Although this was supposed to be a simulation, the whole thing felt real. For some reason, I felt the burden of all the world in my hands. It feels funny to say that, but it was such a cool experience. It wasn’t the real thing but it brought me close to it. The role I played was the ambassador for “Other Developed Countries”. It was cool. I was not like the main country like the U.S. but it still felt like my countries could make a huge impact.
Before this simulation, I had certain views about solving the climate crisis. This simulation changed all that. I did not understand the extent of the other factors we had to take into account when making decisions. For example, it was hard to get the under-developed countries to enforce policies due to corruption that existed in their countries. The under-developed countries needed money which they didn’t have. Some developed countries did not want to give them this money. There were so many things to factor in that making a group decision was rather difficult.
At first, my group was actually rather stingy with our money and had other ideas of solving this crisis (hint: the suggestion was peaceful). One of our group members suggested invading the under-developed countries. The thing is that our countries weren’t causing the main problems. The under-developed countries were causing all the problems in terms of pollution. China was also one of the top causes of all the pollution. The next problem was the fact these countries were under-funded (except China). Our country did not have as much as money as countries such as the U.S. or China to give. Our stinginess led to a stalemate. No country wanted to give money. Since no country gave money to the under-developed countries, they didn’t put any sanctions in place. We decided to break this stalemate. Our group changed our minds and pledged $50 billion if USA pledged at least $100. This led to better deal making with all the countries.
I definitely think emissions can be cut, but it is very very difficult to get them cut. In an ideal world, all the countries would work together to solve this crisis. US pulling out of the Paris accords did not help at all. If the countries dropped their egos and worked together, we could solve the crisis we have right now.
The biggest thing that was holding us back was the selfishness of everybody. Not a single country was selfless and that was understandable. Obviously nobody wants to give up a lot without receiving a lot. This problem was holding us back. Eventually, we overcame it. In real life, it is much harder to solve this problem.
I think the best change that the U.S. can make is in the government. Lobbying plays a huge part in stopping the climate crisis. Oil companies pay politicians so they can pass bills that allow unhealthy stuff to go on. If oil companies are monitored closely, we can solve a lot of the pollution the U.S. produces. Taxes on the companies can give us the money to give to the under-developed countries.
For my outreach project, I went to Clark Central High School to help a high school class record results from a lab. For the class period, I was with a third of the class and their group’s sleeve of Petri dishes. We sorted the dishes into their respective groups based on their set number and strength of antibiotic. I then had them count the bacteria colonies and record the information in a spreadsheet.
I enjoyed this experience as I was able to talk to many of the students and answer their questions about UGA and the differences between college and high school. My group was very respectful and asked good questions and I was able to answer most of them with what I believe is good advice. The majority of questions were about the UGA admissions process and I feel like I was able to help them out.
Through this outreach experience, I was able to broaden my knowledge of that particular lab as I had a more involved position at Clark Central. I was also able to act in a mentor role as the high school students all looked up to me and the other college kids that were there to help.
The Chinese government has started collecting the genetic information of Uighur Muslims, an ethnic minority group in Western China. This is happening while the Chinese government is currently detaining as many as 1 million people in internment camps. Although they claim they have not been hurting them, there is much speculation as to what the Chinese government is doing in these camps(5). They claim they are using the camps to re-educate the Muslims and assimilate them into Han Chinese culture, very similar to the Native American internment camps that the United States and Canada used to have. To collect the Uighur DNA, the Chinese government will make the population come in for mandatory health checks, where they will then draw their blood and use that to collect and store their genetic information without their consent. In many cases, they were strongly coerced into giving up their genetic information(3).
What
technology is being used?
The DNA being collected is primarily used to distinguish between ethnic groups. Uighur DNA is compared to samples from other ethnicities. The DNA is genetically compared using microarray-based autosomal DNA testing(3). Paternal ancestry is tracked by looking at the y chromosome while maternal DNA is tracked by looking at mitochondrial DNA. The genomes collected are then parsed up into pieces or separate SNPs or haplotypes. They then compare the haplotypes in the sample to haplotypes from a database, which allows them to see in which ethnicities these haplotypes are most common and match the DNA sample to the ethnicity it most likely came from based on its genetic information(2).
Where
are they getting this technology?
China got their technology from the United States company
Thermo-Fisher. Thermo-Fisher sells lab equipment, DNA testing kits, and DNA
mapping machines to help scientists determine a person’s ethnicity and identify
diseases they are susceptible to. China accounted for 10% of Thermo-Fisher’s
revenue. In addition, genetic information to use to compare to Uighur DNA was
provided by Yale geneticist Kenneth Kidd(3).
What
are the uses of this technology?
This genetic technology has been widely used not only by
China. In the United States, it can be used to track down criminals. If a
family member gives their genetic information to databases like 23 and me, the
US government can then use that family member’s data to trace criminals and
solve crimes that were unsolvable before(5). Many people are glad that this
technology exists to catch criminals, but issues like those in China raise
issues on the ethical issues that might arise if this technology is used for
the wrong reasons(3).
Why
are they collecting this data?
In patents filed in 2017, the Chinese stated that they are collecting this data to help them determine the geographical origin of criminals by collecting DNA samples from the crime scene. They also cite this as a way to stop terrorism(3). The government has had a long history of treating Uighurs as a threat. Many Chinese citizens believe that they are terrorists, and they have been accused of many violent acts of terrorism throughout this decade. They put them in internment camps to try to ensure that they remain loyal to the Chinese government(3). The Chinese say they are collecting this DNA database to track any Uighur Muslims that try to leave the detainment camps.
What
issues does this raise in general?
Many scientists are worried about the fact that the Chinese government entered the Uighurs genetic information into a global database when they are not sure that their data collection was consensual. This violates many privacy concerns, both in the scientific community and abroad(1). It is also a big issue that the Chinese government could be using this technology to keep an entire population trapped with no way to escape.
Parallels
in United States?
What happens if the United States citizens DNA ever got
into the hands of the wrong people. Even though now, the government has special
privacy protections, if that ever changed, the DNA on file is permanent and can
easily be abused. In addition, many companies that collect DNA, like 23 and me,
do not reveal who they give the DNA to, so users are at risk. They also do not
compensate those who give their DNA for adding their DNA to global databases.
Especially with online data theft, this is especially a concern. There are some
benefits, such as catching criminals or individual benefits such as determining
what diseases people may be at risk for, so they can take preventative
measures. However, even in the United States, there are discussions about the
possible risks(1).
What
issues does this raise for the United States?
Dr. Cavlan stated, “Honestly,
there’s been a kind of naïveté on the part of American scientists presuming
that other people will follow the same rules and standards wherever they come
from,”. This is very accurate. Even though Americans or other western countries
create new technology and develop rules to regulate its use, often times this
technology can get into the hands of countries who do not have the same
standards, and it can be used to fuel genocide or other human rights violations(5).
This is important as developed countries begin to create more high-tech genetic
tests that can be used in other ways to violate human rights. The United States
and other developed nations should ensure that they are protecting these tests
or at least ensure that people worldwide are not being oppressed using this
technology.
Should people be held accountable?
Thermo Fisher says they were unaware of what China was using the technology for, and they have also agreed to stop selling their technology to Xinjian province, where the DNA collection is happening. In addition, Kidd says he thought the Chinese were following the worldwide norm of requiring consent to collect DNA(3). However, they still contributed to human rights violations with no repercussions. There should be a significant discussion as to whether or not they should be held responsible for the repercussions of their contributions.
Why
is this important?
As these technologies develop, it is important to consider their ramifications and effects. Even if the United States or other western countries have some form of regulation, often other countries do not. The Uighur Muslims are just one example of the potential for genetic testing to be used to oppress different groups. It is important to consider how we as citizens can work ourselves and also hold our governments accountable for ensuring that these technologies do not violate any human rights. This is important both for the sake of helping others but also for protecting ourselves in the future.
Works Cited:
AncestryDNA®
– Frequently Asked Questions (United States). (n.d.). Retrieved November 14,
2019, from https://www.ancestry.com/dna/en/legal/us/faq#about-3.
Curtis, R. (2015, May 5). AncestryDNA |
Breaking Down the Science Behind Ethnicity Results | Ancestry. Retrieved December
1, 2019, from https://www.youtube.com/watch?v=o0mVUu2kRcs.
Haas, B. (2017, December 13). Chinese
authorities collecting DNA from all residents of Xinjiang. Retrieved November
14, 2019, from https://www.theguardian.com/world/2017/dec/13/chinese-authorities-collecting-dna-residents-xinjiang.
Raven, K. (2018, November 18). Is an At-Home
DNA Test an Ideal Gift, Really? Retrieved November 14, 2019, from
https://www.yalemedicine.org/stories/at-home-genetic-test-kit-holiday-gift/.
Wee,
S.-lee. (2019, February 21). China Uses DNA to Track Its People, With the Help
of American Expertise. Retrieved November 14, 2019, from https://www.nytimes.com/2019/02/21/business/china-xinjiang-uighur-dna-thermo-fisher.html.
Male pattern baldness is a very common trait that affects around fifty million men in the United States, roughly fifty percent of the male population by the time that they reach fifty years of age, and eighty percent by the age of eighty (MacGill). Male pattern baldness is where hair thins out on the top and front of a man’s head causing a receding hairline and patchy hair. There are over 250 genes with genetic variations that impact male pattern baldness. The AR gene that codes for androgen receptor protein is one of the most important genes when it comes to hair loss. The main function of the androgen receptor protein that relates to hair follicles is to help hair follicle cells detect androgen hormones like testosterone. The testosterone affects whether or not a person’s hair will grow and how it grows. If these genes were altered, it would completely change the way that the hair grows and whether the hair grows or not (The Genetics of Baldness).
Why Get Tested?
Someone
would want to get this test to determine whether they are likely candidates to
get male pattern baldness. I would recommend taking the 23andMe genetic test as
it is a fairly cheap way to determine if you are likely to have male pattern
baldness. The 23andMe tests can range anywhere from $80 to $100 depending on
where you buy it from. The 23andMe test is not 100% reliable but if the results
say you are going bald, then you are most likely going bald. The test is less
reliable for non-Caucasian ethnicities, but still pretty reliable. Male pattern
baldness is hard to prevent, but if a man begins taking medications to slow hair
loss or to try to regrow hair. While male pattern baldness is not something that
is desired among American men, no health effects come along with it. Male
pattern baldness is purely aesthetic as no man with male pattern baldness is at
an increased risk of any disease because of the condition.
Think Before
You Spit
If
someone is uncomfortable with their genetic information being known by a large
organization, they should not take this test. 23andMe has resisted getting the
FDA to approve their test to be a “medical
device” on multiple occasions and has avoided contact with the FDA, so there
are certain sketchy elements of the company (Seife). If a person would rather
not know the likelihood of them getting male pattern baldness, they should not
take this test. The test is not 100% accurate so it is possible for someone to
take the test, have the results say that they will bald, and then not have male
pattern baldness.
Ethical
Considerations
The
consumer who purchases and takes the 23andMe test must think it is acceptable
for the company to have their genetic information stored. The consumer must
also be prepared for the stress and sadness of a possible test result that puts
them at higher risk to get male pattern baldness or something worse, such as something
that is life-threatening like cancer. I could not find any studies on how
people react to male pattern baldness, most likely because male pattern
baldness is not life-threatening, only potentially depressing.
Asking the
Right Questions Before Getting the Test
Genetics
is the most influential factor for male pattern baldness as 79% of cases are
hereditary, but it is not the only factor (Myth Busting). Stress is also a
cause of hair loss, so if someone is constantly in stressful situations, they
become more likely to develop male pattern baldness. Generally, the most
important relative for male pattern baldness is the maternal grandfather. Male
pattern baldness is an X-linked trait so it is passed down along the mother’s
side of the family. Whether or not a person’s maternal grandfather has male
pattern baldness is extremely influential on whether or not the person will
have male pattern baldness. There is not much that a person can do to prevent
hair loss, so if a person takes the test and it comes back positive for male
pattern baldness, they can only take medications to slow hair loss like
Finasteride or try products like Rogaine to try to regrow hair.
Citations
Baldness. SNPedia. https://www.snpedia.com/index.php/Baldness. Accessed November 14, 2019.
MacGill M. Male
pattern baldness: Causes and treatment. Medical News Today.
https://www.medicalnewstoday.com/articles/68077.php. Published July 28, 2017.
Accessed December 10, 2019.
Myth Busting: The
Baldness Gene. hims. https://www.forhims.com/blog/baldness-gene. Accessed
November 14, 2019.
Seife C. 23andMe Is
Terrifying, but Not for the Reasons the FDA Thinks. Scientific American.
https://www.scientificamerican.com/article/23andme-is-terrifying-but-not-for-the-reasons-the-fda-thinks/.
Published November 27, 2013. Accessed November 14, 2019.
The genetics of
baldness: More complex than you might think. Helix.
https://blog.helix.com/male-pattern-baldness-genetics/. Published July 23,
2019. Accessed November 14, 2019.
For my service outreach project, I did the tailgating cleanup. The cleanup took place after the UGA vs. Missouri game. We met behind O-house at 11 am and had some pizza. We then “suited” up. Armed with those little-cool-grabber-thingys, we set out to find any trash to clean. One thing I really appreciate about UGA fans is that they actually take care of our university when tailgating. I was expecting a lot of trash. I was expecting to come back with two full bags of trash. To my surprise, the campus was rather clean. We came back with about the bag 1/100th full.
My group and I took the path from behind O house to Bolton. We did not find much trash except the occasional gum wrapper or granola bar wrapper. The major amount of trash we found was near Bolton dining commons. We found some beer bottles and cans in the stream that ran behind Bolton. This was pretty much the only trash we found. So, we returned back and disposed of all the trash we collected.
In my opinion, this was a great outreach. It gave me a chance to clean up the campus with a purpose. It educated me about where most trash ends up on campus. I was proud to know that our University does such a great job of cleaning up after tailgates.
About 9% of Americans have diabetes. 95% of people with diabetes have type 2. (1) This means that it is likely that one of your family members, friends or even you could develop this disease! Type 2 diabetes normally develops in adults and can lead to death. It is important for you to catch warning signs of diabetes early because it can be prevented. You could develop diabetes from genetics but also from environmental factors. Approximately 70 genes have genetic variations that can impact the trait. (1)
The five most common genes that are associated with type 2 diabetes are TCF7L2, ABCC8, CAPN10, GLUT2, GCGR. (4) TCF7L2 affects insulin secretion and glucose production. ABCC8 helps regulate insulin. CAPN10 is in Mexican-Americans and is associated with type 2 diabetes risk. GLUT2 helps move glucose into the pancreas. GCGR is involved in glucose regulation. (2)
Each gene only contributes 1-2% more risk to developing type 2 diabetes but the more you have the more at risk you are. (3) Environmental factors are more influential than genetic!
Someone could get a genetic test for type 2 diabetes so they can see how at risk they are of developing it in the future. Blood tests are more accurate but more expensive. (1) However, I would not recommend taking one of these tests considering the low likelihood of these genes affecting your chances of getting diabetes.
You might not want to take one of these tests if you have had no one in your family that has had type 2 diabetes and you live a healthy lifestyle. Environmental factors have a large impact on someone’s likelihood of developing type 2 diabetes so eating right and staying active can help you prevent this. (4)
If you do decide to take a genetic test and you test positive for having a gene variation that can cause diabetes, you should get further testing by your doctor to test your glucose levels and see if you already have it. (1) If you don’t, it will be less likely that it will develop if you are healthy, so get active and eat right as well as quit smoking if applicable to lessen your chances of developing it. Eating less sugar as well as keeping your immune system strong are very important. This is why quitting smoking can be detrimental for many people with diabetes. If the test comes back negative, you can still be at risk of developing diabetes so you must also say healthy in order to lessen your chances. You may also want to get regular glucose tests.
Overall, I do not recommend taking a genetic test for type 2 diabetes. There are so many other factors that go in to developing diabetes that it is not worth the cost of paying for a test. I recommend staying as healthy as possible by eating right and exercising regularly. Also if you are very concerned for your risk of having diabetes, get regular check ups with your doctor!
Resources
(1) Dean, Laura. “Genetic Factors in Type 2 Diabetes.” The Genetic Landscape of Diabetes [Internet]., U.S. National Library of Medicine, 7 July 2004, www.ncbi.nlm.nih.gov/books/NBK1665/.
Alcoholism, also known as alcohol addiction or alcohol dependence, is one of the most dangerous and life-changing diseases in the world. Known as a chronic disease characterized by uncontrolled drinking and preoccupation with alcohol, alcoholism affects approximately 15 million people in the United States alone. While some social and environmental factors contribute to the development of alcoholism, a significant factor in increasing someone’s predisposition toward the disorder is genetics, with scientists indicating there may be up to 51 genes possessing variations that can impact the trait. (5) For example, one study of Japanese males show that individuals possessing a specific variation of rs1076560—located in the dopamine receptor D2 gene—were 1.3 times more likely to be affected by alcoholism. (6)
While no widely-used genetic test for alcoholism exists, many gene variations that can lead to alcoholism have been identified. In particular, scientists at Indiana University identified a panel of eleven genes that can help predict if an individual is at an increased risk for alcoholism. (4) Given this information, I recommend that people who believe they may be at risk for alcoholism should take a SNP chip or SNP array test to identify these genetic variations. The test costs about $278, and interested individuals can use the internet to hire companies such as Ambry Genetics to perform the test for them. Individuals may want this information so they can decide to be cautionary with their use of alcohol or abstain from using alcohol all together. However, since genetics only plays about 50% of a role in causing alcoholism (with the other half being social and environmental factors), a genetic test would only be somewhat accurate in its determination of risk of alcoholism. An Emory University epidemiologist even said the results of the Indiana Study in predicting alcohol problems are about as accurate as flipping a coin. (3)
While getting such a test done can give an individual a better idea of whether or not they are at an increased risk for alcoholism, they must realize that this test is not completely accurate and a host of non-genetic factors also contribute to being affected by this disease. Environmental risk factors such as family of origin, lifestyle choices, and incidence of stressful events play a role. Also, psychological factors like the presence of depression and other mental illnesses can play a large part in causing alcoholism as well. Even dismissing the myriad of other elements, genetic testing for addiction and alcohol abuse still are not very accurate due to scientific ignorance. In 2012 researchers concluded that, “more than 95 percent of the genetic variance remains unaccounted for, indicating that most of the genetic risk factors for addiction have not been discovered yet.” (5)
There are both positive and negative implications if one tests positive for alcoholism-related genetic variations. For instance, if someone tests positive, and they have not used or frequently used alcohol they can stop using it altogether to prevent the development of a serious problem. Additionally, if someone believes they may have a problem with alcohol abuse, getting a test done may be the confirmation they need to start seeking help. On the other hand, positive test results can have negative implications like causing a person to be unnecessarily fearful or hesitant to use alcohol even when the risk of developing alcoholism is very low. The most significant negative consequence, however, is that a positive test result may lead the patient to have more negative thoughts and therefore a greater desire to drink. This was found to be the case in a study conducted by researchers at the University of Sydney. (1)
While parents can definitely pass down genes resulting in alcoholic tendencies down to their children, the chances of this happening are difficult to calculate. This due to the fact that with some diseases only a few key genes are needed to be at an increased risk, but with alcoholism hundreds of genes in different combinations can cause an increased risk. Therefore, determining which genes the parent or parents would pass down to the child is difficult. With that being said, studies have shown that children with one or more alcoholic parents are approximately 4-8 times more likely to develop alcoholism than children without alcoholic parents. (2) But, again, since alcohol dependency is caused by both genetic and environmental factors, these statistics don’t definitively mean the risk of disease was passed down genetically from parent to child. If someone does test positive for the genetic variation associated with this disease, they should consider exercise and a healthy diet to maintain good mental health as well as abstain from alcohol and drugs or only use these substances in moderation.
If someone has a history of alcoholism or mental illness in their family, they should consider taking a SNP chip or SNP array test to see if they may possess genetic variations that can increase their risk of developing alcoholism. However, they should know that the results of the test may not be completely accurate and that a host of other factors can contribute to alcoholism. If someone believes they may be at an increased risk for this disorder, they should use alcohol with caution or not at all and maintain good mental health through exercise and a supportive network of friends and family. If someone believes they already have developed alcoholism, they should consider going to their nearest AA (Alcoholics Anonymous) meeting place or call the SAMHSA (Substance Abuse and Mental Health Services Administration) helpline at 1-800-662-HELP.
2) Institute of Medicine (US) Committee on Prevention of Mental Disorders. “Risk and Protective Factors for the Onset of Mental Disorders.” Reducing Risks for Mental Disorders: Frontiers for Preventive Intervention Research., U.S. National Library of Medicine, 1 Jan. 1994, www.ncbi.nlm.nih.gov/books/NBK236306/.
For centuries
expecting parents have worried about the health of their babies. Pregnant women
often follow strict instructions from their doctors to keep their fetuses
healthy, but no amount of special diets or exercise regimens can prevent
genetic conditions if the fetus has the right genes. As our confidence in
science has grown more and more people have looked toward scientists and their
research as the saving grace for these families. And it’s looking like the scientists
of the world have delivered.
For years the idea of editing the genes of unborn babies seemed like nothing but a pipe dream to some and an ethical nightmare to others, but now it is looking like this could be a real possibility in the future. So where are we with in utero gene editing? And what do we need to know?
A study that has
encouraged many was released in April of 2019 by a group of scientists from the
University of Pennsylvania which showed they were successful in increasing the
survival rates of lab mice with the gene for a lung disease which, without
editing, results in death within an hour of birth.
These scientists used CRISPR, a gene-editing technology that allows scientists to edit the genetic code of living things, to do this. CRISPR works by essentially “cutting” a specific gene and then “pasting” the desired gene variant in its place (Metcalfe, 2018). Specifically, this experiment used CRISPR-Cas9 which was injected into the placenta of pregnant mice whose unborn pups had the mutation that causes fatal lung disease. When the unborn pups took in the amniotic fluid, they also took in these CRISPR elements which then began to edit their DNA. Of the mice who were edited with CRISPR, 25% survived compared to those who were born with the gene who all died. This is promising. It has encouraged many of those who support the idea of in utero gene therapy, but the experiment also raises some concerns.
One major concern is that when the CRISPR-Cas9 was delivered in vitro there was a high mortality rate among the unborn mice pups. This may be due to the small size of mice in general but with so little data on how this affects larger animals, human testing would be ill-advised. The mice also did not need the gene the mutation was on to survive, allowing the researchers to simply remove the gene. Most human mutations we would look to “cure” in the womb are on genes that we still need and so a far more delicate and complex process would likely need to be undergone when using gene therapy on human fetuses.
There
are other concerns for in utero gene editing in humans. One of the largest is
that of the mother and her health. We do not know how the mother’s body could
react to the introduction of this foreign agent, extreme immune responses are
possible and could pose a danger.
Ultimately,
we do not know enough about in utero gene editing for it to be a viable option
anytime soon. The results we have are promising but they are far from
conclusive and much more needs to be known before human trials begin. That
being said in utero editing is looking for more possible now than it ever has
before and the ethical questions that come with such a discovery are becoming
increasingly relevant. As questions about genetic editing in utero are steadily
changing from can we to should we, people are beginning to ask questions like: Could
this technology be misused? Could it lead to a rise of Eugenics—which most
associate with Hitler and his obsession with creating the “perfect” Aryan race?
And perhaps the biggest question of all: Are we playing God editing the genes
of unborn children?
At the same time that many are asking these questions, we must also think about the benefits of such technology. We do not know everything that CRISPR may or may not be able to do in the future, and some of these concerns may ultimately be unfounded. This technology could be revolutionary and save countless lives in the future and that must also be taken into account. While it is easy to think of the worst-case scenarios with any new technology there is also danger in letting our fears control us. Luckily for those of us attempting to understand the ethical implications of such technology it will be sometime before in utero gene editing becomes a viable option. In this time, we have we should continue to do research and discuss the questions and concerns we have so that when it does become a more realistic option we are not left floundering as to how to use and regulate such technology.
References
Alapati, D., Zacharias, W. J., Hartman, H. A., Rossidis,
A. C., Stratigis, J. D., Ahn, N. J., … Peranteau, W. H. (2019, April 17). In
utero gene editing for monogenic lung disease. Retrieved November 14, 2019,
from https://stm.sciencemag.org/content/11/488/eaav8375.
Hou, C.-Y. (2019, April 19). Mice Gene-Edited While Still
in the Womb. Retrieved November 14, 2019, from
https://www.the-scientist.com/news-opinion/mice-gene-edited-while-still-in-the-womb-65767.
This is a graphic depicting a gloved hand editing an enlarged DNA strand. (2018). Retrieved from https://geneticliteracyproject.org/2018/08/06/what-is-crispr-and-why-should-you-care/
Do you know a family member, friend, or mutual friend who has been affected by prostate cancer? Chances are, you do. Studies show that about 1 in 9 men will develop prostate cancer throughout their lifetime. This results in it being the second leading cause of cancer death for men in the United States. Although it is dangerous, the five-year survival rate of prostate cancer is almost 100%, and more than 60% of people diagnosed with prostate cancer are over 65 years old. If the cancer has spread to other parts of the body, however, the five-year survival rate is closer to 30%.
There are three genes that are primarily associated with prostate cancer: BRCA1, BRCA2, and HOXB13. Mutations to these genes are what can cause prostate cancer. These mutations are inherited in an autosomal dominant fashion, which means that if one of the parents has the mutated gene, then there is a 50% chance that the child will have the mutated gene. Having the mutation does not guarantee inheriting prostate cancer, but it does increase the likelihood.
BRCA1 and BRCA2 function to produce proteins that fix damaged DNA and prevent cells from growing and dividing more than normal. When these genes are mutated, it can disable the functionality of these proteins which leads to cells quickly developing and growing, resulting in a tumor. HOXB13 causes the production of proteins that bind to DNA and regulate the production of other genes and also acts as a tumor suppressor. When this gene is mutated, it can cause the same effect as when the BRCA1 and BRCA2 gene are mutated.
Due to rapid progressions in technology, genetic testing is becoming more and more common. People may want to have their BRCA1, BRCA2, and HOXB13 genes tested in order to see if there are mutations that could make them more at risk for cancer. Testing for mutations in these genes can help individuals and families in several ways. If the test results in no genetic mutations, families can be granted the peace of mind that the individual who was tested is at a very low risk of developing cancer. If the test comes back positive for genetic mutations, individuals and families can proceed with caution and check in more with their doctor to ensure that if they do end up having cancer, they can catch it early on and minimize risk. One downside of testing is that if there are genetic mutations, it does not guarantee concluding in cancer. This can cause unnecessary stress for families worried about a member getting cancer later on in life.
The most recommended test for prostate cancer is the PCR with allele specification hybridization testing. For only around $25, someone can find out if they have a mutation in one of those genes. The problem with this test is that only around 10% of men with stage four prostate cancer will test positive for this gene. This makes it harder to justify getting the test because you have to interpret the results with a grain of salt. One reason why it might be important to get tested is because prostate cancer is not only hereditary, so someone might think because of a clean family history they are not at risk, but in reality, they should still be cautious.
With men in general having a 1 in 9 chance to have prostate cancer, that number jumps down to 1 in 5 if someone in your family has had prostate cancer. This encourages individuals with a family history of prostate cancer to get tested for the genetic mutations. One issue with the genetic mutations is that mutations in BRCA1 and BRCA2 doesn’t necessarily mean prostate cancer. These genes have also been linked with cancers such as breast cancer. Although it may not specify which type of cancer, it can still be vitally important to understand that you are at a higher risk in general of any type of cancer by having mutations in these genes.
Although genetic testing seems like only a good thing, there are also some cons to it. When testing for these mutations, some results turn up uncertain. This means that you would have wasted time and money to get no valuable answers. The biggest problem with genetic testing for prostate cancer is if the results come back displaying no variations in genes. Having no variations does not make you immune to cancer. Your chances of having cancer without these mutations are lower, but they still exist. Receiving the results of no genetic mutations can give someone a false sense of hope of not having cancer, which can lead to finding out one has cancer later than desired. The post from Virginia Oncology Associates does a great job of clarifying the pros/cons and risks/rewards of genetic testing in general [https://virginiacancer.com/treatments-services/services/genetic-testing/advantages-disadvantages-of-genetic-testing/].
If you do test positive for these genetic mutations, it is recommended to consult with your doctor. The first thing that you should do is make lifestyle changes if necessary. Exercising, eating healthy, not smoking, and other good lifestyle choices can reduce the risk of developing prostate cancer. Avoiding high-fat and high-dairy meals while accompanying fruits and vegetables with every entree is the best diet to minimize risk of prostate cancer. Another common next step is to perform a prostate specific antigen blood test, which will indicate essentially how likely you are to have prostate cancer. Depending on the results from this blood test, your doctor may or may not recommend further testing.
With all of this information in mind, remember that it is always a good idea to be proactive when it comes to your health. Whether or not you choose to undergo genetic testing, a healthy lifestyle is the best way to take care of your body.
Work Cited
Facing Our Risk Of Cancer Empowered. (2017, August 11). Who Should Consider Testing? https://www.facingourrisk.org/understanding-brca-and- hboc/information/hereditarycancer/decision_making_testing/basics/genetic-testing-prostate-cancer.php
Urology Care Foundation. (2018). Genetic Testing For Prostate Cancer: What You Should Know. https://www.urologyhealth.org/patient-magazine/magazine-archives/2018/fall-2018/genetic-testing-for-prostate-cancer-what-you-should-know
Rett Syndrome (RTT) is a neurological disorder that causes impairments that impact every aspect of someone’s life. This includes their ability to eat, speak, walk, and/or breathe easily. The disorder is almost only found in girls and is a postnatal disorder, meaning that symptoms develop after the child is born, typically after 6 months of age (NCBI). The mutation that causes RTT is on a gene that controls the expressivity and functions of other genes. An individual’s inability to perform daily actions is caused by the mutated gene interfering with cell communication and protein production. Life expectancy for those with Rett Syndrome is shortened and most patients live into their 40s or 50s (“Rett Syndrome: Frequently [. . . ]”). During those years, there is often no improvement of the condition though individuals can participate in various types of therapy to lessen their symptoms and help them communicate. In most cases, the condition does not decline, however, meaning that after the first couple years the state of the affected individual will not worsen as they get older.
What’s the trait?
Rett Syndrome is caused by mutations on the MeCP2 gene that is found on the X chromosome, the reason it is found almost exclusively in females. The disorder affects about 1 in every 10,000 births, a very rare condition (NCBI). MeCP2 is a methylation protein, so in the DNA it turns off certain genes (i.e. muscles don’t need to produce neurons, etc.) but the mutation turns off genes that it’s not supposed to, a phenomenon called X-inactivation. The mutation is also linked to various other diseases including Angelman syndrome and lupus (MECP2).
Why get tested?
Genetic testing can be done with a simple blood test and is the primary way to confirm diagnosis for Rett Syndrome. The primary gene involved with RTT is the MeCP2 gene that essentially is in charge of turning on and off certain genes based on their function and the area that they are contained in. With the results families are also able to learn about the specific mutation that their child has. There are many clinical trials taking place and testing positive for RTT is one step towards being eligible for these trials. By obtaining test results, the information can also be used, with permission, to increase the current knowledge of Rett Syndrome and MeCP2 mutations (“Rett Syndrome Diagnosis”). The most cost-effective test would be a single DNA gene sequencing test, as there is only one gene currently known to be associated with RTT. This test ranges from $100-$300. A test that confirms a mutation in MeCP2 does not necessarily confirm Rett Syndrome, as mutations on the gene are also associated with other disorders. Results showing a mutation on the MeCP2 gene indicates a small range of disorders and determining which mutation the individual has as well as a doctor’s diagnosis of the symptoms will be able to tell you and your family if your child has RTT (MECP2). The majority of RTT cases are caused by a mutation on MeCP2, however there are a few situations where this was not the case. Therefore, if the results are negative there are is a small chance your child could still be affected, but this is largely depended on the symptoms they are showing and the doctor’s analysis.
Think Before You Spit
While there are certainly benefits to getting tested, there are potential downsides as well. As mentioned above, 80-97% of cases are caused by mutations in the MeCP2 gene but there is a small chance that the results could be negative and the individual still be affected. It should also be considered before ordering testing that this disorder is not inherited. Understanding a family member’s gene sequence would not provide any information as to whether or not the child is likely to be affected as less than 1% of cases are inherited from parents, and having one child with Rett Syndrome does not increase the chances of having a second child with the disorder (“Rett Syndrome: Testing [. . . ]”).
Ethical Considerations
When ordering a DNA test for Rett Syndrome, it is likely going to be from doctor’s orders rather than an at home test. This means that the results will be less commercialized and that the privacy around the results will be higher. Single gene sequencing cost is not as high as other testing options but could still be a burden on families, as well as the post-results resources needed for helping with care. The emotional burden of finding out the results will likely be lower than being tested blindly. Getting tested means that you are confirming a doctor’s diagnosis, so families will have already received the news. A positive result would most likely be the best outcome, because it is confirming previous suspicions. A negative result could lead to further testing to understand what is causing the child’s symptoms and potential confusion before finding a diagnosis.
Asking the Right Questions
Most people understand that their genes can be passed down to their children, but it is important to understand that Rett Syndrome is not passed down through genetics. It’s a rare mutation that occurs sporadically, so a child testing positive for RTT does not increase any family member’s chances of having the mutation. While it is possible for someone to be an asymptomatic carrier, this happens in less than 1% of cases and prenatal screening can be completed in these situations (“Rett Syndrome Fact [. . . ]”). Families should be prepared to explore further testing options if the results are negative, as it would be necessary for diagnosis. Testing for Rett Syndrome without doctor recommendations is not suggested, as the test is gene specific and the disorder is very rare. However, if someone does get tested and the results are positive, it is highly recommended to share these results with the doctor in order to become more knowledgeable about resources and support.
All evidence points to getting tested if diagnosed by a doctor, as it is the only way to confirm the diagnosis. Individuals are also eligible for clinical trials if they test positive, and there are no clinical downsides to getting tested. One study pushes people to get tested if diagnosed because once the mutation is confirmed, researchers can look at the early childhood of the individual to help understand “the early phenotype of RTT” (Marschik, et al). There are a multitude of studies working to explore and understand Rett Syndrome, but there are almost no studies on the negative side of being tested.
Sources
Huldie, Janine. “Rett Syndrome Awareness for One and All… – Janine’s Confessions of a Mommyaholic.” This Mom’s Confessions, 19 Dec. 2016, www.janinehuldie.com/1051/.
Marschik, Peter B, et al. “Early Development in Rett Syndrome – the Benefits and Difficulties of a Birth Cohort Approach.” Developmental Neurorehabilitation, Taylor & Francis, Jan. 2018, www.ncbi.nlm.nih.gov/pmc/articles/PMC5796587/.
National Center for Biotechnology Information (US). “Rett Syndrome.” Genes and Disease [Internet]., U.S. National Library of Medicine, 1 Jan. 1998, www.ncbi.nlm.nih.gov/books/NBK22188/.
“Rett Syndrome Fact Sheet.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, 13 Aug. 2019, www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet.
“Rett Syndrome: Frequently Asked Questions: Boston Children’s Hospital.” Boston Children’s Hospital, www.childrenshospital.org/conditions-and-treatments/conditions/r/rett-syndrome/frequently-asked-questions.
“Rett Syndrome: Testing and Diagnosis: Boston Children’s Hospital.” Boston Children’s Hospital, www.childrenshospital.org/conditions-and-treatments/conditions/r/rett-syndrome/testing-and-diagnosis.
