Uighur Muslim Genetic Testing Lauren Rose Wilkes

What is happening?

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

Edwin Shepherd

What is the Trait Being Tested?

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.

Is Genetic Testing for Type 2 Diabetes Worth It?

Nina Boone

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/.

(2) “rs4402960.” SNPedia, www.snpedia.com/index.php/Rs4402960.

(3) “Type-2 Diabetes.” SNPedia, www.snpedia.com/index.php/Type-2_diabetes.

(4) Winter, Sarah. “Genetics of Type 2 Diabetes: Environmental Factors, Prevention, More.” Healthline, Healthline Media, 5 Sept. 2019, www.healthline.com/health/type-2-diabetes/ genetics.

Is Alcoholism in Your Genes?

Hyde Healy

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.

Works Cited

“Home Genetic Testing for Alcoholism Carries Perils | CBC News.” CBCnews, CBC/Radio Canada, 11 Sept. 2012, www.cbc.ca/news/health/home-genetic-testing-for-alcoholism-carries-perils-1.1293265.

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/.

3) Janssens, Cecile. “Researchers Promise New Genetic Test for Alcoholism for Which They Found No Scientific Evidence.” HuffPost, HuffPost, 23 July 2014, www.huffpost.com/entry/researchers-promise-new-g_b_5371655.

4) “Panel of 11 Genes Predicts Alcoholism Risk, Gives New Insights into Biology of the Disease.” Newsroom, IU School of Medicine, 20 May 2014, https://medicine.iu.edu/news/2014/05/genes-predict-alcoholism-1/

5) Parkinson, Robert. “Genetic Testing for Addiction: 5 Things to Know.” U.S. News & World Report, U.S. News & World Report, 14 June 2017, https://health.usnews.com/health-care/for-better/articles/2017-06-14/genetic-testing-for-addiction-5-things-to-know

6) “rs1076560.” SNPedia, www.snpedia.com/index.php/Rs1076560.

The State of In Utero Gene Editing

Ashley Nelson

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.

Metcalfe, T. (2018, December 31). What is CRISPR? Retrieved November 14, 2019, from https://www.nbcnews.com/mach/science/what-crispr-ncna952696.

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/

Genetic Testing for Prostate Cancer

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

Genetic Testing Registry. (2018, July 3). Prostate Cancer. https://www.ncbi.nlm.nih.gov/gtr/tests/510771/

Genetics Home Reference. (2015, April). HOXB13 Gene. https://ghr.nlm.nih.gov/gene/HOXB13

Genetics Home Reference. (2015, April). Prostate Cancer. https://ghr.nlm.nih.gov/condition/prostate-cancer#diagnosis

SNPedia. (2016, June 14). Prostate Cancer. https://www.snpedia.com/index.php/Prostate_cancer

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

By Mary Catherine Meno

What is it?

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/.

“MECP2.” SNPedia, 6 Oct. 2015, www.snpedia.com/index.php/MECP2.

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 Diagnosis.” Rettsyndrome.org, www.rettsyndrome.org/about-rett-syndrome/rett-syndrome-diagnosis/.

“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.

Autism: Worth the Test?

by Danielle Hwang

With the rising uproar over speculations that vaccines cause Autism, there is a need to look into the causes of autism, especially to indicate that there is no credible evidence that indicated an actual connection between vaccines and the cause of Autism.

What is Autism?

In modern days, Autism is actually referred to as Autism Spectrum Disorder. Autism Spectrum Disorder is described by NIMH as a developmental disorder that affects communication skills and behavior.¹ This change in the name is due to the fact that the symptoms of Autism span over a spectrum. Therefore, symptoms are specific to each individual. However, there is still a set criterion used to diagnose the disorder, which are outlined in the DSM-5. These diagnostic criteria fall into five different categories: reoccurring lack of social skills (such as communication and interaction) in multiple scenarios, restrictive and repetitive acts of behavior, symptoms must be present in early childhood or developmental stages, symptoms must cause clinical impairment in the functioning of areas of one’s daily life, and lastly these impairments must not be better explained through other intellectual disabilities or developmental delay.²

In the US, it was determined that there are approximately 1 out of 59 children diagnosed with this disability during 2018.³

Genetic Relevance?

According to Genetics Home Reference, there are at least 1000 genes that are associated with the disorder, but not all of them have been confirmed (none of which are listed).⁴ Most of these associated genes (left unnamed in the article) have little effect in causing the disorder.⁴The specifics of the effects of these genes are not listed; however, it is known that the probability of these mutations combined together and with other risk factors, the risk of autism can be calculated. Therefore, autism is not cause entirely by genetic factors alone.

Other associated genes mutations are rare and happen in a single gene. One such genes is ADNP, which also causes ADNP syndrome (another intellectual disability).⁴The syndrome has additional conditions to Autism Spectrum Disorder. Another set of genes associated with Autism Spectrum Disorder are ARID1B, ASH1L, CHD2, CHD8, DYRK1A, POGZ, SHANK3, and SYNGAP1.⁴ Most of these mutations are used for brain development.⁴ Another gene that has a significant effect on the development of Autism is rs1858830.⁵ The allele for G;G codes for normal genes.⁶ However, the allele C;G is known to increase the risk of Autism development by 1.6, and the allele C;C is reported to increase the risk of Autism development by 2 fold.⁶ The specifics of how these mutations affect brain development is unknown.

Testing?

There has been a study that connected abnormalities of certain genes to the development of autism.⁷ This study recommends taking genetic testing as a precaution, given that not every family would follow the advice.⁷ However, other studies do not recommend using genetic tests as a method of diagnosis and even detection.

Similar to the other studies, the CDC (Centers for Disease Control and Prevention) does not include any medical testing (such as a blood test) as a method of diagnosis.⁸ Instead they use behavioral and developmental cues through developmental screening and comprehensive diagnostic evaluation.⁸

Despite genetic testing for Autism being possible, there is no actual test provided by companies.

It is important to note that since autism is a behavioral disorder, it is hard to diagnose through physical tests, such as genetic tests and blood tests. This does not mean testing is waste a time per se. These tests can determine the probability of a person developing autism; therefore, genetic testing should be taken as a precaution but not as a diagnosis. It is advised to use developmental screenings and diagnostic evaluations to diagnose the disorder. In the end, it can be concluded that there is absolutely no connection between vaccines or the ingredients and autism.

Resources:

Autism Spectrum Disorder. National Institute of Mental Health. https://www.nimh.nih.gov/health/topics/autism-spectrum-disorders-asd/index.shtml. Published March 2018. Accessed December 3, 2019.
Ciccarelli SK, White JN. Psychology: DSM 5. Boston: Pearson; 2014.
Autism Facts and Figures. https://www.autismspeaks.org/autism-facts-and-figures. Accessed November 14, 2019.
ASD – Genetics Home Reference – NIH. https://ghr.nlm.nih.gov/condition/autism-spectrum-disorder. Published November 26, 2019. Accessed November 14, 2019.
Autism. https://www.snpedia.com/index.php/Autism. Published October 25, 2017. Accessed November 14, 2019.
rs1858830. SNPedia. https://www.snpedia.com/index.php/Rs1858830. Published December 1, 2018. Accessed December 3, 2019.
Çöp EM, Yurtbaşi PM, Öner ÖM, Münir KM. Genetic testing in children with autism spectrum disorders. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560248/. Published 2015. Accessed November 14, 2019.
Screening and Diagnosis of Autism Spectrum Disorder. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/autism/screening.html. Published August 27, 2019. Accessed December 3, 2019.

Genomes Blog Post Assignment: Parkinson’s Disease, by Chase Ghannam

What is the Trait Being Tested?

Parkinson’s disease is here and affecting many people’s lives. It’s the runner-up neurodegenerative disorder making it the second most common disease next to Alzheimer’s disease. In North America alone, more than one million people are affected by it. Parkinson’s disease is distributed among “1% of 55-year-olds and more than 3% of those over age 75”. Altogether, there are more than four million people with PD worldwide⁽⁶⁾.

There are 18 chromosomal regions involved in Parkinson’s. However, “[not] all of the identified genes contain causative or disease-determining mutations”⁽⁴⁾. For example, alterations in GBA and UCHL1, “do not cause Parkinson disease but appear to modify the risk of developing the condition in some families”⁽⁵⁾. The names of the regions are numbered chronologically from PARK1 to PARK18. These names are really nick-names of the underlying regions. For example, PARK6 is really PINK1. Relating to the genes, “we know of 28 distinct chromosomal regions more or less convincingly related to PD. Only six of these specific regions contain genes with mutations that conclusively cause monogenic PD” or “a form of the disease for which a mutation in a single gene is sufficient to cause the phenotype”⁽⁴⁾. NIH states that “variations in other genes that have not been identified probably also contribute to Parkinson’s disease risk”⁽⁵⁾.

Specifically, “Familial cases of Parkinson’s disease can be caused by mutations in the LRRK2, PARK7, PINK1, PRKN, or SNCA gene, or by alterations in genes that have not been identified”. However, mutations of these genes can happen to people who have not inherited the disease and the causes of these sporadic mutations are unknown. The functions of all the proteins generally are producing dopamine in the “substantia nigra”⁽⁵⁾. Therefore, these proteins are a part of dopamine-producing neuron cells and are made in these specific neuron cells. Because these genes produce proteins that produce dopamine, it makes sense that an alteration, variation, or change in the structure of these proteins would lead to a lack of dopamine production in the brain, thus leading to the trait of Parkinson’s disease.

Why Get Tested?

Genetic testing for Parkinson’s disease has not been formalized under either the “Movement Disorder Society or any other PD alliance group”. Testing is encouraged for those with “juvenile-onset PD irrespective of family history; early-onset PD with atypical features and/or a positive family history of this disease; or late-onset PD with a strong family history of PD”. Genetic testing is strongly recommended for patients with early-onset PD. This is to help these people “understand their disease and to make informed life decisions”. It has been argued that testing would not change the clinical management of Parkinson’s. However, according to a journal by Christine Klein and Ana Westenberger(4) that is published on pubmed.gov, testing is becoming exceedingly more important in identifying mutations that will lead to more effective treatment routes(4). If the patient wants more effective treatments, testing is a viable option. It is important for understanding how family plays a role in PD. To start, only fifteen percent of those with PD have a family history with ten percent being reported from other sources(5). However, it is still important for those who have relatives with PD to understand how the disease spread through their family. The genes that spread through a family are the aforementioned LRRK2, PARK7, PINK1, PRKN, and SNCA genes. Furthermore, genes that affect Parkinson’s disease are (1) autosomal dominant, (2) autosomal recessive, and (3) autosomal dominant with reduced penetrance. “In clinical practice, however, pedigrees rarely follow that aforementioned well-defined Mendelian inheritance patterns, i.e., they are frequently complicated by reduced penetrance, variable expressivity, and phenocopy phenomena”(4). Because of this and the variability of inheritance patterns across the genes that lead to PD, it is important for people to be aware of family history in order to make an informed decision about testing for PD.

For those who decided to test for PD, I recommend a single-nucleotide polymorphisms test in order to determine whether you have certain variants that “are considered to be [associated] with the disease”⁽⁴⁾. The cost to test for all six known genes would cost $4,000 and would not be covered by Medicare(1). The type of test recommended given for the most common alleles for Parkin. Parkin mutations account for “77% of the familial cases with an age of onset [less than thirty years] (Lucking et al. 2000), and for 10%–20% of patients in general”. In addition to Parkin, LRRK2 and PINK1 are more common monogenic forms in which testing is recommended. However, testing is generally discouraged for those without “juvenile-onset PD irrespective of family history; early-onset PD with atypical features and/or a positive family history of this disease; or late-onset PD with a strong family history of PD” as mentioned previously(4). Moreover, there is good evidence supporting a connection between these variations and the trait in question in cases where “many family members affected by Parkinson’s disease”(7). The base risk of PD increases with age as PD typically develops in middle to late life. After identifying the variation, the person’s actual risk is not significantly increased unless the person has a family history of the disease.

Think Before You Spit:

There are scientific reasons that someone should not test for PD. There are no diagnostic criteria for SNPs for PD and therefore should avoid testing unless PD is prominent in the family. Risks of misdiagnosis are increased when these types of tests are taken because of a lack of conclusiveness. “Because there is no conclusive screening or test, patients with very early Parkinson’s disease may not meet the clinical diagnosis criteria. On the flip side, this lack of specificity means that you could be diagnosed with Parkinson’s disease, only to find out later that you have a different condition that mimics Parkinson’s”. Instead of genetic testing, the FDA has “approved an imaging scan called the DaTscan. This technique allows doctors to see detailed pictures of the brain’s dopamine system.” Furthermore, “The results of a DaTscan can’t show that you have Parkinson’s, but they can help your doctor confirm a diagnosis or rule out a Parkinson’s mimic”⁽³⁾.

Ethical Considerations:

There is always a concern for privacy when it comes to genetic testing. Our genes contain personal biological information, so it is recommended that one doesn’t get tested if (1) it’s not needed or (2) doesn’t live in a nation-state where genetic privacy rights are strongly protected. It is important that you weigh the pro and cons of getting testing especially if the testing could benefit treatment management.

Potential downsides of getting the test include (1) getting results that are not conclusive, (2) increased stress or anxiety from seeing results, and (3) getting misdiagnosed or misinformed. According to Roy Alcalay⁽¹⁾, an assistant professor of neurology at the Taub Institute, “positive findings may induce anxiety among first degree family members (who have a 50% chance of carrying the genetic risk as well), and a fear of discrimination (e.g. for employment or insurance purposes) based on the genetic findings”⁽¹⁾.

Asking the Right Questions Before Getting the Test:

Given the large variability of inheritance, the chances that a child, nephew, or aunt will test positive is largely incalculable. Generally, it would be advantageous for one to determine if the disease is either autosomal dominant or autosomal recessive. However, this method of calculating the probability is not effective because “pedigrees rarely follow that aforementioned well-defined Mendelian inheritance patterns”⁽⁴⁾.

Testing positive or negative is often misleading for PD. Oftentimes patients will test positive for PD and either not have or have another disease. For patients with a family history of PD, however, testing positive for PD is an indication that the patient should see a specialist and seek a guided treatment managed with consideration of the additional information from the genetic test. For patients who tested under these similar familial circumstances, but instead tested negatively, it is important that they continue to be aware of their familial risk factors and seek additional information as it becomes available.

If you get a test and would like to share the results with a doctor, it is important that you forward the information effectively. That is to inform your doctor why you got the test and what concerns you had leading up. Discuss with your doctor if there are any recommend steps or additional informative outlets about your test results.

For those who test positive, an additional DaTscan which has been approved by the FDA is recommended so that doctors can collect additional information on the dopaminergic neurons ⁽³⁾. While a positive test does not determine Parkinson’s disease conclusively, it is important that a patient tries to decrease other risk factors associated with the environment. “Exposure to certain toxins or environmental factors may increase the risk of later Parkinson’s disease, but the risk is relatively small”⁽⁷⁾. In other words, it is encouraged to avoid toxins, but the effect is small compared to other risk factors that are already at play.

Works Cited

(1) Alcalay, R. N. (2016, April 15). Parkinson’s: risk factors, genetic testing and therapies. Retrieved from http://blogs.biomedcentral.com/on-medicine/2016/04/18/parkinsons-risk-factors-genetic-testing-therapies/.
(2) EurekAlertAAAS. (2007, February 22). Low-cost Parkinson’s disease diagnostic test a world first. Retrieved from https://www.eurekalert.org/pub_releases/2007-02/ra-lpd022207.php.
(3) How Parkinson’s Disease Is Diagnosed. (n.d.). Retrieved from https://www.hopkinsmedicine.org/health/treatment-tests-and-therapies/how-parkinson-disease-is-diagnosed.
(4) Klein, C., & Westenberger, A. (2012, January). Genetics of Parkinson’s disease. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253033/.
(5) Parkinson disease – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/parkinson-disease#resources.
(6) Parkinson’s disease. (n.d.). Retrieved from https://www.snpedia.com/index.php/Parkinson’s_disease.
(7) Parkinson’s disease. (2018, June 30). Retrieved from https://www.mayoclinic.org/diseases-conditions/parkinsons-disease/symptoms-causes/syc-20376055.
(8) Parkinson’s Disease: Symptoms, Causes, and Treatment. (n.d.). Retrieved from https://www.webmd.com/parkinsons-disease/ss/slideshow-parkinsons-overview.

Prostate Cancer

What is prostate cancer?

The prostate is a gland found in male bodies that surrounds the urethra and is crucial in the development of semen. Prostate cancer is a disease predominantly affecting middle-aged and older men, where cells in the prostate gland multiply rapidly and form a tumor. The disease affects about 1 in 7 men [2].

Prostate cancer can develop at an early stage without pain, but can become fatal in later stages. Hence, early detection is essential for men.

The Genetics

Aside from environmental factors, the form and function of our entire body is encoded in our DNA. This is a molecule contained in all of our cells, and the code, split into genes, is formed by sequences of 4 letters: A, C, T, and G. Although there are billions of these letters throughout our DNA, even a small change—or mutation—can drastically damage the human body.

Research has shown that some of these miniscule mutations, particularly in any of 5 specific genes, are strongly linked to prostate cancer development. There is also another gene, called BRCA1, that helps code for proteins that suppress tumor growth. This gene corrects mistakes that are made when duplicating our DNA, so that (in theory) our genes stay the same over time. Put more simply, BRCA1 works to prevent mutations—which may cause tumor growth—from occurring.

Why get tested?

With this information alone, any man would consider getting a genetic test for prostate cancer, and for good reason. Even having 2 of the 5 aforementioned mutations could double your odds of developing the disease [1]! And inherited mutations (those which are often passed down from family members) in BRCA1 and similar genes monumentally increases cancer risk [2]. Knowing your odds is key to detecting prostate cancer early (when it is low-risk), treating it before the tumor grows out of control, and ultimately beating the disease.

If you’re looking for a genetic test, try out the SNP-chip, which can detect such single-letter mutations across different genes for around $300. But you may want to consider the alternatives first.

Alternatives

There are many ethical issues of genetic tests. Depending on how much of your DNA you want sequenced, the results can tell you about untreatable and uncurable diseases. Also, many companies will sell data and infringe on your privacy, so it is crucial to use a reputable service.

Additionally, the genetic test may not even be accurate. In fact, most cases of the cancer are somatic mutations, types that occur throughout a person’s lifetime and are hence not inherited. In this case, a genetic test can give a false sense of security. Even family history may only account for around 50% of cases of the disease [2].

As an alternative, there are more precise tests and screenings that can detect prostate cancer at an early stage. The two most common are rectal exams and PSA tests (a specific blood test), which have proven to be accurate and recommended by doctors [3].

Personal Considerations

Family history alone can have the same effect in increasing your odds as a single one of the above mutations. In these cases, it may be advantageous to get a genetic test at a young age, before the disease even starts to develop.

However, there is little danger in waiting until your late 30s or early 40s, when prostate cancer could be at an early stage of development to get tested. In this case, more-accurate rectal exams and PSA screenings are recommended, especially for those with family history.

It should be noted that there are potential side-effects to treating (or overtreating) prostate cancer, such as erectile dysfunction and infections [4]. In some cases, the disease can be nonfatal and unharmful. However, since prostate cancer can likely become fatal if not treated early, the choice of whether to take action against it is clear. It is never too early to talk to your doctor about your risks!

Sources

[1] Zheng SL, Gelmann EP, Kearon C, Kapur J, Center for Human Genomics. Cumulative Association of Five Genetic Variants with Prostate Cancer: NEJM. https://www.nejm.org/doi/full/10.1056/NEJMoa075819. Published February 28, 2008.

[2] Prostate cancer – Genetics Home Reference – NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/prostate-cancer. Accessed December 3, 2019.

[3] Prostate cancer prevention and early detection. Prostate cancer prevention and early detection | Seattle Cancer Care Alliance. https://www.seattlecca.org/diseases/prostate-cancer/early-detection-prevention. Accessed December 3, 2019.

[4] What Are The Side Effects Of Prostate Cancer Treatment? Prostate Cancer Foundation. https://www.pcf.org/about-prostate-cancer/prostate-cancer-side-effects/. Accessed December 3, 2019.