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.

Genetic Testing for Alcoholism

Alcoholism, which can also be called alcohol use disorder, affects an estimated 14.1 million adults in the United States (1). It has been linked to different SNPs in 6 main genes, all of which have to do with chemicals or hormones in the brain. OPRM1 and DRD2 are receptors for opioids and dopamine, respectively, while SLC6A3 and SLC6A4 are transporters of dopamine and serotonin. GABRA2 is a GABA receptor gene, and GABA is an inhibitory neurotransmitter. GHSR is the gene that is a receptor for growth hormones (2). The genes linked to alcoholism have to do with the chemical balance of the brain, because imbalance of those chemicals can lead to psychiatric disorders, such as alcoholism. While a person cannot be completely confident that they will develop alcoholism based on the presence of these genes, the genetic predisposition to alcoholism may be a reason to take preventative measures.

To test for alcoholism, I would recommend a SNP chip. If there were a chip with the SNPs that are implicated in the tendency towards alcoholism, it would only cost $300 to determine whether a person has a tendency towards alcoholism. A person may want to get this test if they are concerned about the development of alcoholism in their future. If they get the test, they can make the decision to be proactive about how much alcohol they consume. However, even if the tests are positive, it does not mean that they will definitely develop the disorder; it simply means they are at higher risk because the mutations in their genes make a person more likely to have alcoholism.

Additionally, the studies on some of the SNPs that are considered to be linked to alcoholism have had mixed results. This means that we are not completely sure of the association between the SNP and alcoholism, so there are significant limitations to the degree to which the genetic tests can predict a person’s likelihood of developing alcoholism. Other variants such as the environment that a person lives/grew up in, may impact the likelihood of developing alcoholism as well, and those cannot be predicted by a genetic test (4). If someone tests positive for most of the SNPs that are associated with alcoholism, then they are at a higher risk for developing the disease. However, this still is not a guarantee of them getting it. Any lifestyle changes that a person chooses to implement based on positive results of the genetic tests may be completely unnecessary, and the person would have disrupted their life out of fear of a disease that they may never develop (5).

There is still some debate as to whether alcoholism is genetic or hereditary. If someone in the family has already tested positive for the SNPs that are associated with alcoholism, other members of the family may be at higher risk and should consider getting tested if they are worried about developing the disease; however, this is not a guaranteed correlation. If a person does test positive for the associated SNPs, they should monitor their alcohol consumption carefully, and perhaps ask a trusted friend or family member to keep them accountable. If the person wants to take prevention very seriously, or if they have had issues with addiction in the past, they could give up the drug altogether. The person should share the results of the test with their doctor in order that their doctor can make decisions regarding treatment plans with addictive medications, because addition to alcohol is often associated with other addictions.

Overall, people who are very concerned about the possibility of developing alcoholism in their future could complete a genetic test that shows whether they have SNPs in their genes that are consistent with those linked to alcoholism. However, they must bear in mind that even if they undergo the genetic testing and test positively, they may not develop the disease, and vice versa. Genetic testing for alcoholism has its limits, and one cannot take the test and expect its results to be a guarantee of whether or not they will develop the disease.

“Alcohol Facts And Statistics.” National Institute On Alcohol Abuse And Alcoholism (NIAAA), https://www.niaaa.nih.gov/publications/brochures-and-fact-sheets/alcohol-facts-and-statistics. Accessed 4 Dec. 2019.

Alcoholism – SNPedia. https://www.snpedia.com/index.php/Alcoholism. Accessed 4 Dec. 2019.

“Effects Of Alcohol On The Body And The Brain – Alcohol Rehab Guide.” Alcohol Rehab

Guide, https://www.alcoholrehabguide.org/alcohol/effects/. Accessed 4 Dec. 2019.

“Is Alcoholism Hereditary Or Genetic?” American Addiction Centers, https://americanaddictioncenters.org/alcoholism-treatment/symptoms-and-signs/hereditary-or-genetic. Accessed 4 Dec. 2019.

“What Are The Risks And Limitations Of Genetic Testing?” Genetics Home Reference, https://ghr.nlm.nih.gov/primer/testing/riskslimitations. Accessed 4 Dec. 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.

Breast Cancer and How Genetic Testing Can Help

Breast cancer is a type of cancer that grows in the breast tissue. After skin cancer, it is the second most commonly diagnosed. 1 in 8 women will develop breast cancer over the course of their lifetime. Although breast cancer is commonly witnessed in female patients, male patients can also be diagnosed with breast cancer. Over time, breast cancer gained more awareness. Research funding has allowed for better treatment of breast cancer.

5 – 10 percent of breast cancers are inherited. The gene that increases the likelihood of breast cancer arising is a mutation in BRCA1 (Breast Cancer Gene 1). A mutation in BRCA2 is also linked to breast cancer. A gene test can be given to a patient to determine if they have one of these mutations in them.

BRCA1 & BRCA2: What are they?

BRCA1 and BRCA2 are known as tumor suppressor proteins. Their job is to repair damaged DNA and keep each cell’s genetic material stable. When mutations occur in one of these genes, problems arise. The genes do not function properly. Therefore, any damage that occurred to the DNA may not be repaired. This increases the likelihood that cancer transpires.

Inherited mutations in BRCA1 and BRCA2 are known to increase the risk of breast and ovarian cancer. They have also been associated with other types of cancer such as fallopian tube cancer, peritoneal cancer, prostate cancer, and pancreatic cancer and can also cause a rare form of Fanconi Anemia.

People who inherit the mutations in BRCA1 and BRCA2 are more likely to develop Breast and Ovarian cancer at a younger age than others.

Genetic Testing! Is it really that useful?

The gene test, in this case, is the BRCA gene test. This test is a blood test that uses a process called DNA analysis to identify any harmful changes in either of the BRCA’s. The test is offered after a questionnaire. The test is given if the patient has had a family history of breast cancer or ovarian cancer. It isn’t performed on people who don’t have a family history.

Pros of Gene Testing:

Can start preventive measures early
You might go to the doctor more frequently
You can consider surgical removal of breasts/ovaries before the cancer forms
If you do develop cancer, you and your doctor will have your genetic info to make any decisions
You and your family can make lifestyle changes if you test positive.

Cons of Gene Testing:

The results aren’t concrete. There can be an ambiguous result.

If you test positive:

You may face feelings of anxiety, sadness, or depression
You will have to make difficult decisions about preventive measures
Possible insurance discrimination

The plan after Genetic Testing

If you test negative:

You have a much lower risk of developing breast or ovarian cancer. All you have to do is do routine screening to make sure you don’t develop breast cancer.

If you test positive:

Immediately talk to a genetic counselor!

Genetic Counselors can help you plan what to do next. Every person is unique and their situation is different. You can start to take medicine such as tamoxifen, Evista or Aromasin which can help reduce the risk of breast cancer. You can go to more screenings to make sure you catch it the first time. You can go ahead with the surgical removal of your breasts. Your genetic counselor will recommend options to you.

References:

Breast cancer. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/breast-cancer/symptoms-causes/syc-20352470. Published November 22, 2019. Accessed December 3, 2019.

BRCA gene test for breast and ovarian cancer risk. Mayo Clinic. https://www.mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815. Published September 12, 2019. Accessed December 3, 2019.

BRCA Mutations: Cancer Risk and Genetic Testing Fact Sheet. National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#what-are-brca1-and-brca2. Accessed December 3, 2019.

Seeking Your Genetic Information: Pros and Cons. Breastcancer.org. https://www.breastcancer.org/symptoms/testing/genetic/pros_cons. Published October 12, 2016. Accessed December 3, 2019.

Athletic Ability

Nico Fontova

Hard work and talent are two central components to athletic performance. It is crucial for a world-class athlete to be laser-focused committed to improvement, but hard work alone will not determine success. Whether we like it or not, talent—or genetics—influences athletics, but how exactly does it do it?

There are over 150 genes found to be associated with athletic performance, but most do not have a large enough or statistically significant effect. Two genes in particular play a larger role in athletic performance and building certain types of athletes: ACTN3 (on chromosome 11) and ACE (chromosome 17). The ACTN3 gene creates alpha-actin-3, a protein which is part of the composition of fast twitch muscle fiber.¹ Fast twitch muscle fiber is one of two fibers in muscle. It can contract very quickly but also tires quickly and is key to our ability to sprint. Slow twitch fiber is the other; it contracts slowly but has much more endurance.¹ The mutation impacting ACTN3 is a SNP (a change of one base to another in the DNA sequence) which changes an amino acid into a stop codon, halting or entirely stopping alpha-actin production. This mutation is shorthanded with an X (for the premature stop) and the normal version is written as an R (for arginine, the original amino acid). Homozygous individuals are RR or XX, while heterozygotes are RX. XX individuals completely lack production of the protein, and therefore much less fast twitch muscle fiber. The XX allele is common in endurance athletes, while the RR and RX alleles are more common in short distance sprinters. The ACE gene codes for a protein which primarily regulates blood pressure, but also influences muscle function in an unclear way. The mutation in this case is an insertion called ACE-I, which is prominent in endurance athletes. ACE-D is the allele without the insertion, and DD and ID athletes are more likely to be sprinters.^1,3 These are the genes the influence athletic ability, and it is clear that being RR is more beneficial to sprinters, but is being an XX homozygote give you an advantage in endurance events? And if so, can people use genetic testing to determine their endurance ability?

Genetic testing for ACTN3 and ACE mutations could possibly be an indicator of your athleticism and could be used to identify future sprinting or endurance talent in young people. 23andMe tests for both genes, so a SNP Chip would be the recommended test, but using these tests as absolute evidence for endurance ability is risky.

A University of Bristol study found the ACTN3 R allele to be associated with sprint performance in Europeans but did not find the X allele to improve endurance ability.⁴
Another study found that only 20% of elite North American and European distance runners studied were XX homozygous, which is slightly higher than the control group at 17.5%.⁵
There clearly is some benefit with the genes, however, as a Swedish study found that only three out of 46 Spanish distance runners tested had a perfect genotypic profile for endurance (including ACE-I and ACTN3-X), but they were among the best in the world.⁶

XX homozygotes seem to have a slight advantage in endurance events (in that they are the best of the best in the Swedish study), but it is not a large or possibly notable advantage. Testing for these genes is clearly helpful in determining muscle performance, but they cannot predict someone’s proficiency in a sport by themselves, which could be unethical if taken too far.

This trait does cross many ethical lines, except for possibly using the test to select children and train children from a young age for certain disciplines. Both ACE and ACTN3 are not the sole predictors of athletic performance, however, so making a child a distance runner because he is II or XX would be wrong; it is important for someone to do what they like and not necessarily what they would be genetically proficient in. Many other factors play into athletic ability including a healthy training environment and eagerness to improve, which may not be present if someone is being forced to train because of genetics. An X or I positive test would affect a sprinter more because they would have less fast twitch muscle fiber in their bodies than others and be at an actual and proven disadvantage. One could use testing to see if they would be good short distance athletes, but most people have the R alleles that account for sprinting ability (around 20%-100% of each studied ethnic group in SNPedia), suggesting that the test is really only useful in current sprinters to see if they are at a genetic disadvantage by being RX.² This test can be used to measure athletic ability, but a VO₂ Max test (a test of the max volume of oxygen the body can use under stress) would be much more useful in determining current athletic ability, while genetic testing could determine potential ability.

If you test positive for the I or X alleles, maybe you should try your hand in endurance running, or if you already run, feel reassured in your choice, but don’t sweat it too much (unless you plan on being a world class 100 meter runner) because plenty of elite distance runners are RR or RX, and athletic ability is about more than just two genes.^5,6 In my opinion, parents should not test their children specifically for this gene or use the results to predict anything because there are many other factors contributing to athletic ability, and the evidence is not solid enough to prove that someone has talent for endurance event because of these genes. ACTN3 and ACE are indicators of how fast you can move, but they are not the whole story and certainly should not be treated as such.

References

Is Athletic Performance Determined by Genetics?. U.S. National Library of Medicine Web Site. https://ghr.nlm.nih.gov/primer/traits/athleticperformance. Updated November 12, 2019. Accessed November 14, 2019.

Rs1815739. SNPedia Web Site. https://www.snpedia.com/index.php/Rs1815739. Updated December 6, 2018. Accessed November 14, 2019.

Rs1799752. SNPedia Web Site. https://www.snpedia.com/index.php/Rs1799752. Updated January 6, 2018. Accessed November 14, 2019.

Alfred T, Ben-Shlomo Y, Cooper R, et al. ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies. NCBI, 2011; Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21542061?dopt=Abstract. Accessed November 14, 2019.

Döring FE, Onur S, Geisen U, et al. ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study. NCBI, 2010; Abstract. https://www.ncbi.nlm.nih.gov/pubmed/20845221?dopt=Abstract. Accessed November 14, 2019.

Ruiz JR, Gómez-Gallego F, Santiago C, et al. Is there an optimum endurance polygenic profile? NCBI, 2009; Abstract. https://www.ncbi.nlm.nih.gov/pubmed/19237423?dopt=Abstract. Accessed November 14, 2019.

Marfan Syndrome

Marfan syndrome is a genetic disease that affects the body’s connective tissue. People with the disease tend to be extremely tall and slender. This disease affects about 1 in every 5,000 people [1]. Marfan syndrome is typically caused by a mutation in the FBN1 gene which affects the way in which the protein fibrillin-1 is made. The production of the protein is enhanced and the surplus in fibrillin-1 is what harms the connective tissue, ultimately causing problems all over the body. Because Marfan syndrome causes complications throughout the body— such as in the heart, bones and joints, lungs, and nervous system— it makes sense that the FBN1 gene variation is what causes the disease [2].

[7]

Why and How to Test

Testing for Marfan syndrome is very important if you think there might be a chance that you have it. This is due to the fact that even if the symptoms are not always life threatening, they are detrimental to your way of life. If you find out that they are a result of Marfan syndrome, you can be more cognizant of the way you go about life so that you can live up to the normal life expectancy that the disease usually entails. For example, having Marfan syndrome would make it dangerous to play contact sports, both because of the brittleness of your bones and the higher risk you have for heart enlargement and heart failure as a result of that. The most effective and efficient form of genetic testing for Marfan syndrome is single gene DNA sequencing, as the disease is typically a product of a variation in the FBN1 gene. This is the case for up to 90% of the time. If the result of the test is negative, it might be helpful to do the same DNA sequencing for TGFBR1 and TGFBR2. If the aforementioned complications are present and testing is positive for a variation in any of these genes, then it is highly likely that someone has Marfan syndrome [3]. But if there are no symptoms present, then there is a chance that the person has another disease. There is a 50% chance that a parent with the disease will pass it on to their offspring, so it is important to have as many family members as possible test [1].

Scientific Risks of Testing

Having a genetic variation in the FBN1 gene usually causes some sort of condition that is paired with Marfan syndrome, such as the common variant rs12916536 leading to adolescent scoliosis [4]. However, testing for this gene is not always straightforward. For example, other variations of the gene can be linked to ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome [5]. Because of that, it is important to test multiple family members if there is a discovered variant in the FBN1 gene. Some of these gene changes could actually be polymorphisms, which are not likely to cause Marfan syndrome [5], so the risk of someone having a variation in the gene to also have Marfan syndrome is not a certainty, but not having that variation does mean that one does not have the disease.

Ethical Considerations

Most of the ethical questions regarding genetic testing used for Marfan syndrome is meant to question if genetic testing is even the best method to determine if one has Marfan syndrome. First of all, the cost might not be worth it because of the obvious physical characteristics of one with Marfan syndrome. As a child works through adolescence, they eventually would be able to notice their unusually long limbs and fingers and would likely have other abnormalities common for the disease. While that might not be indicative of anything other than just being tall and skinny, there are enough complications with the body caused by Marfan syndrome that would pile up and ultimately cause worry. But even still, they would have to test in some manner to be sure.

Another reason why a DNA sequencing might not be the best option is that there are other tests that one can have, such as an EKG, cardio ultrasound, cardiac MRI, or CT scan. These are the best ways to see abnormalities with the heart, blood vessels, spine, and skeletal system. These tests however are typically more expensive than the genetic test, which is usually around $2,000 [5]. However, being able to see the plethora of complications through these medical examinations seems to be more effective than the genetic test, as variations found in the test might not prove someone has Marfan syndrome. People who take the genetic test would end up having to pay north of $2,000 more for a different test to get complete accuracy.

There also come the behavioral and psychological effects that come with knowing you have Marfan syndrome. Initially, there are feelings of denial, anger, and depression, which come with many diseases. But accepting that you or someone close has the disease means living a different way of life. For example, it is important to stay out of active sports and all activities that put someone at risk for severe injury. Also, people affected must come to terms with the idea that they look different than others and that they would in some cases need special protection. Finding the balance of protecting yourself or your child while still being as involved in activity as possible will alleviate some of the frustration with the way of life [6].

Questions to Ask Before Getting the Test

If someone in the family has already tested positive, what are the chances that a child also tests positive? Children have a 50% chance of having the disease if one parent does. For more extended family, the chances vary as different parents come into play.
What should be the plan if someone tests positive? The first thing to consider if someone tests positive is whether or not they want to participate in further screenings. If the cost of that isn’t worth it, then someone who tests positive should at least act as though they do have the disease, especially if they possess some of the bodily complications.
What types of environmental factors should they consider changing if they test positive? Someone who tests positive should most certainly continue to stay active, but to a much lesser degree. Active sports and heavy lifting are highly dangerous to someone with Marfan syndrome, but it is absurd to completely remove physical activity from someone’s life.

Ultimately, a certain level of concern that you might have Marfan syndrome would make it worth it to get tested in some manner, whether it be genetic testing, medical screening, or both. Knowledge that you might have to change your lifestyle is scary, but it beats the likely alternative of dying from the complications of Marfan syndrome when you weren’t aware you had it.

References

“What Is Marfan Syndrome?” The Marfan Foundation, 3 Oct. 2018, www.marfan.org/about/marfan.
“Marfan Syndrome.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gtr/conditions/C0024796/.
“Marfan Syndrome – FBN1 Gene.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gtr/tests/502890/.
Sheng, Fei, et al. “New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis.” National Center for Biotechnology Information, U.S. National Library of Medicine, 15 Feb. 2019, www.ncbi.nlm.nih.gov/pubmed/30044367.
“Marfan Syndrome Diagnosis and Tests.” Cleveland Clinic, 3 May 2019, my.clevelandclinic.org/health/diseases/17209-marfan-syndrome/diagnosis-and-tests.
Bennett, Robin L., and Meinhard Robinow. “Marfan Syndrome.” University of Washington Orthopedics and Sports Medicine, orthop.washington.edu/patient-care/articles/arthritis/marfan-syndrome.html.
Zink, William P., “Marfan Syndrome.” August 2015, http://zinkmd.com/portfolio/amet-sollicitudin.

Hemochromatosis

By: Silvy Park

What is it?

Hemochromatosis is a disorder in which the body stores too much iron (excess iron is not effectively removed from the blood). This is dangerous because too much iron is toxic and can poison your organs, resulting in severe organ failure and even death. Common symptoms include joint pain, fatigue, general weakness, weight loss, and stomach pain. The prognosis for people who have hemochromatosis depends on how much organ damage they have upon diagnosis. Therefore, early diagnosis is important for treatment. Moreover, Hereditary Hemochromatosis, or HH, is more common in Caucasian men. In fact, some research highlights that men are five times more likely to have it than women.

The HFE Gene

The HFE gene is responsible for the genetic variation. It makes sense that the variations change the gene expression because the gene encodes for the hemochromatosis protein in humans and regulates iron absorption by regulating the interaction of the transferrin receptor with transferrin.

There are two main alleles in the HFE gene: rs1800562, also known as C282Y (risk genotype AA), which can cause a serious form of Hemochromatosis and rs1799945, also known as H63D (risk genotype GG), which can cause a mild form of Hemochromatosis [4].

Besides Type 1 HH, there are also Type 2 and Type 3 hemochromatosis, which are both also recessively inherited. Type 2 hemochromatosis results from mutations in the HJV or HAMP genes, while Type 3 hemochromatosis results from mutations in the TFR2 gene.

Pros and Cons: Why Should You Get Tested?

Pros:

Hemochromatosis is one of the most common hereditary disorders in the United States, with about 1 in every 8-12 Caucasians in the United States being a carrier (one copy of the HFE defect) and about 5 in every 1,000 to have two copies of the HFE defect [3].
Genetic testing can show whether you have one or two recessive HFE gene(s).
You can be prepared. Symptoms of hemochromatosis usually appear in men between the ages of 30 and 50. Symptoms often do not appear in women until after age 50 or after menopause, most likely because women lose iron from the blood loss of menstruation and childbirth.
Getting a test done can help a person avoid serious symptoms of the disorder. If left untreated, the disorder can lead to cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, heart disease, liver cancer, depression, and fatigue, all of which can be easily avoided if a person is treated beforehand [4].
HH is a candidate for genetic screening because the mutations associated with HH are present at birth, even though symptoms do not show up until adulthood.
If people who have hemochromatosis want offspring, genetic testing and counseling can determine the likelihood of the parents passing the HH genes on to their children.

Cons:

Having two copies of the Hereditary Hemochromatosis alleles will not necessarily cause the disorder.
Tests cannot predict whether you’ll develop signs and symptoms of hemochromatosis. Therefore, there is no strong evidence supporting a connection between these variations and the trait in questions [1].
The test is relatively expensive, considering that the odds of actually having Hereditary Hemochromatosis and its extreme symptoms are very unlikely.

Testing

A recommended test for hemochromatosis is an iron panel of blood tests. A complete iron panel typically includes the following: Ferritin, Transferrin Saturation %, Serum Iron, and TIBC/UIBC [5]. DNA genetic testing can be done by collecting calls from the inside of your mouth using a cotton swab or drawing blood from an arm vein [3]. Cost is usually around $100 to analyze the HFE gene. A comprehensive genetic test that analyzes five genes associated with HH is shown below. Cost varies but is usually less than $100.

Q & A:

If someone in the family has already tested positive, what are the chances that a child, nephew, aunt will test positive?

Most people who have HH inherit two hemochromatosis genes, one from each parent. Having a person in your family with HH does increase your chance of having HH as well, but not everyone who inherits the genes develops symptoms or complications of the disease.

What should be your plan if you test positive or negative?

HH can be easily treated by phlebotomy or regular donation of blood to reduce blood iron levels. Iron chelation therapy uses medicine to remove excess iron from your body. However, those with two copies of Hereditary Hemochromatosis who are diagnosed as not having Hemochromatosis should still familiarize themselves with the symptoms in case it develops later.

What type of screening is recommend if you do test positive?

If you test positive for the HFE gene mutation, it is recommended that you test for Hemochromatosis through an iron panel of blood tests.

What type of environmental factors should you consider changing in response to a positive test?

Keeping a low-iron diet can help a lot. For example, avoid taking iron pills and limit the intake of Vitamin C.

References

[1] Adams, P. C. (2002). Screening for Hemochromatosis. BC Medical Journal, 44. Retrieved from https://www.bcmj.org/articles/screening-hemochromatosis—should-we-do-last-test-first

[2] Chandrasekharan, S., Pitlick, E., Heaney, C., & Cook-Deegan, R. (2010). Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis. Genetics in Medicine, 12. doi: 10.1097/gim.0b013e3181d7acb0

[3] Hemochromatosis. (n.d.). Retrieved from https://www.nhlbi.nih.gov/health-topics/hemochromatosis.

[4] Hemochromatosis. (2018, May 21). Retrieved from https://www.snpedia.com/index.php/Hemochromatosis.

[5] Lewis, E. (2019, July 25). Hemochromatosis Lab Testing. Retrieved from https://hemochromatosishelp.com/hemochromatosis-testing/.

Childhood Asthma- Will O’Neil

The rs7216389 SNP is associated with susceptibility to Childhood Asthma. Childhood Asthma is when a child’s lungs and airways become easily inflamed when they are exposed to certain triggers, such as exposure to pollen or respiratory infections. Symptoms of asthma include “shortness of breath, chest tightness or pain, trouble sleeping caused by shortness of breath, coughing or wheezing, whistling or wheezing sound when exhaling (wheezing is a common sign of asthma in children), or coughing or wheezing attacks that are worsened by a respiratory virus, such as a cold or the flu.” (Mayo Clinic) The genotype CC gives the patient 0.69x lower risk of Childhood Asthma. The genotype CT gives the patient a normal risk for Childhood Asthma. The genotype TT gives the patient a 1.5x increased risk for Childhood Asthma. Asthma is the most chronic condition among children, affecting about 6.1 million kids under the age of 18. The protein IL-13 (interleukin-13) causes changes in the airways of asthma patients. It is a naturally occurring protein made by the IL13 gene, and it leads to inflammation, which in this case would be the lungs and airways. It does not alter any traits.

Any child should be tested for asthma, but children of parents who have asthma are more at risk and should be tested for rs7216389. If they have this, they will be more at risk to develop childhood asthma. To test this, I would recommend Single Gene DNA sequencing which should only cost around $10. The normal trait in question would be a CT genotype while a higher risk of the disease would be a TT genotype, and a lower than normal risk would be a CC genotype. There is evidence supporting the variations and the risk of Childhood Asthma two studies that both showed a correlation between the TT genotype and a higher risk of developing Childhood Asthma. Everyone has a risk of developing asthma based on environmental factors. About 1 in every 12 children develops asthma. However, having the TT genotype for the SNP rs7216389 gives children a larger risk for developing Asthma, which is shown through more kids with the TT genotype developing asthma than the other genotypes.

There is not much risk to having the single gene DNA sequencing test done. However, someone may not want to get the test done since it only finds whether you are more at risk to develop childhood asthma. Even if someone tests positive for the TT genotype, they may still never develop childhood asthma. Also, it is not 100% proven yet that the TT genotype with the rs7216389 SNP actually leads to a higher risk of Childhood Asthma.

There are no genetic privacy concerns that the consumer may want to consider. A potential downside of being tested is that even if you test negative, you can still develop Childhood Asthma. There are no studies that look at reactions to testing positive in this case.

If a family member tests positive for this, the child has a higher chance for testing positive. If a child tests positive for this, their plan should be to look out for symptoms of Asthma to be on top of it in case of an onset of severe Asthma. If someone tests positive for this, I would recommend telling your doctor that you tested positive for a gene that leads to a higher risk of developing Asthma. Then, the doctor may want to test for asthma in the patient. If someone does test positive for asthma, they should reduce the time that they spend doing the things that lead to their asthma symptoms, such as exercise, but not necessarily eliminate it from their daily lives. When doing these things, such as exercising, they need to watch for changes in breathing and for wheezing to prevent an asthma attack from happening before it actually happens.

Words Cited

Centers for Disease Control and Prevention. (2019, October 19). Asthma. Retrieved from https://www.cdc.gov/asthma/default.htm.

Mayo Clinic. (2018, June 4). Asthma. Retrieved from https://www.mayoclinic.org/diseases-conditions/asthma/symptoms-causes/syc-20369653.

Science Daily. (2011, March 22). Protein associated with allergic response causes airway changes in asthma patients. Retrieved from https://www.sciencedaily.com/releases/2011/03/110322151256.htm#:~:targetText=Summary%3A,according%20to%20a%20new%20study.

SNPedia. (2019, July 3). rs7216389. Retrieved from https://www.snpedia.com/index.php/Rs7216389.

Alcoholism Blog

What is alcoholism?

The definition of alcoholism is “an addiction to the consumption of alcoholic liquor or the mental illness and compulsive behavior resulting from alcohol dependency” (google). This “dependency” on alcohol increases health risks greatly in comparison to those who are not dependent on alcohol. The National Institute of Health (NIH) shares statistics saying 5.7% of people 18 and older have AUD (alcohol use disorder), while 1.8% of children 12-17 have AUD. NIH also shares the risks of alcohol disorders: liver failure, strokes, cardiomyopathy, and much more.

According to SNPedia, there are 6 main genes & 7 SNPs that impact likelihood of alcohol dependency. The six genes include: GHS-R1A, GABRA 2, SLC6A4, OPRM1, D2, and SLC6A3. Many of these genes are genes expressed in the brain, opioid receptor, dopamine receptor, dopamine transporter gene, neurotransmitter transporter. This is part of the reason alcoholism is a very dangerous disease and hard to overcome.

Testing for Alcoholism

There are many reasons people would want to get tested for increased alcoholism related traits. SNPs such as rs27048 and rs27072 are associated with very dangerous symptoms, such as seizures. For these two SNPs, I would recommend a SNP test, which would cost around $200. If one wants to see if they simply have increased chances for alcoholism, they would need a whole genome sequence testing, which costs hundreds of dollars. If one wants one specific test for the most common allele, they can also do that by single-gene testing. Personally, I would only recommend using whole genome sequencing if you have increased likelihood of severe symptoms or if alcoholism runs in your family. Ultimately, there is a strong correlation between alcoholism and genetics.

Downsides of Testing

Taking a whole genome sequencing test can inform one of many different variations within all of their genes. This can potentially lead them to variations in alleles they didn’t affect that increase risks for other diseases. Limitations for this test are that not all variations of the alleles increase the risk by a substantial amount; therefore, there is a possibility $1000+ may allow you to find something out that does not matter too much. There are a few disadvantages of this test. First, the role of most of the genes in the human genome is still unknown or incompletely understood. Therefore, a lot of the “information” found in a human genome sequence is unusable at present. Also, an individual’s genome may contain information that they do not want to know. For example, a patient could undergo genome sequencing in order to determine the most effective treatment plan for high cholesterol. In the process, researchers could potentially find an allele that relates to a terminal illness with no effective treatment.

Ethical Concerns

Considering how vast the information in a whole genome sequence test is, it is dangerous if this information is released, and since these tests are newer, security measures to protect this information is still new. Thus, increasing the likelihood of personal information being released. Also, people often find out about diseases they have that they did not expect. This can cause people to become shocked and/or depressed.

Facts about Alcoholism & Precautions to Take
1. FACT: It is less than 50% likely for a child to develop alcoholism if their parent had it.
1. FACT: Alcoholism is roughly half genetics and half hereditary.
1. PRECAUTION: Become more cautious if you have the SNP that increases likely hood of alcoholism. Be aware when drinking or take measures if already an alcoholic.
1. PRECUATION: If one is being cautious their self, they do not necessarily need to inform doctors, but rather family. However, if it is getting out of hand, they need to go to rehab and should immediately consult a doctor.
1. PRECAUTION: No screenings necessary unless excessive binge drinking has occurred… should check liver and other body parts to ensure there is not any organ failure.

Works Cited

“Alcohol Facts and Statistics.” National Institute on Alcohol Abuse and Alcoholism, U.S. Department of Health and Human Services, 20 Nov. 2019, www.niaaa.nih.gov/publications/brochures-and-fact-sheets/alcohol-facts-and-statistics.

“Alcoholism.” SNPedia, www.snpedia.com/index.php/Alcoholism.

Christensen, Kurt D, and Robert C Green. “How Could Disclosing Incidental Information from Whole-Genome Sequencing Affect Patient Behavior?” Personalized Medicine, U.S. National Library of Medicine, June 2013, www.ncbi.nlm.nih.gov/pmc/articles/PMC3852635/.

Crane, Marisa. “Is Alcoholism Hereditary or Genetic?” American Addiction Centers, americanaddictioncenters.org/alcoholism-treatment/symptoms-and-signs/hereditary-or-genetic.

“Whole Genome Sequencing.” Genetics Generation, knowgenetics.org/whole-genome-sequencing/.