhejiang University SCIENCE B 10.1 (2009) 29-34
(article may be downloaded below)
| jzusb10-0029.pdf | |
| File Size: | 95 kb |
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William Baader
[email protected]
Feb 25 2009
www.gen677.weebly.com
