By Linda Cullen

Genetic genealogy is a new forensic technique that has taken the crime-fighting world by storm. By sending your DNA to companies such as 23andMe or AncestryDNA, you can help catch violent criminals, mostly of unsolved murder and rape cases, and solve cases from years ago and now. While it may be controversial, many criminal cases have been solved and the perpetrator has been caught using this technique. For example, the Golden State Killer, who terrorized women throughout the state of California during the 1980s, was caught in 2018 using genetic genealogy (1).

Is It Okay for Law Enforcement to Have Access to Consumers’ DNA?

Many DNA databases have now allowed law enforcement access to their information through the new terms and conditions. For a while, there was controversy surrounding the idea of law enforcement having access to the DNA within these databases for violent crime investigation without the consumers explicitly being notified. A company called FamilyTreeDNA was exposed for allowing law enforcement access to the genetic profiles of over a million users (2). Many people thought this was an invasion of privacy, especially considering they did not give consent for their DNA profiles to be viewed and used by law enforcement. FamilyTreeDNA’s response to the criticism was that they felt a moral obligation to help solve violent cases given the information they had (3). Now, people seem to not have an issue with their DNA being available to law enforcement, considering that many criminal cases have been solved thanks to the use of genetic genealogy (2). Now, the concept of law enforcement having access to consumers’ DNA is less of a controversy, as long as there is transparency between law enforcement, the DNA database companies, and the customers.

How Does It Work?

DNA from crime scenes are inputted into the genetic database GEDmatch and cross-referenced with DNA of consumers within databases like 23andMe and AncestryDNA. If a match is found, it is most likely a distant relative of the perpetrator of the crime. Law enforcement can then trace back through the ancestry tree to find the person in the family who committed the crime and arrest them (1). This technique is especially helpful for older cases, when DNA testing couldn’t be used.  The technique requires testing of Y-DNA, which is a genetic test that follows the paternal lineage. This increases the popularity among forensic investigators because it’s the best way locate relatives through the male genetic line as well as determine the gender of the person’s DNA left at the crime scene (4).

Convicting Family

The biggest concern with this new forensic technique is that people will be unknowingly giving information to law enforcement that could get someone in their family convicted on a violent crime. While this seems to be a big issue, most of the relatives found through forensic genealogy are distant relatives, such as third or fourth cousins, and don’t even know the relative who committed the crime (2). Many people also feel that everyone should do time for violent crimes they have committed, such as murder or rape, even if it means helping to put a family member in prison. While it’s easy to look at the situation from an outside perspective and say that it is one’s moral responsibilty to give their DNA to solve crimes, even if it means getting a family member arrested, there is much more to consider in reality. The emotional distress that can come from making this decision is very difficult to put upon a family member. It is also very difficult for people to put aside family loyalties to get justice for someone they probably don’t know.

Should You Send in Your Spit?

Many campaigns have come out supporting the use of forensic genealogy and advocating to the public that they can help catch violent criminals by sending in their DNA. The most famous advertisement is Ed Smart’s ad for the genetic testing company FamilyTreeDNA, which advocated for allowing law enforcement access to DNA databases and asking viewers to send in their DNA (3). Ed Smart’s daughter is Elizabeth Smart, who was abducted when she was 14 years old. His message was that the families of victims of violent crimes need and deserve answers, and that your DNA could be the missing piece to finding those answers (3). I would recommend that you send in your spit, because the possibility of solving a violent crime with your DNA could mean giving closure to and getting justice for a victim or a victim’s family.

Sources:

1.  Corbyn, Z. (2019). How taking a home genetics test could help catch a murderer. https://www.theguardian.com/science/2018/dec/01/how-home-dna-tests-are-solving-cold-cases-golden-state-killer [Accessed 14 Nov. 2019].

2.  Zhang, S. (2019). A DNA Company Wants You to Help Catch Criminals. [online] https://www.theatlantic.com/science/archive/2019/03/a-dna-company-wants-your-dna-to-catch-criminals/586120/ [Accessed 14 Nov. 2019].

3. MIT Technology Review. (2019). Help us catch killers is now the new advertising angle for DNA companies. https://www.technologyreview.com/f/613232/help-us-catch-killers-is-now-the-new-advertising-angle-for-dna-companies/ [Accessed 14 Nov. 2019].

4. Corporation, P. (2019). Forensic Genealogy: What Your Second Cousin’s DNA May Say about You – ISHI News. https://www.ishinews.com/forensic-genealogy-what-your-second-cousins-dna-may-say-about-you/ [Accessed 14 Nov. 2019].

By: Chad Hudak

Marfan syndrome is a disease that usually causes vision problems and defects in large blood vessels from the heart.  This happens because Marfan syndrome is a disease that affects connective tissues in the body. Marfan syndrome can appear at any point in an individual’s life and can be fatal if it is not treated.  This disease affects roughly 1 in 5,000 people around the world and is caused by a mutation in the FBN1 gene.  The gene FBN1 creates the protein fibrillin-1 which helps to form connective tissue.  Fibrillin-1 creates structures called microfibrils that help connective tissue function properly.  Without these microfibrils, the body will overgrow, and tissues will become unstable (5).  A common symptom of Marfan syndrome is elongated limbs such as in this image:

Some signs of Marfan syndrome are elongated limbs and loose joints as well as an irregular heartbeat, shortness of breath, and general fatigue.  It would be smart to get a genetic test done if you showed any of these symptoms and believed that you may have Marfan syndrome.  That is because early treatment is crucial to living out a normal life with this disease.  Because there is only one gene associated with the development of Marfan syndrome, I would recommend getting a single-gene sequencing done.  I recommend this because there are over 1,300 mutations that could cause Marfan syndrome (2).  This test will cost roughly $1,400 to $2,000 (4).  The evidence between the variations found in this test and the trait are very solid.  Individuals who have one of the variations in their FBN1 gene will have Marfan syndrome, although there are people who show some symptoms of Marfan syndrome but do not actually have the disease.

An issue that an individual might have if they get the test done is that their entire life could change if they find out they have the disease.  If a person found out that they had the disease, they would then have to go through regular treatments and alter their lifestyle because of this disease.  If a person had Marfan syndrome, it would be ideal to limit exercise and avoid any hard contact or overly strenuous activities (4).  Along with lifestyle changes, the test and treatments are expensive.  While these may cause someone to not get tested, this trait is inherited in an autosomal dominant manner, meaning that if either of the two alleles is mutated, the individual will have the disease (5).  However, if your family has no history of the disease, then the test is not necessary unless symptoms occur.

Testing positive for Marfan syndrome would weigh heavily on a person’s conscious.  As a consumer, you would want to assure that the results of the test were either sealed or anonymous to the public.  Some downsides of taking the test are the cost and the emotional baggage that may come with the results.  I couldn’t find a study on how people reacted to the results of their genetic testing, but individuals with Marfan syndrome came out in an article done by The Mightyand stated some things that they wish others knew about those who have the disease.  One person stated that they live in “constant pain” and others motioned that the disease is not the same in every person and that there isn’t just one specific way that a person with the disease might look (1).

To make sure that testing is necessary, there are a few things that a person can check for on their own before making a decision.  If one of your parents has the disease, or you begin to show symptoms, it is a very good idea to get tested.  Before being tested, you should make a plan on what you will do following the results of the test.  It is smart to do this beforehand because there may be disappointing results.  If you test positive, you should begin treatment as soon as possible and talk to your doctor about lifestyle changes that may need to be made.  In the event that you test negative, nothing needs to change.  

If I tested positive, I would make sure to tell my doctor so that I would be getting the correct treatment for the disease.  I would tell my doctor something along the lines of this: “Hello Dr.______, As you know, members of my family have had Marfan syndrome and encouraged me to get tested.  I had a genetic test done and I tested positive for Marfan syndrome.  I will begin treatments as soon as possible and I just wanted to let you know in case there are other medical issues that may arise from this.  Thank You, Chad Hudak”.

The disease known as Marfan syndrome is very rare and affects very few people around the world.  Because of this, it is not necessary to be worried about the disease unless you have a family history or symptoms occur.  Marfan syndrome is not a life-threatening disease as long as precautions are taken to ensure good health.

Works Cited

1. Brentano, Elisabeth. “17 Things People With Marfan Syndrome Wish Others Understood.” The Mighty, 14 Nov. 2019, themighty.com/2015/11/living-with-marfan-syndrome-what-to-know/.
2. “FBN1 Gene – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 12 Nov. 2019, ghr.nlm.nih.gov/gene/FBN1.
3. Inna, Prashanth. “Marfan Syndrome (MFS) Clinical Presentation: Physical Examination, Clinical Diagnostic Criteria for Marfan Syndrome.” Marfan Syndrome (MFS) Clinical Presentation: Physical Examination, Clinical Diagnostic Criteria for Marfan Syndrome, Medscape, 10 Nov. 2019, emedicine.medscape.com/article/1258926-clinical.
4. “The Marfan Foundation.” The Marfan Foundation, www.marfan.org/.
5. “Marfan Syndrome – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 12 Nov. 2019, ghr.nlm.nih.gov/condition/marfan-syndrome#.

In Star Wars Episode II Attack of the Clones, Obi-Wan Kenobi steps off his shuttle onto the planet Kamino in order to track an intergalactic killer. Instead of finding him, he stumbles upon a secret clone army being developed for the Republic, one clone exactly the same as the one before him. They are all being based on one man, Jango Fett, who happens to be the killer that Obi-Wan is tracking this whole time. He was picked because he is of an optimal body type and a skilled shooter; he was a perfect template for an intergalactic army.

Don’t start sweating because you aren’t a Star Wars junkie and have no idea what I’m talking about, this really goes beyond the point here. During the year of Attack of the Clone’s release (2002), I am not sure that anyone actually thought that engineering an army of men who were equally lethal, loyal, and dangerous was possible. Just the mere idea of being able to look at a person’s genome was unrealistic enough; why even try to modify it? Potential advancements in the field of genetic modification ⁽¹⁾, such as CRISPR, have turned questions of possibility into questions of ethics.

Should parents be allowed to genetically engineer their offspring? If so, to what extent should this be allowed? If not, what are the foreseeable dangers of furthering research on genetic engineering?

What Are You Even Talking About?

To get us started, we must look at what is exactly meant by genetic engineering. Genetic engineering is defined as “a group of applied techniques of genetics and biotechnology used to cut up and join together genetic material and especially DNA from one or more species of organism and to introduce the result into an organism in order to change one or more of its characteristics.”⁽²⁾ Lengthy definition, I know. Let me break it down for you:

Genetic engineering appears to do one thing to achieve one purpose. It changes or influences the genetic makeup of an organism in order for that organism to exhibit one or multiple desired traits. In a sense, it is like me baking a cake. In order for me to make a regular cake exhibit chocolate taste, I would need to add some cocoa powder to make the cake show that specific characteristic.

The focus of this article is not to outline all the new and shiny technologies that can allow us to influence our genetics nor am I determining the potential of genetic engineering. Instead, I hope to point to the direction that modifying the genome can take us.

The Positives: Disease Therapy

The concept was born out of a need to create a cure for certain genetic diseases. CRISPR can be used to modify disease-causing variants in the genomes of embryos and to remove such variants for other generations as well.⁽³⁾ Doctors could edit immune cells to better fight cancer or edit blood cells to cure sickle cell anemia. There are many diseases that don’t currently have a physical cure, so genetic therapy could prove to be an effective alternative to remedy these diseases. It is for this reason that genetic engineering seems wildly attractive, for it supplies a possible solution to a problem that has large urgency. It appears that millions of lives can be saved through this medical practice. If the medical community can remove a child’s ability to have cystic fibrosis in the future or cure a current victim of cystic fibrosis, why shouldn’t they be able to?

The Other Side

Like with every advancement in society, whether it be technological or, in this case, medical, there are several compelling arguments against the usage of genetic engineering.

1. Health Risks

How would pregnancies be affected as a result of using altered embryos? The medical community overall has very little conclusive evidence over the safety of mothers and even modified offspring. ⁽⁴⁾ Genetic engineering could result in many miscarriages and paternal deaths. Sure, this problem could be resolved with further development, but performing human clinical trials presently could prove costly.

2. The Class System

A perhaps off-putting characteristic of genetic modification is its cost. Editing the genome of an individual is likely to be costly, especially if many specific demands are desired. The only families that could afford such adjustments would be upper-class individuals. ⁽¹⁾ Such families, in theory, could create model children with peak physical and intellectual traits. What results is an increasingly polarized class system. Society would have an upper-class dominated by offspring that genetically are better off for future success, and a middle-class and lower-class with unedited offspring that are simply disadvantaged compared to upper-class offspring. With very limited social class movement resulting, modifications could create classes of individuals defined by the quality of their genome. ⁽¹⁾

3. Discrimination

For a world that so publicly expresses their dislike for racism and discrimination, genetic engineering in a sense reinforces our biases. ⁽⁴⁾ Particularly in South Asian regions, having lighter skin is a sign of high class and poise. ⁽⁵⁾ If people in that area can choose traits that make their children have lighter skin, that beauty trend would be further enforced. This goes beyond just appealing traits; gender distribution is at stake as well. In 2015, it was reported that 21 countries had an abnormal distribution of males and females. ⁽⁶⁾ Many of these cultures just have a preference for sons rather than daughters. That being said, the combined technology of sonograms and genetic engineering could allow people to know the sex of their child as well as decide it as well. Should this technology become more generalized or more accessible, this could throw the balance of gender off balance: a harmful abundance of men compared to women or vice versa. Humanity would be disadvantaged as it pertains to reproduction, for there simply wouldn’t be enough women to create life with.

Physical vs. Psychological, Present vs. Future

What’s interesting about the arguments against genetic engineering is that most potential negative consequences occur far into the future. The benefits of the system can be seen almost instantly. There is tech, such as CRISPR, at the ready to spot genetic diseases. Saving the lives of many presently seems to be the most important matter since it is the most present issue. It is for that reason that it can perhaps be difficult to turn down the continuation of research in this field. On the contrary, since the technology currently isn’t widespread or advanced, it is easy to write off the dangers as outlandish slippery slopes. The overarching negative consequences could be considered too farfetched or unrealistic to be believable simply because they are futuristic.

We must recognize here that furthering the research has physical benefits but a lot more psychological and emotional detriments. In the future, the medical community could find possible cures to multiple currently incurable diseases. Genetic engineering, while the most straightforward route, is not the only solution to world disease. Furthermore, the mere possibility of intense class and trait discrimination looms large. Logically, genetic engineering has the potential to output the negative consequences mentioned above. While we can’t rule out the good that gene therapy could do, foresight can tell us that allowing genetic engineering to advance and apply itself past what’s necessary has extreme fallouts.

Look! Sources.

1. “What Are the Ethical Concerns of Genome Editing?” National Human Genome Research Institute, 3 Aug. 2017
2. “Genetic Engineering.” Merriam-Webster
3. “Pro and Con: Should Gene Editing Be Performed on Human Embryos?” National Geographic, 26 Nov. 2018.
4. “What Is Human Gene Editing?” Center for Genetics and Society
5. Pe, Roger. “Yes, Asia Is Obsessed with White Skin.” Inquirer Business, 1 Oct. 2016
6. Brink, Susan. “Selecting Boys Over Girls Is A Trend In More And More Countries.” NPR, 26 Aug. 2015

With the development of medicine and DNA technology, we have known for some time that diseases like breast cancer and ovarian cancer is tied to genetics. Similarly, we have recently found more evidence that prostate cancer in men is also linked to genetics which, on a lighter note, can lead us to even more early identification of this cancer in men around the world.

What?

According to SNPedia, a risk model for prostate cancers is based on two major predictors. The first is family history and inherited genetic mutations. The traits and code passed to you from your parents; or a genetic mutation, which is a permanent alteration in the DNA sequence for a gene. The second is 5 SNPs. SNPs are the most common form of genetic variation in individuals, each one represents a difference in a single DNA nucleotide.

Research has shown a connection of some type between individual types of prostate cancers and inherited mutations in BRCA1, BRCA2, ATM and CHEK2. BRCA 1 and 2 are both genes that produce tumor suppressor proteins. ATM is also a gene that makes proteins that when mutated increases the risk of cancers. The CHEK2 gene provides instructions for making a protein called checkpoint kinase 2. This protein acts as a tumor suppressor

The 5 SNPs chosen to represent five regions of chromosomes 17q12, 17q24.3 and 8q24 (three regions) are rs4430796, from ch 17q12, rs1859962, from ch 17q24.3, rs16901979, from ch 8q24 (region 2), rs6983267, from 8q24 (region 3), and rs1447295, from 8q24 (region 1).

These are the gene sequences and mutations tested to help address aggressive types of prostate cancer in men.

Who?

There are, according to the Urology Care Foundation, two groups of men that should actively consider genetic testing for prostate cancer.

The first group is men with localized prostate cancer who also have a family history of breast, colon, ovarian, pancreatic or prostate cancer. Localized means that the cancer has not spread outside the prostate. The reason why men with this type of cancer should consider being tested is that it can identify mutations in genes that could be harmful or be passed to offspring, rather than assess the risk of developing prostate cancer. 

The second group of men who may want to think about genetic screening are those with metastatic prostate cancer. Metastatic prostate cancer is a type of cancer that has spread beyond the prostate into other areas of the body. A recent study found that nearly 12 percent of men with metastatic prostate cancer will have a genetic mutation present. This discovery can help lead to various treatment plans for patients, which brings me to my next point.

Why?

Getting the news that you have a genetic mutation linked to prostate cancer benefits your whole family. They too may now consider testing to see if they also inherited the gene. Moreover, men with a family history of a genetic mutation should start getting screened for prostate cancer earlier than men who do not. BRCA1 and BRCA 2, two of the genes in question have an autosomal dominant pattern of inheritance while ATM and CHEK2 are passed in an autosomal recessive manner.

On the contrary, there is speculation about the drawbacks of using genetic testing haphazardly with men. While screening helps many patients and their families, there is concern that we could begin to overuse genetic testing prematurely in men for a type of cancer that more men die with than die of, according to AARP. 

The main reason to get genetic testing is if you have been diagnosed with a form of prostate cancer or it runs in your family so you can educate your family about the importance of early detection. The misconception that all men need to get screened for early detection can lead to overuse of screening as well as premature testing which is costly, time-consuming, and stigmatized. There is also,  however, the benefit screening provides to men who do not have prostate cancer of alerting them to mutations that put them at a higher risk, etc.

Another caution in genetic testing is the possibility of false-negative and false-positive test results. According to a Harvard Medical School study, the test failed to predict 95% of cancer in the sample of men, as well as 2.2% of men without cancer in the study were lead to worry about an increased risk of cancer. This worry is another caution of screening for men. 

There are also ethical questions as well as psychosocial risks which include guilt, anxiety, impaired self-esteem, social stigma, and discrimination when it comes to employment or insurance.

You should ask yourself all these questions if you are considering genetic testing for prostate cancer.

References: 

https://www.facingourrisk.org/understanding-brca-and-hboc/information/hereditary-cancer/decision_making_testing/basics/genetic-testing-prostate-cancer.php

https://www.urologyhealth.org/patient-magazine/magazine-archives/2018/fall-2018/genetic-testing-for-prostate-cancer-what-you-should-know

https://ghr.nlm.nih.gov/condition/prostate-cancer

Jack Caiaccio

Familial Hypertrophic Cardiomyopathy is a rare heart condition where the heart muscle thickens, blocking blood flow to the body. The muscle thickening typically occurs in an area of the heart known as the interventricular spectrum, which separates the two lower chambers of the heart. In some patients this muscle thickening can lead to abnormally sounding heart beats, which can obviously be detected. In other cases, however, there may be no visible or audible symptoms, just slowed blood flow, which can be very serious. Regardless, the thickening of the muscles in the heart obstructs the flow of blood into and out of the heart, which can be fatal. The prognosis for individuals affected with FHC is relatively benign- those affected may live for years without any symptoms or issues. A study by Thoraxcentre in The Netherlands has shown that, “HCM has a relatively benign prognosis (1% cardiac annual mortality) that is 2-4 times less than previously thought.” According to the US National Library of Medicine, Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States.” It is a gene that is autosomal dominant, so both parents must be at least carriers for the offspring to have a chance of having Familial Hypertrophic Cardiomyopathy. Autosomal means that the FHC gene is located on a non-sex chromosome, so both male and female offspring have an equal likelihood of receiving a copy. Dominant means exactly what is seems- it only takes one copy of the gene mutation to cause the disease. Therefore, when an offspring receives genes from its parents, it only takes one mutation in the MYH7 gene, or any other gene linked to FHC, to cause Familial Hypertrophic Cardiomyopathy. There are close to ten genes with variations that could leave the patient affected by FHC. The most prevalent mutation is in the MYH7 gene, which is associated with about 35% of FHC cases.

In order to identify Familial Hypertrophic Cardiomyopathy, it is imperative to get tested. Testing can be especially important in athletes and highly active people, because they are the ones that are physically exerting themselves the most, and their heart rates are, on average, higher. When an athlete is playing a sport, such as basketball, their heart rate is high, and their heart is having to work harder in order to get oxygen-rich blood to the body. If muscle is thickened, it is more difficult for the heart to distribute blood to the body. At higher heart rates, the heart can become overworked and blood may cease flowing and clot, which can be fatal. The most effective way to test for FHC is through an Echocardiogram, which is an imaging test where a doctor can see if the heart muscle is abnormally thick. Genetic Testing is not the most effective way to test, as results may not provide any definitive answer. One reason for this, according to the Mayo Clinic, is that, “Only about 50 percent of families with HCM have a currently detectable mutation, and some insurance companies may not cover genetic testing.” I would recommend some form of monitor testing, something that allows doctors to see if the heart muscles are enlarged or not. It can cost up to two thousand dollars for an echocardiogram, and no options that test the heart are cheap. Without insurance, you may still need to pay the entire cost by yourself. With insurance that does in fact cover an Echocardiogram, there will still be a co-pay of up to one thousand dollars. Even genetic testing would be expensive to test for all the gene mutations associated with FHC.

Before getting tested for Familial Hypertrophic Cardiomyopathy, it is important to know as much as possible about possible issues or limitations with the test. For example, there are about ten genes with variations, and some only account for a small increase in risk. Even with that mutation, it is still very possible that the patient will not have FHC. Also, there could be an undetected variation that the patient has that is not known to cause FHC, but it could because it just has not been associated to it yet.

There are many other possible repercussions to being tested for potential FHC. One is the possibility of your genetic information being sold to outside companies. Your genetic privacy is very important, and it could be a big problem if your information is sold. The company 23andMe is an online platform where you mail in a sample and get your results within a couple of weeks. According to the website, “Everyone deserves a secure, private place to explore and understand their genetics. At 23andMe, we put you in control of deciding what information you want to learn and what information you want to share.” There are also some potential downsides of being genetically tested for Familial Hypertrophic Cardiomyopathy, mainly because only about half of the people who have FHC in their genetic makeup have a detectable gene that will show they have it. In addition, it is very difficult to live knowing you have Familial Hypertrophic Cardiomyopathy, as you must exercise extreme caution whenever doing any physical activity. Treatment can help, and knowing about the disease could be lifesaving, especially for college athletes. College athletes, in particular, should know if they have FHC, because it could be lifesaving. It is important for all athletes to be tested, but I believe it should be required for collegiate athletes in the United States.

When being tested for Familial Hypertrophic Cardiomyopathy, it is important to be educated and ask the right questions to the experts. It depends on the gene in question, but since FHC is autosomal dominant, if a parent has tested positive, then there is a good chance a child will also test positive, about fifty percent. According to the National Library of Medicine, “This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.” It also states that, “In most cases, an affected person has one parent with the condition.” If they test positive, they should consult with the doctor and ask about possible treatments to help with the condition and about what they should do regarding physical activity. If they test negative, they should still be careful about physical activity or maybe even get a second test if possible, because of how much of a toss-up genetic testing is for FHC. I would tell my doctor anything I know, because they probably know more than I do and could help me out in my lifestyle changes. If they test positive, I would recommend screenings like the echocardiogram, because it can be far more definitive than the genetic testing can be, and the doctor can tell you the level of severity at the given time. A positive test should result in significant changes to the affected person’s life. They should be very careful when doing any physical activity, and they should limit their exertion.

In conclusion, Familial Hypertrophic Cardiomyopathy is a very serious heart condition that is genetic. People who have it in their genetic history should definitely get tested. I would recommend first getting an echocardiogram, to test the heart valves and muscles associated with FHC. If they are in fact swollen or enlarged, then I would recommend the genetic testing for FHC. Even though the results are inconclusive, you may be able to conclude more after echocardiogram results have come back. For example, if you know that heart muscles have thickened, you could pair that information with your genetic testing in order to develop the most conclusive results possible. It is very important to detect it, as it could be lifesaving to know that you have it, because treatments and lifestyle changes can have big effects. Before being tested for FHC, it is imperative to know as much as you can about the tests and ask the right questions.

Sources

Familial hypertrophic cardiomyopathy – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#inheritance.

Hypertrophic cardiomyopathy. (2018, April 14). Retrieved from https://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/diagnosis-treatment/drc-20350204.

23andMe. (n.d.). Privacy and Data Protection. Retrieved from https://www.23andme.com/privacy/?vip=true.

Prognosis of Hypertrophic Cardiomyopathy. Thoraxcentre, University Hospital. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/10163618

By Patrick Leonard