Science Article Review by Gina Elbert
October 4, 2012
Kolata, Gina. “Infant DNA Tests Speed Diagnosis of
Rare Diseases.” The New York Times. 3
October, 2012. 4 October, 2012. < http://www.nytimes.com/2012/10/04/health/new-test-of-babies-dna-speeds-diagnosis.html?pagewanted=1&_r=1&ref=science>
Gina Kolata’s
article discusses a groundbreaking movement towards diagnosis of rare diseases
in babies: DNA testing. It begins by discussing the case of a baby girl with a seizure-inducing
disease that had only been reported once before, caused by a certain gene
mutation that was found by sequencing the entirety of her DNA. Although, sadly,
this baby died, doctors performed similar tests on others and were able to
identify the gene mutations that caused their diseases. They even did so for
the older brother of one of these babies, who had his organs reversed and had
to have surgery to move his heart from the right side of his body to the left.
While the progress that these physicians have made in finding the genetic
causes of certain diseases is significant, is must be noted that, “Scientists
identified the faulty genes for about 3,500 of 7,500 known genetic diseases …
adding that about 500 have treatments.” (Kolata, page A1) Much has yet to be
done, but the questions that come up are not only those of medicine. Ethics
also come into play, as because of the sequencing of the entire genome of
individuals, doctors can find out if a certain person is likely to contract
some kind of disease, such as diabetes or Alzheimer’s. So far, doctors have
simply skipped over this, choosing not to study it in order not to alarm
parents. Another major issue has been cost, because intensive care treatment,
coupled with DNA testing, is extremely expensive, with the latter yet to be
covered by insurance. While these problems have yet to be solved, it can still
be said that, with the help of new computing equipment from company Illumina
that sequence a genome in only 25 hours (as opposed to 50), the new genetic
discoveries that doctors are making are indeed groundbreaking.
Because of their
newfound ability to find genetic mutations in DNA, doctors will be able to
diagnose rare diseases from birth. Since some can affect babies right from the
start, it is important to find causes as well as potential cures as soon as
possible. If, in the future, doctors are able to do both, it could save
millions of lives and bring joy and happiness into the lives of parents, who
always find it hardest to have to let their child go, just as the parents of
the girl with seizures had to do. I chose this article because of its strong
connection to biology and the cell. It shows how much we have yet to learn –
and possibly never will learn – about life, but because of new information, we
are possible to save lives. Every person has different DNA, so by analyzing it,
we can possibly create customized plans for curing patients.
This article was
well-written, but it did become slightly confusing because of all the examples
that it brought it. They were interesting, as well as illustrative, but no
names were mentioned, most likely for the sake of privacy. While this was a
noble move, it made following the examples hard, as babies were only referred
to as “the girl with this disease,” or the “brother with that disease.” If Ms.
Kolata had made up names for the babies, with a footnote explaining her actions
and motives, the article would have been easier to follow. Despite this fault,
however, the article was very informative and clearly expressed the news that
it was relating.
I thought this review of “Infant DNA Tests Speed Diagnosis of Rare Diseases” was presented very well. I thought the review summed up the article very clearly. The review included all of the information needed to understand what the article was about without making it hard to follow. The review explained exactly what this new technology does and how it has helped many infants. Another part of the review I appreciated was the part in which Gina discussed the difficulties of the testing; She explains that the testing is very expensive and that all cost has to be out of pocket but that insurance companies should pay for it because of its usefulness.
ReplyDeleteI thought the review could have mentioned more about the different studies that have been taking place. By including this it would show readers that the DNA testing most of the time pinpoints the problem but there if often no solution. Also, the review could have included a little more detail about each of the specific stories the author included.
Overall I was surprised to learn that this new DNA testing is new and very effective way of finding out what the problem is. I did not realize the ethics would come into play by analyzing the DNA, but it makes sense since potentially, doctors could find other problems that the child may have.
Gina Kolata’s article on DNA testing, presented by Gina was very interesting and informative. The article discussed the benefits of genetic testing and some of the negative effects DNA testing could have on families. She begins with discussing a baby girl’s seizure-inducing disease that was discovered with genetic testing. Even though the baby died, doctors were able to do the same genetic testing on other baby’s to indentify the gene mutation that causes these babies’ to have this seizure-inducing disease. I was surprised to read that scientists have already identified 3,500 of 7,500 known genetic diseases. I thought that was really interesting because the sooner scientists and doctors know about diseases the greater are the chances for them to find cures. The review was very clearly written and described how DNA testing when a child is born is very beneficial and could prevent families from going through difficult times. Gina also explained how the genetic testing is very expensive but in the future insurance companies might cover most of its costs.
ReplyDeleteI thought the review needed to explain more about the studies that took place in order for scientists to discover 3,500 of 7,500 diseases. Also, I think the review needed to discuss how the genetic testing’s done. For instance, more information about what is the steps taken and what technologies are used to discover these genetic diseases.
The review was very informative. The review talked about DNA testing and how it can be beneficial to those who do it and discover any genetic diseases ahead of time. The review also mentioned that DNA testing can be very expensive and therefore it cannot be done by anyone, and in the future insurance companies would most likely cover the costs of genetic testing’s because it can really be beneficial to those who discover any diseases ahead of time. I was surprised that there were ethical problems associated with DNA testing. Having parents discover other problems about their child before it occurs can alarm parents.
-Nastaran Soroori
I thought Gina’s summary was very concise and well done. I had no difficulty following the nature of the technology and how it was beneficial in diagnosing genetic mutations in new born. Another thing that was also well done was that she mentioned the difficulties and challenges the technology faces. For instance, the cost of the test, which is yet uncovered by insurances, makes it unaffordable to many average Americans. However, despite its expensiveness, this testing has been praised by advocates of ethics, because it does not analyze a baby’s likeliness to develop any diseases later in the life; rather, it focuses solely on the condition at hand. I also appreciated that Gina chose an article that is so relevant to our biology class and also holds a global significance.
ReplyDeleteI think Gina could have clarified her examples a little bit better. She did have a multitude of case studies, which I appreciated, but because she presents a lot of them at the same time, I was confused. (I think part of the problem, as Gina mentioned in her review, was that the author of the article does not give any names for her case studies. She merely refers to them as ‘the girl with the disease’ or ‘the brother,’ which becomes confusing after a while.) Another thing I would have liked to see more of was comparison between before the technology was developed and after the technology came into use for several babies. For instance, she could have mentioned what would have happened to the brother whose organs were reversed or the girl with rare genetic mutation if they didn't have the benefit of this technology.
Overall, I was very impressed that the DNA technology has developed to the extent that it can diagnose a genetic mutation in babies in a day. I am excited to see what would happen with the future of DNA technology, and look forward to seeing our understanding of our genetic makeup and the technology enhance. Although the testing had only saved one baby out of the four it has diagnosed, I hope that the number would increase soon with the understanding of the disease the child has.
The review of “Infant DNA Tests Speed Diagnosis of Rare Diseases” was well-written and informative. The reviewer begins by mentioning a case of a baby who was born with a seizure-inducing disease. The disease was caused by a certain mutation only found when the baby’s entire DNA was sequenced. She mentions that although this baby died, doctors were able to use similar tests to find the gene mutations that caused the diseases that other babies had. It was also important that the reviewer mentioned that out of the thousands of known genetic diseases, only about 500 of them have cures. A problem of the DNA testing that was mentioned in the review was that it is extremely costly and not covered by insurance. Even though the DNA testing is extremely helpful in discovering genetic diseases in a short amount of time, many would not be able to afford the costs.
ReplyDeleteIt would have been beneficial to mention that although the DNA testing is extremely expensive at $13,500, it would end up paying for itself because the costs of being in intensive care are $8,000 a day. The faster the disease could be figured out, the less time the baby would spend in intensive care. It is also good to mention the fact that these tests can both prevent the prolonged life-support and suffering of a baby who will eventually die or increase their chance of survival and treatment of their genetic disease.
I found it very interesting and alarming that so many babies are born with genetic diseases that can’t be treated or even diagnosed. It is amazing how this DNA testing can increase the diagnosis of rare and common genetic diseases quickly and efficiently.
The review of "Infant DNA Tests Speed Diagnosis of Rare Diseases" was very well presented. The article explained one baby with a genetic disease that caused her to have seizures and eventually passed away and another baby with missing skin near the eyebrows and top of the head, in which he eventually died from an infection. The reason behind these diseases was unknown.
ReplyDeleteA good point made in this article was that scientists have discovered faulty genes for about 3,500 of 7,500 known genetic diseases and 500 have treatments. Depending on which way you feel about this, 500 cures is definitely progress in discovering treatments for these genetic diseases. Ethics is always a problem when dealing with science, but it was a good point added into the review. With these new tests, doctors can find out if later on in life these babies could have a disease such as Alzheimer’s. It is noted that doctors are not doing these tests so as to spare the parents for worrying now about something that could happen in the years to come. This view is that you aren’t supposed to know that a baby could in 50 years have Alzheimer’s. That isn’t something a new parent wants to worry about for their child. Also, this DNA testing along with babies being in intensive care is something very expensive and is not covered by insurance companies.
Something that should be noted in this review is that 1 in 20 babies are born with a genetic disorder in the intensive care unit. 1 in 20 babies is a very alarming statistic. Another thing that could have been added was just how much this testing is, $13,500 and not covered by insurance companies is a very expensive procedure that doesn’t always have a good outcome considering some tests could cause suffering to the child or that the test comes out with an incurable disease.
One thing I was really surprised by was that out of 7,500 known genetic diseases, 500 have cures. That leaves 7,000 diseases unaccounted for. Granted, some of these diseases are very rare (as presented in the article with the seizure prone baby girl) it is still very scary to know how many genetic diseases are out there and the amount of babies who die without a known cause.
Declan 10/8/12
ReplyDeleteAP Bio- Current Event Comment
Gina did an excellent job summarizing the article. I liked that she included all of the actual important statistics from the article, because they help the reader understand the point of the article. Gina put together a strong piece that conveys the feelings and emotions of the article, and how important this topic really is. I thought it was smart of her to put her summary in the basic order of the article, which also helps give similar effects to the reader as the article itself. Her review overall is very well constructed.
I though that Gina could have made her final paragraph a little clearer. Found that she may have slightly lost the actual information she was trying to produce by making the sentences too wordy, although the general idea is easily understood. She could have more thoroughly discussed why the genetic sequencing could be seen as unethical, and how identifying a genetic disease early can simply remove stress because it removes uncertainty. Besides that, her review is outstanding.
I found this article to be fascinating. Mapping out the human genome is where the future of medical research lies, and may hold the key to cures for diseases that still plague humankind today. This article clearly expresses this importance and the potential value that further understanding of genetics has to offer.
Overall, I was quite impressed with this review of “Infant DNA Tests Speed Diagnosis of Rare Diseases.” The reviewer followed a clear organizational path and thus made it easy, as a reader, to both get through the scientific jargon, and understand it. I also appreciated the use of statistics and case studies that came from the original article, which helped enhance the points Gina was making. Gina’s review was very in-depth and thorough, an aspect that was only enhanced by her use of the aforementioned statistics and case studies. Another positive aspect of Gina’s review is that she not only summarized the main points relating to the DNA testing, but also acknowledged concerns that arise because of this new technology, such as insurance costs, and ethics.
ReplyDeleteAlthough I liked Gina’s use of case studies in her review, I did find them to be at times confusing or lacking necessary depth. Obviously, having to refer to them as “The brother with diseases” made her job more difficult, as such names lacked specificity and at times made it hard for readers, such as myself, to draw on past references. I also would have appreciated a little more depth in regard to the ethical concerns that were mentioned that go along with DNA testing of babies. I would have liked to hear a little bit more about why doctors are reluctant to learn more about the disease risks of certain babies.
One thing that stuck with me from this article was the insurance implications that come along with such advanced technology. If DNA sequencing can be used to determine people who are at risk of having certain diseases, it will be interesting to see how or if this information is passed along to insurance companies, and how it will affect rates on life insurance.
Elizabeth McGough
ReplyDeleteI think that Gina did a lovely job of presenting the information that was discussed in the article in a direct fashion. As she indicated, the article was difficult to follow due to its lack of use of names, but she was able to avoid confusing pronouns while simplifying the stories of the babies described in the article. I also like her incorporation of the quote as I think it was an important statistical aspect of the article and gives the reader a good understanding of where exactly scientists are with this new breakthrough. In addition, it was good that she mentioned both the cost and the possible ethical issues that could arise from the testing; two crucial aspects to the DNA sequencing that are of particular interest to parents and patients.
One aspect of the article that Gina neglected to mention was the emotional comfort having a diagnosis can provide for parents, even if it does not mean a cure nor change the outcome. I think that this is an important point of discussion because it answers the question, why would someone pay for this test if it just confirms that their child is sick and will die? By having an answer, parents can make more appropriate decisions about how their child should be treated for the remained of their lives. Also, I feel that mentioning, as the article did, that about one in 20 babies in newborn intensive care units have genetic diseases would have been a good idea as it shows just how helpful this technique could be to a number of families.
It is an intriguing, almost scary, point that the scientists have the ability to potentially identify if one baby will be more likely to have Alzheimer’s as an adult than another just a few days after birth. If these results were shown with the test, which they are not for ethical reasons, it would truly impact people’s lives. Would decisions be able to be made at birth, even someday in utero about that could prevent a disease like Alzheimer’s? The possibilities that could stem from DNA sequencing during infancy are mind-blowing.
I thought Gina's review of the article was easy to follow and clear. Gina used the initial example of the child with seizures, who died, to set up how these doctors became interested in using the newfound technology on infants. She explained how the technology specifically analyzed infant DNA to assess any diseases, incurable or curable, and give doctors the ability to try and work on such rare cases. I also liked how she discussed how the technology was very effective and groundbreaking, however also posed problems such as that it is expensive and not covered by insurance, also the ethics that surround the testing; such as, future diseases like diabetes and alzheimers, which only show in adulthood. Lastly, i liked how she mentioned all the cases that were talked about in the article. She summarized how the technology was used on four other babies and was able to save one through a surgery.
ReplyDeleteOne thing i think Gina could have done better in her review was talk about the actual technology behind assessing a gene or DNA and how this new technology does so. There was not much regarding that in the review or article, however is a key thing to look at when discussing such a discovery. Secondly, i think her usage of statistics and case studies talked about in the article at times complicated her review and argument, however overall were important to mention in her review.
The most interesting thing about this article was in fact how quickly and effectively the technology works. They described it as being able to read the entire sequence of a baby's DNA, pretty quickly, and proved this in the case of the baby with the seizures, as they were able to analyze the findings in under 50 hours. The idea of being able to do this is so revolutionizing and really inspiring, as this could make a huge difference in science and in many infants lives.
Maddy Foley
ReplyDeleteAP Biology Comment #2
Comment on Gina Elbert’s Review on “Infant DNA Tests Speed Diagnosis of Rare Diseases.”
The review of this article presented the information clearly and displayed the knowledge the reviewer had gained from the article. For example, the reviewer clearly explained that the sequencing of genomes in DNA can be used for identifying gene mutations, and even noted that faulty genes had been identified as the causes for 3,500 to 7,000 genetic diseases. Secondly, I think the reviewer did a good job at identifying the flaws to this procedure. While it is easy to assume that this scientific development could only mean positive results, the reviewer notes the ethical conflicts and price that go hand in hand with this development. Ethically, scientists can discover further genetic malfunctions that could result in future diseases, and decisions on whether or not to withhold or present this information must be debated. The price of this procedure is also very high, and on top of intensive care treatments that come with the diagnoses, the final price is usually not covered by insurance companies. Thirdly, I think the reviewer was correct to include the emotional stories that were addressed in the article. Particularly this included the stories about the little girl’s seizures and a brother of a patient whose genetic malfunction was corrected. I think these real life situations provided greater emotion for the reader and helped to create concern and hope for this scientific advancement.
There were two things I think this review could change to be improved. Firstly, I think the reviewer could have included more information on the results of these genetic diagnoses. Often, if fact, these diagnosis do not provide a cure for the patient, like in the case of the seizing girl, however, a diagnosis can provide a certain amount of relief and understanding for the patients family. The review could have also included more on the differences between the new and old procedures. After reading the New York Times article I realized the author did not include a very clear explanation of this either, and therefore this could be the reason for the absence in the class review. However, the article did note that the technology is much quicker now in scanning and pinpointing a malfunction.
One particular thing I found interesting in this article was the debate over the ethics of this new treatment. The revealing of future diseases can seriously effect a family and their circumstances. Last year a genetic counselor came into our core Biology class and explained people often seek advice on whether or not to receive the results of the analysis of their genetic information. Knowledge of a genetic mutation could affect insurance rates and other aspects of life, and sometimes are not to the families best interest.
AP Biology Petey DeJoy
ReplyDeleteArticle review comment 10/9/12
The review of “Infant DNA Tests Speed Diagnoses of Rare Diseases” was done very well. The main point of the article, that testing infant DNA for rare diseases is a scientific step that could come for us very soon, was presented very clearly. Her initial example about the child with seizures helped provide an image in my mind as to what kind of disease that they can test for. I also liked how she provided the point that families will be much happier and will suffer less as a result of this newfound technology. People will not have to suffer through the death of their babies, if it can be helped. Finally, she did a good job of analyzing the article and critiquing it, stating that there were too many examples provided which made it confusing. Although Gina did a good job with her review, I would have explained a little more to what extent we can already test the genes in babies and how long it will take until we can test for all genetic diseases. Also, I would have provided a little bit more of an opinion on the issue of ethics. She discusses ethics, a very subjective subject, from an objective lens, and I would like to know what her opinion of the issue is. One thing that surprised me about this article is that “Scientists identified the faulty genes for about 3,500 of 7,500 known genetic diseases … adding that about 500 have treatments.” I was shocked that there are so many diseases and such a little amount of treatment. Overall, I think Gina did a good job with her review.
I found Gina’s review on “Infant DNA Tests Speed Diagnosis of Rare Diseases” to be nicely structured. It was a good hook to lead the review by talking about the baby girl with the rare seizure-inducing disease that was caused by a certain DNA mutation. This gives good lead into the main idea of the article. The second part of this review that was done nicely was the explanation and description of the DNA tests themselves. It was interesting to learn how with these tests, rare disease from DNA mutations could be detected early on. It is also a nice fact to include on how more than half (3,500 out of 7,500) of known genetic diseases have been identified through the faulty genes. Lastly, the review does a great job in depicting the global outcome of these tests. In figuring out these diseases early on, doctors will be better able to diagnose the rare diseases from an early age in babies, which can effectively help them.
ReplyDeleteI believe there could have been more work during certain parts of the review. I would have personally liked to have been more informed about the ethical dilemma in these tests. Gina does go into mentioning how they can detect diabetes and Alzheimer’s, but it would have been more interesting to hear if doctors willing do not tell parents these defects, or if they are forced not to tell, and so on. Also, it would have been insightful to hear how much of this testing is going on, since, with the cost and ethics being a problem, it is obviously not a huge test yet. How many people has the test actually helped or even saved with the early diagnosis of rare diseases?
Lastly, I was utterly intrigued when I read about the larger picture of this test having the potential to save millions of lives. It is understandable that other issues have to be met, such as the actual cures to these genetic diseases, but it is nice to know scientists have already conquered one step towards saving millions. Early detection of these diseases is extremely important, according to this review. Also, how these tests themselves
Marika Chrisanthopoulos
ReplyDeleteAP Biology Commentary
October 8, 2012
Commentary on: Gina Elbert’s Review of “Infant DNA Tests Speed Diagnosis of Rare Diseases” by Gina Kolata
The article “Infant DNA Tests Speed Diagnosis of Rare Diseases” from The New York Times is definitely one to be commended and excited about, for scientists and regular people around the world. The article talks about how scientists have made breaking discoveries with new technology about how to diagnose babies with certain rare diseases by tracing the deformities and mutations in their DNA while they are still very young in order to treat and take care of them as soon as possible. Gina’s review on this article is very well written as well; one thing she does well is describe the major details in the article, using examples of children that were affected with diseases and impacted by this new technology, including the girl with the seizures that did, unfortunately, pass away. Another thing that she also does well is that she talks about the improvements that this newfound technology will create as well, hypothesizing and predicting how it will change the future for the better. Because everyone has different DNA, it has always been difficult to study it, but now this will become easier, as Gina describes. One more thing that she does well is that she critiques the article and how it was written, as well as how the author could improve it and the fluidity of the writing.
One thing Gina could have improved on was describing the ethical dilemma involved in the technological advances, and how these dilemmas would be dealt with; would people be told or not whether their child was prone to develop some other deadly disease later in life? It would have also been nice to hear more about where this testing was taking place, and how accessible it is to the general public. How much, approximately, does it cost?
One thing I learned from this article is how scientists are using newfound technology to diagnose these rare diseases, and that scientists have found the genetic mutations for about 3,500 diseases out of 7,500 known ones, which is an amazing statistic. To figure out the specific mutations that are causing these crazy diseases is a huge accomplishment that science has made, and hopefully in the future, more mutations will be discovered in order to prevent and heal these diseases.
I thought that Gina's review "Infant DNA Tests Speed Diagnosis of Rare Diseases," was very well done. Her summary was put together very well and she was able to condense a great amount of very important information into a small paragraph. She did this very well because she did not leave out any of the necessary information, and she only included the important facts. This helped to outline what the article talked about in an easy way. I also liked the quote that Gina used, since it helped to prove her point, and it provided factual information from a reliable source. She also included the source, which is a very important detail. Finally, I thought that Gina's second paragraph, in which she talked about how this would affect the world, was well put and helped me to understand the implications of these studies better.
ReplyDeleteAlthough Gina's review was very well done, there are a few places where she could have improved. I found some of her sentences a little bit hard to follow, so she could have spent some more time cleaning them up and condensing them. Also, I would have liked for GIna to include some more information about the diseases that these studies will help diagnose. Even if these were not mentioned in the article, she could have done some outside research in order to find this out. This would have made her review more powerful.
I was amazed that doctors are making such great strides in the research of serious diseases. It is astonishing that they can now diagnosis people with diseases form birth, and I think that this will have a very positive impact on the world.
Overall, I thought Gina’s review on Gina Kolata’s article titled “Infant DNA Tests speed Diagnosis of Rare diseases” was very well presented. She explained the article in solid detail to the point where the reader could get an understanding. I liked how she used specific stories from the article along with some of the science behind the whole DNA testing process. Also, I liked how she provided some of the issues involved with the testing process including the limitations of science, ethics and the cost of these procedures, as they are not yet covered by insurance.
ReplyDeleteThough I thought her review was very well written, there were a few things that I would have added. For example, I would have described the science behind the DNA tests so the reader could get a better understanding of what they are doing and how they are doing it. Also, I think she could have described the specific case studies the scientists had performed in more detail, as it would again allow the reader to get a better understanding of what they are doing.
One interesting thing that I learned from this review is that from the study of DNA and what they know about genetic mutations, scientists will be able to predict, with certainty, what diseases the infant might have. This is kind of hard to wrap my head around because through these studies, scientists will be able to decide the fate and futures of these little infant children.