Is Dog Genetic Testing a Thing?

Definitely. Genetic testing.We’ve all heard of it at some point or another. We probably all know a person or two who has had it done. (23andMe was the first company to offer DNA testing directly to consumers that look for ancestry information. Now it has expanded to diseases, as well.) Perhaps you have done it yourself and now a thing or two more about your genetic blueprint. Maybe you now know your exact ancestry makeup or even what type of diseases you are at risk for?

So, people have been doing it, at least since 2007 when 23andMe became widely available. But what about dogs? What about our furry canines?Are they purebred dogs or mixed-breed dogs? Can we check for genetic diseases through a DNA test? If we love them as we love ourselves, wouldn’t we want the same for them as for ourselves, too? So, if we are curious about our genetic blueprint, why wouldn’t we feel the same about theirs?

To the dog owners among us, have you ever wondered about the genetic makeup of your furry best friend? Have you ever wondered about your dog’s chances of having a disease? Can you be 100% sure that you know your canine buddy inside and out? If the answer is yes to all of the above, you truly know your wet-nosedbud and you’re a champ! However, if you have stopped to think about any of the questions and are not sure, now you can be! You can, in fact, find out about your dog’s genetic makeup thanks to several companies that actually do that.

A company called Wisdom Panel offers two kits—a ‘Canine Breed Detection’ that offers identification for 250+ breeds, types and varieties and a ‘Canine Breed + Disease Detection’ that, in addition to the breeds, also offers screening for 150+ genetic health conditions. Their tagline, “Get to know your soul mutt even better”—all that is required is a pup’s cheek swab, an online kit activation,and prepaid shipping, and you’re on your way to unleashing yet another layer of your dog’s persona. Among the several things they offer, Wisdom Panel will provide you with a customized online report that has a genetic analysis of your dog’s ancestry, weight, physical traits and up to 150+ health conditions.

Embark is another such company

Embark is another such company that offers genetic testing services for dogs. However, they have a slightly different approach. According to their website, they are “the world leader in dog genetics” whose scientists have traveled the world to bring their clients a revolution in dog care. Embark is a research partner of Cornell University College of Veterinary medicine, and as such have a somewhat more academic or research approach—they use the information they obtain from clients for research purposes, too, to “expand the understanding and practical application of genetic knowledge in veterinary care and dog wellness generally.” They offer just one kit, the Embark Dog DNA Test, via which dog owners can find out their dog’s breed ID, genetic ancestry, over 160 diseases as well as traits such as coat color and altitude adaptation.

There are several other canine DNA companies out there that will screen your dog’s DNA and essentially offer insight into your dog’s past, present, and future.

In addition to dog owners finding out valuable information in regards to their dog’s genetic blueprint, this area has several other applications. In other words, it is not just for dog owners. Some companies offer forensic services for a growing discipline termed veterinary forensics. It is used in situations such as animal abuse, fraud, and criminal investigations and offers insight into law enforcement, Human Societies,and insurance companies, to name a few. And yet other companies offer services for dog breeders who wish to remain informed about the health risks of their specific breeds. Veterinarians also benefit from these services as they can offer their clients personalized pet medicine if they choose. This would enable them to have a medical angle to the DNA other than just being curious about their pet’s ancestry or disease background.

In addition, testing for dog DNA can also help future down owners—those who wish to either purchase a dog or adopt one. It would be helpful to not only know the breed breakdown but also what the potential disease risks are as well as how big the dogs will grow up to be and what their personality will be like; this can greatly facilitate adaptation of the owner to the dog and vice versa. Also, knowing the risks of disease upfront can save dog owners thousands of dollars down the line. Knowing that heart disease or cancer are potential risks before they happen is certainly an advantage. In other words, pet owners are prepared for the worst. DNA testing enables them to be ready, in addition to just being informed about the fact that their dog is a mutt/purebred/etc.

So, to get back to the question “Is dog genetic testing a thing?”the answer is a resounding yes. Once considered a new technology fueled by curiosity and only aimed to address the ‘just because,’ it has expanded to address several practical issues when it comes to pet genetics. But given all that, genetic information should still be taken with a grain of salt. It is not the end all be all—just because you have found out that your little furry friend has some cancer genes, it does not mean that he will have it for sure. That just means that there is a potential for it and now you know.

So, dog DNA testing is a thing, but that is not where the story ends. But you were probably able to predict that. Cat owners can benefit from these services as well. So, can horse owners!

Is Cystic Fibrosis Genetic Testing Accurate And Other FAQs

What is Cystic Fibrosis?

Cystic Fibrosis (CF) is a rare genetic disease that is life-threatening. It affects approximately 75,000 people in North America, Europe, and Australia.A total of 200,000 people are affected in the US with an approximate 1000 new cases per year. Americans of Caucasian origin are most likely to be diagnosed with cystic fibrosis. Currently, nearly three-quarters of all cystic fibrosis cases are diagnosed by the age of two. Despite the many biotechnological advancements that have been made, the life expectancy of the disease is still around 40. It is a breathing disorder that affects the lungs. People who have it have a difficult time breathing properly. The best way to describe it is to imagine you are deep below the surface of the ocean. All that water above you is weighing down on you, making it impossible to breathe. You are struggling for air and the only way to breathe in some air is through a narrow straw that connects you to the area above the surface of the water. So, you carefully breathe in air in such a way that the straw doesn’t collapse. Imagine this type of breathing all your life—that is CF. This sounds frightening.

What is Cystic Fibrosis Genetics?

Mutations in the CFTR gene cause relevant proteins to break down and malfunction. This affects the cells that produce mucus, sweat, and digestive juices.

In healthy people, these juices are thin and slippery. In individuals with CF, these liquids are the opposite: sticky and think. And, rather than acting as a lubricant which helps the lungs breathe smoothly, the secretions clog tubes, ducts, and passageways. This is a particularly sticky situation in the lungs and pancreas.

This then causes a buildup of thick mucus around the lungs which causes lung dehydration and essentially makes breathing very difficult and almost impossible. In other words, the lungs cannot clear themselves. Cystic fibrosis is considered to be an autosomal recessive disorder. A mouthful, I know. That essentially means that someone who has the disease has two copies of the mutation in the CFTR gene from a carrier, say one from dad and one from mom has the disease. Though connected to family historythis is only the case if someone has two copies of the gene. This is different from so-called carriers of the mutation who only have one copy and no symptoms. An estimated 10 million Americans are a CF carrier of the mutation. This is scary if you think about it. The chances of any male and female CF carrier among the 10 million meeting and having a child are quite high. There are nearly 2,000 mutations related to cystic fibrosis, some of which can be detected via genetic screening.

Is Cystic Fibrosis Genetic Testing Accurate?

Is Cystic Fibrosis Genetic Testing Accurate

Yes, and no. Out of the 2,000 cystic fibrosis mutations that have been found, during a genetic test less than 300 are genetically testable, so to say. This has been helpful. Thanks to genetic test advancements, the life expectancy of those with cystic fibrosis has increased by ten years—from 27 to 37. These advancements have also helped doctors figure out not only which patients have cystic fibrosis, but also which ones are at risk and which drugs or medications are best suited for them. This is especially helpful for parents who wish to have a baby; genetic testing may help them figure out what the chances are their baby will have the disease. These have all greatly advanced the area of genetic testing for cystic fibrosis. However, screening of only 300 genes is not enough. This leaves the other 1,700 or so in the dark in terms of screening, but they could be important in predicting disease status. So, yes, the tests that are designed to test the less than 300 genes for cystic fibrosis are accurate, but are they enough to predict all the cases of cystic fibrosis given that there are 2,000 mutations for it? Probably not. That is why genetic screening is not considered a gold standard when it comes to diagnosing cystic fibrosis.

How Is Cystic Fibrosis Diagnosed?

Cystic fibrosis is currently diagnosed through a chloride sweat test. The science world refers to it as pilocarpine iontophoresis, but let’s just call it the sweat test for our purposes. During the sweat test, the patient takes a chemical activator (pilocarpine), which causes them to secrete chloride on their skin. The sweat test, as its name implies, measures the concentration of chloride, or essentially salt, in the patient’s sweat. This technique has been around for decades. Even though it is old, its accuracy rate is around 98%. And while it is accurate, it doesn’t provide any information other than a positive or negative result. In other words, patients and doctors can only get a yes or no answer. It offers no information about the severity of symptoms or which therapies might be most effective or suitable. This is a big deal since the severity of the disease varies greatly among patients.

What Is the Future of Cystic Fibrosis?

Despite the fact that cystic fibrosis diagnostics are not optimal, we have to look at things from the bright side and not sweat the small stuff. Great advancements have been made, indeed. This includes advances in both technology as well as treatment. Thanks to that, children with the disease are living into adulthood. In fact, over 50% of the patients with the disease are older than 18. Their median predicted survival age (meaning the most frequent survival age among the cystic fibrosis group) is constantly on the rise and is now close to 40. So, overall, perhaps rather than asking whether genetic testing for cystic fibrosis is accurate, we should be asking if it is better than before, which it definitely is. Given that the numbers have improved rapidly over the past few years, it is not unrealistic to expect more and more rapid advancements in the coming years.

Is Embryo Genetic Testing the Right Choice for You?

There are many questions in life that others could answer for you: Should you buy a house? Should you buy that Porsche that you have always wanted? Will exercise cause you to lose weight? Should you go to the movies tonight instead of staying at home and watching TV?

However, there are just as many questions—if not more—that only you can answer for yourself. You know yourself best and only you know what is right for you. Answering a difficult question is not so much about knowing the answer but it is more about what you will do with it. What will the next steps be? Some decisions are inherently risky and part of the reason why only you can answer some questions in life is because those are largely only your risks to take.

Everyone wants to have a healthy baby. Like with genetic screening, prenatal testing, or even IVF treatment, however, one such question is whether you should or should not do embryo genetic testing for genetic disease or chromosomal abnormalities (genetic abnormalities) in order to reduce the chances of birth defects. Presumably, you and your partner have either decided to conceive or have done so already and now you would like to know whether to look into the future of your child’s life either before creating it or before it is born.

Again, what you deem to be the right choice is largely up to you. While some parents deem it their responsibility to know, whether they decide to have a baby that they know is at risk of a genetic disorder or not. And yet others opt out on moral grounds, deciding that they will have the baby no matter what. Whichever option you decide to choose, it doesn’t hurt to know what the options are and what is available.

Embryo genetic testing is typically referred to as prenatal genetic testing, and it essentially provides future parents information about the chances of their fetus developing certain genetic disorders that are caused by changes in genes or chromosomes. For example, aneuploidy is a condition in which there are either not enough (missing) or too many chromosomes. Trisomy and monosomy, on the other hand, refer to disease situations where there is an extra chromosome or a missing one, respectively. Changes in genes that cause inherited disorders such as sickle cell disease, cystic fibrosis, Tay-Sachs disease to name a few, are called mutations. In these situations, each parent has to be a carrier, or have the mutation, in order for their child to be affected.

So, before going into the actual test options, it is important to differentiate between the two contexts under which embryonic genetic testing is performed. Prior to that, a type of screening called carrier screening can be performed on parents (or those thinking of becoming parents) in order to find out whether or not they are potential carriers of a genetic disorder that they may pass on to their baby.

If a baby is conceived via in vitro fertilization

If a baby is conceived via in vitro fertilization (embryos are created via a combination of eggs and sperm in the lab), the testing is called preimplantation genetic testing (PGT), of which there are two types. Preimplantation genetic screening (PGS) is typically for women who do not have a known pre-existing increased risk of genetically abnormal embryos. It tests to make sure that the number of chromosomes is normal and it is typically recommended either for older parents-to-be, for couples who have already undergone several rounds of fertility treatments or who have experienced multiple miscarriages. Preimplantation genetic diagnosis (PGD), on the other hand, is used by couples who know that they carry risks of passing on genetic disorders as means to find out the chances of passing it on to their child. PGD investigates whether embryos carry genes that may cause specific diseases such as cystic fibrosis, muscular dystrophy, sickle cell anemia, or hemophilia. Couples who decide to conduct PGD don’t typically have fertility issues.

For couples who have conceived via IVF, PGT may not have all the answers. Still, pregnant women should undergo prenatal testing to make sure their embryo is developing as anticipated. Pregnant women have access to two main types of prenatal genetic tests, prenatal screening tests,and diagnostic tests. Prenatal screening tests inform parents about that chances of their fetus having an aneuploidy and a few other disorders. Prenatal diagnostic tests, on the other hand, tell the parents whether or not their fetus actually has a certain disorder. These tests are done on fetus cells or on the placenta. A pregnant woman’s blood or ultrasound exams can look for aneuploidy while brain defects as well as some defects of the stomach, heart, or facial features.

Pregnant women are screened throughout the entire pregnancy. First-trimester screening (between weeks 10 and 13) includes blood tests and ultrasound screens for risks of Down Syndrome or any other type of aneuploidy. It also checks for the heart, stomach wall, and skeletal abnormalities.

Second-trimester screening tests for Down Syndrome, trisomy 18 as well as brain defects (between weeks 15 and 22). Additional tests (between weeks 18 and 20) tests for major physical abnormalities in the brain, spine, face, stomach, heart,and limbs.

Combined first- and second-trimester screening is also available and, as the name states, it is a combination of the first- and second-trimester test results. Taken in combination, they are a lot more powerful in terms of their predictions. However, they are only available in the second trimester.

In terms of accuracy, as with any other test, there is a possibility that the tests may imply the fetus has a disease when,in fact, it does not (false-positive) or the opposite, that it does not have a disease when in fact it does (false-negative). Rates for each vary and doctors are typically informed in regards to the odds of each.

Given the options, whether or not you would like to go through embryo genetic testing is a personal choice and entirely up to you and your partner. Each situation is individual. And, as with everything in life, there are pros and cons to this, as well. If couples decide to go down this route, it is important to discuss the options with a professional health care worker who can help guide them in the best direction for them.

How Does Genetic Testing for Alzheimer’s Really Work?

A lot of us have heard of genetic testing and might have some idea of what it is. For those of you who are not quite sure, genetic testing is basically the process of looking at a person’s genome for signs, or ‘genetic markers’ as the science world calls it, of a type of disease. Let’s use an example. Say Susan’s mother was diagnosed with breast cancer (we’ll keep it light, though, she is fine now, for the purposes of our story). Cancer, being a heritable disease, or genetic risk, Susan would like to know her chances of developing breast cancer at some point in the future. Either her blood or her saliva would be sent to a genetic testing lab from which researchers would extract Susan’s DNA(her genetic material). Once they have her DNA, they would screen it for a specific genetic mutation related to breast cancer. If Susan has that marker, her chances of developing breast cancer are said to be much higher than not developing the disease. In other words, Susan has a much higher probability of developing breast cancer but that does not mean that she will for sure.

Now, to stay true to the title of the post, let’s juxtapose that onto Alzheimer’s disease, or simply AD.

Again, a lot of people have heard of AD, some know more about it than others. Simply put, AD is brain disease that slowly and progressively destroys brain cells. And since the majority of those brain cells that are affected are located in the area of the brain that controls memory, language and thinking skills, AD’s most noticeable symptoms are memory loss and difficulty speaking. It may eventually lead to death. You may have also heard that Alzheimer’s disease is a form of senile dementia. Dementia is simply an umbrella term for diseases that affect the way people think and interact with each other. AD is the largest category of senile dementia, accounting for up to 70% of cases.

The elderly are at a much higher risk of developing it than younger people, even though it is said that after the age of 85 all bets are off—we are pretty much all at the same risk.

While we don’t yet really know what causes AD

While we don’t yet really know what causes AD, there are some sure risk factors that may make someone more likely to have it. In addition to lifestyle and age, some of these risk factors are a genetic risk or a genetic mutation. This is where yet another term comes into play, namely ‘predictive genetic testing,’ and this is where our AD story is connected to the example with Susan’s mom above. Predictive genetic testing is basically genetic testing of someone who has a relative (by birth) who is diagnosed with dementia. This type of testing is, of course, only available for inherited AD.

More specifically, mutations in several different AD genes have been found that are connected to an increased risk of getting AD. In particular, there are genes called APOE that stands for Apolipoprotein E. What this basically means is that the APOE gene is responsible for the expression of the Apolipoprotein E, a protein that is involved in metabolism. There are several versions of the APOE gene and what researchers have found is that the version of APOE that is most commonly found in AD individuals is APOE-e4. APOE-04 was discovered in 1993 and it is the first gene variation to be connected with an increased risk of AD. It is still considered to have the greatest impact today. The other two versions are APOE-e2 and APOE-e3.

However, that’s not where the story ends. There are three other genetic variants (and we won’t get into them too much as they are so very rare) that are associated with early-onset AD, meaning individuals younger than 40 or 50 years of age getting the disease. These are APP, PS1, and PS2.

It should be pointed out, however, that if someone has the mutations or variations or genetic markers—whichever term you prefer—they are not going to get AD for sure. It simply means that they are at a higher risk.

So, what does all this mean?

Doctors are not very likely to order a genetic test for a patient who does not show any symptoms of cognitive decline, even if they know that AD runs in their family.

However, if someone really wants to know their genetic profile, a company called 23andMe has started offering genetic tests for people. While at first, this seems appealing—why wouldn’t you want to know what your mental future holds—disclosing someone’s genetic information comes at a risk. Once people receive their DNA results—in other words, once their DNA palms are read, so to speak—they are pretty much on their own unless they decide to receive genetic counseling by someone who can explain to them what all that means. So, while you may think it is exciting to know which disease possibly awaits you in the future, think again if you are the kind of person who would take it in stride or are you someone who will stress out about it. Finding out the future of your health is not always a relief. Some people do find it informative—they adjust their lifestyles and mindsets accordingly. On the other hand, others are not as strong.

For AD, it is especially tricky—not all lifestyle changes are guaranteed to help.

All of this also begs the question of just how relevant genetic testing is for a disease that, once symptomatic, only progresses to become worse. There is currently no medication for it on the market so genetic testing only serves as a confirmation rather than a diagnosis based on which next steps can be taken.

Overall, however, as with many other diseases, AD falls into a category that can certainly be genetically tested. The question is how relevant are the findings in the long run and big picture?

Genetic Testing for Autism: 6 Surprising Things You Should Know

Autism spectrum disorder (ASD), or simply autism, is a developmental disorder. It affects both verbal as well as nonverbal communication, behavior, and social skills. Children with autism look at the world and what is happening around them much differently than other kids. Some behaviors that are associated with autism include having difficulty dealing with change as well as displaying restricted, stereotyped, or repetitive interests. Because autism is different for every child, and there is a wide range of symptoms, the disease is generally called ASD.

While we don’t exactly know the cause of autism spectrum disorder, we do know that it is likely to be a combination of things. For one, kids with ASD are much more likely to have a family member who suffers from ASD than those who don’t. This points to genetics as an important factor in ASD. Also, some children may have a medical condition that is associated with ASD.

According to international sources, about 1 in 100 children has ASD and boys are 4 times more likely than girls to have it. Even though it may seem like more children suffer from ASD now than in the past, this may be because of better awareness and recognition of ASD than before. This could also mean that there have been changes in how ASD is diagnosed, which means we are now much more likely to recognize its symptoms than before and are much more sensitive. Therefore, more diagnoses are being made than before. ASD occurs both in children as well as in adults. The condition is typically diagnosed in childhood, even though some individuals are diagnosed during their teenage years or even in adulthood. One way to test for ASD is through genetic testing.

There are many genetic tests available for autistic children. These tests test the kid’s DNA in order to find possible changes in the genes that may be behind ASD symptoms. The tests are based on so-called clinical microarrays. They compare an individual’s genes to a reference genome (healthy DNA). This helps detect either duplications (simply put, too much DNA) or deletions (not enough DNA) that may be connected to autism.

Genetic testing makes it possible for parents to find out what is behind their child’s autism and developmental delay. This makes it possible to get the most appropriate and most quality medical care. In addition, parents can find out a few other things. For one, genetic testing lets them know about the likelihood that another family member may have autism. They can also find out about other potential diseasessuch as heart disease or seizures that happen along with their child’s delay. Last, but not least, genetic testing informs parents about the progress of autism. In other words, they are informed about how, when, and how quickly their child’s autism will develop and what to expect in the future.

There are six surprising things about genetic testing for autism you should know.

First Line of Genetic Testing

Chromosomal microarray analysis (CMA) is considered the first line of autism genetic testing. It can pick out small regions of abnormalities in chromosomes that are made up of DNA. These small regions of DNA are called copy number variants (CNVs). A CNV is a change to the expected amount of DNA in a chromosome. Healthy individuals typically have two copies of chromosomes—each inherited from one biological parent. When a region of a chromosome either has fewer or more than two copies, it is referred to as a CNV. An extra copy is a duplication while a missing copy is a deletion. These are small chromosomal regions that the CMA test can pick out.

Inherited Disease? Maybe not Entirely

People with autism carry more de novo CNVs, meaning they are not inherited from parents. De novo is a Latin term that literally means ‘from new.’ In terms of autism, de novo means that the genetic mutation has no definable background—it just happened spontaneously. This case of autism accounts for a total of 5–10% of autistic individuals is a lot more than expected, considering that it is largely thought of as an inherited disease.

Figure 1. What causes autismFigure 1. What causes autism?

70% accuracy?

Physicians call genetic test results as a likeliness that a child may have ASD. What that means is that, if your child does not have symptoms and the test is positive, it means that there is still a high chance the child may not develop ASD. In other words, all genetic tests are said to be 60–70% accurate so far. However, there may be an improvement on the way (see below).

90% accuracy?

Scientists have recently developed a blood test that looks for abnormal proteins in those with autism. Their research was based on blood from both autistic and healthy kids. They report the test to be able to predict whether a kid does or does not have autism with 87–90% accuracy. So, there is hope!

It’s all about Timing

Finding out about whether or not your child’s genes carry a gene for autism can make a big difference in a child’s life. For example, if parents find out early on about a genetic mutation in any of the several genes that are associated with autism, interventions can be started before it’s too late. Interventions include any of the exercises that immediately begin improving possible developmental delays, such as physical therapy and feeding therapy.

So Many Genes

A whopping total of 400 genes and several CNVs together can result in a diagnosis of high to moderate risk for autism. However, each of these genetic mutations on its own does not make up more than 1% of the total cases of ASD.

Figure 2. A very complicated figure to illustrate that there are so many genes involved in autism.Figure 2. A very complicated figure to illustrate that there are so many genes involved in autism.

What Can a Certified Genetic Counselor Do for You?

Given the many online, from-home options we have today to find out everything we need to know about our genetic blueprint from our ancestry to our genetic predispositions to certain diseases, it seems like we don’t really need anyone else but ourselves—especially paying someone a lot of our hard-earned cash just because they have a master’s degree or Ph.D. in genetic testing. All the information is available to us and it is often just a few clicks and a cheek swab away. But how sure are we that having the genetic information can help us not just make proper sense of them but also help us make important decisions about our healthcare or understand potential genetic disorders or birth defects? How sure are we that the results we get are positive or negative or a sure thing? Genetic tests can certainly reveal a bunch of information—see it as pieces of a genetic puzzle, but it is not generally recommended to make healthcare decisions based on them without first speaking to a professional about it.

I know, you’re probably thinking that you don’t need yet another reason to go see a doctor regarding potential genetic conditions such as hereditary cancer like breast cancer. Or perhaps you don’t want to wait yet another few weeks or months until someone sheds some more light on these results. Or perhaps you’re simply content with the information you have and you don’t really need anything else. But a doctor is not the only certified or skilled health care worker who can help you make sense of your genetic test results.

Meet the term: genetic counselor. They work in either private practices or hospitals and/or clinics. These individuals are healthcare professionals who have gone to school and are training in medical genetics and counseling. They are great resources as they inform and advise both individuals and families in terms of their chances of getting a certain heritable disease. They can also discuss available treatment options. Genetic counselors will both interpret and analyze your genetic test result and can work with you if you happen to find out you are at risk for developing specific disorders. They can advise on things such as risk probability, lifestyle changes as well as preventative treatment options. What’s best, genetic counselors come in different forms—depending on the area of their expertise, you can choose to work with someone who specializes in the very disease that you happen to be at risk. Physicians, as well as other healthcare practitioners, will often refer their patients who have a family history of a specific disease to see a genetic counselor.

There is actually an institution, the Genetic Counseling Definition Task Force of the National Society of Genetic Counselors that has defined the term ‘genetic counseling.’ According to them: “Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources, and research. Counseling to promote informed choices and adaptation to the risk or condition.”

As you can see, genetic counselors

As you can see, genetic counselors are a great resource, and not just to help you make sense of your genetic test results, but also in terms of the greater picture of your genetic background. You don’t have to have taken a genetic test to seek a genetic counselor. If you know your family history and you know that there are inheritable diseases and would like to know your chances of getting them, a genetic counselor can help you find out. See it as a kind of genetic social work. Think of them as an encyclopedia-type resource—they have most of the answers within the genetics realm.

Reasons for seeking out a genetic counselor or thinking about further genetic testing include the following:

  • Chromosome abnormality or genetic condition as part of family history.
  • Single gene disorder molecular testing.
  • Mother is older than 35.
  • Father is older than 40.
  • Abnormal prenatal results (serum or ultrasound).
  • Abnormal neural findings via ultrasound.
  • Family history of cancer.

For example, a pregnant woman may be referred to consult a genetic counselor if she discovered a risk through prenatal testing. Also, individuals may seek the help of a genetic counselor following the birth of a child with a genetic condition. In situations like these, genetic counselors are there to explain the disease, treatment,and management as well as possible risks of subsequent children having the same disease.

So, a genetic counselor and a certified genetic counselor are essentially the same thing. It has become a requirement for everyone in the profession to become certified, and as such a certified genetic counselor is internationally recognized.

To get back to the original question of what a certified genetic counselor can do for you—it largely depends on who you are and what your needs are. Whether you are a couple who is looking to have a baby, or you are a couple who has a baby with a genetic disorder and would like to know the chances of that being the case with the second baby, genetic counselors can help you address that. If you have just received the results of your buccal swab and you are sitting on your ancestral as well as health information that was obtained from your DNA, genetic counselors can help you make sense of it all.

Beyond that, being in the know helps you decide on the next steps. It can help you make decisions that may improve your quality of life or that may even save your life. However, that largely depends on what type of advice you seek and where. The biggest issue with receiving genetic test results is that people tend to be overconfident about knowing what they mean. As such, they may oversee details that may be important. A certified genetic counselor can help make sense of it all so that these results are more than just satisfying your curiosity.

Should I Get Ovarian Cancer Genetic Testing?

Why You Should Get Ovarian Cancer Genetic Testing

Cancer is sneaky. It is unpredictable. Ruthless. Merciless. In a way ridiculous. Cancer isn’t just one disease. It’s an umbrella term for several different kinds of diseases. Depending on where in the body it attacks such as breast and ovarian cancer, it has a different progression, a different speed,and a different fate. Each cancer is unique. Some are treatable in some people, while others are not treatable at all in other people. Each cancer has its own story. That sounds entirely horrifying, doesn’t it?

Ovarian cancer is, as the name states, cancer of the ovaries. The female reproductive system has two of them, one being on each side of the uterus. They are about the size of an almond, and their task is to produce eggs (ova—hence ovaries, hint, hint) as well as the hormones estrogen and progesterone. Like prostate cancer in men, both breast and ovarian cancer in women are sneaky—they go undetected until they have spread into other areas such as the fallopian tube, the pelvis,and the stomach. This is where it becomes tricky. At the point when it is spread so far, it is more difficult to treat and thus lethal. This is late-stage ovarian cancer. Early stage ovarian cancer, while still in the ovaries, is typically treated much more successfully with either chemotherapy and/or medication.

The risk of ovarian cancer is unknown as it currently unclear what causes it, although some factors that can increase the risk for it have been identified. Older age is one of the main factors and, while ovarian cancer can strike at any time, it is most common in women ages 50 to 60 years. Inherited gene mutations are the second-most common cause of ovarian cancer. Few ovarian cancers are caused by a BRCA gene mutation that is inherited from parents (hereditary cancer) and there are two different types. One is called breast cancer gene 1 (BRCA1) and the other is called, you could guess it, breast cancer gene 2 (BRCA 2). You’re probably wondering why ovarian cancer genes named after breast cancer. That is because these genes also increase the risk for breast cancer. Other factors such as family history of ovarian cancer (those who have two or more family members or second-degree relative who have had the disease) as well as long-term estrogen hormone replacement therapy are also said to increase the chances of ovarian cancer. Lastly, women whose periods started early in life and who were menopausal later in life are also at an increased risk. The National Ovarian Cancer Coalition adds a few more items to the list such as a triple negative breast cancer diagnosis at age 60 or younger, a history of colorectal or uterine cancer before the age of 50, a family history of breast cancer at age 45 or younger, to name a few.

So, wouldn’t it be nice if such an aggressive cancer that, once detected with certainty is deadly, could be nipped in the bud beforehand—especially for those who have an increased risk?

Well, it can be, thanks to genetic testing that looks for ovarian cancer risk genes.

It is a little-known fact It is a little-known fact that 1 in 4 women who have ovarian cancer have a hereditary mutation (have received it from family members) or a genetic mutation. This is a lot of women and BRCA genetic testing could have prevented hereditary ovarian cancer in the future. Let’s look at this from a much scarier perspective, shall we? An estimated quarter of a million people in the country have BRCA mutations while only 5% to 6% of them have been tested through specific BRCA genetic mutation testing. This means that people are either not getting tested enough or they are not aware enough. Or both! But let’s assume that people heavily assumed that ovarian cancer was an inherited cancer only and that could be behind the low percentage of tested individuals. But what if I told you that you don’t need a family history for you to have the mutation?

Given all this information, it is clear to see that everyone is at risk and women with ovarian cancer. So, the only way to eventually lower that risk is to test everyone and help them make lifestyle changes to keep the cancer risk at bay.

Genetic testing for ovarian cancer is done just like any other genetic testing. Following genetic counseling and a discussion about your lifestyle as well as family history of cancer, a blood sample is drawn. This sample is then processed so that your DNA is extracted from it, after which it will be analyzed to look for mutations in the BRCA genes. Positive test results may be both scary as well as devastating.From a positive perspective, however, knowing that one is at risk may bring about positive lifestyle changes that may actually lower the risks of actually having cancer or abolishing it completely. Negative test results are a relief. One knows that there is no risk and that their children and family members are also ok in that regard.

So, let’s get back to the initial question: “Should you get ovarian cancer genetic testing?” Before answering that, let’s look at your family history. Any family members that have had any type of cancer, not just ovarian or breast cancer? Then, yes, you should get ovarian cancer genetic testing. If you are lucky and don’t have any family members that have had cancer, don’t write genetic testing off yet. If you are older than 50 or 60, the answer is yes. If your period has started early, the answers are yes, again. If you have had long-term estrogen treatment, again yes. If any of the above is a no, there is still a chance you may be a carrier of the mutations, so that’s a general yes. If you know your genetic predispositions in terms of ovarian cancer, you could also know your predispositions to other cancers. Furthermore, knowing your risks means that you can inform family members of their risks, or the lack thereof.

However, I’m no certified genetic counselor. And genetic testing is deeply personal and complex. It is a decision you should make for yourself given the facts and figures. Perhaps a certified genetic counselor could best advise what you should do. It can be scary to find out you may be at risk. But knowing is half the battle.

Reasons Why Genetic Testing for Depression is a Good Idea

The American Psychiatric Association defines depression as a “common and serious medical illness that negatively affects how you feel, the way you think and how you act.” It also states that: “Depression causes feelings of sadness and/or a loss of interest in activities once enjoyed. It can lead to a variety of emotional and physical problems and can decrease a person’s ability to function at work and at home.” An estimated one out of every 15 adults is affected by depression annually while one in every six people experience depression at some point in their lives. While the disease can happen at any time in a person’s life, it typically first happens during the late teens to mid-20s, and women are much more likely than men to have depression. It is also a familial disorder—the chances of having depression are as high as 70% if a sibling has it. There are several things that can cause depression, one being genetics. In other words, it is a heritable disease, meaning that if someone who is your blood relative has it, your chances of having it are much higher.

Depression, such as bipolar disorder, post-traumatic stress disorder, major depressive disorder, or other mental health disorders, is currently treated with medication. In fact, studies have shown that half of those who are diagnosed with the disorder are using medication to treat it. So that means that the right drug can have a significant impact on the quality of life of a person with clinical depression. This makes psychiatrists’ prescription decisions even more powerful in terms of which medications to prescribe. However, when prescribing medication, there’s more educated guessing on the physician’s side than we’d like to think. While it is completely acceptable for trivia nights, prescribing medications should not be based on educating guessing as much. The truth of the matter is,it has been psychiatrists’ major technique in deciding how to go about treating a depressed patient.

Human biology is complex. Unpredictable. Far from universal when it comes to medication. Doctors rely on their education to make a decision about which one of the dozens of FDA-approved anti-depressants or other treatment is going to work for a particular patient. Given the nature of our biology, it is not surprising that the best medication or other treatment for depression is only found after several trials.

With the arrival of personalized medicine, however, doctors have the chance to make their prescription decisions based on something much more concrete: a patient’s DNA.

What does this mean

What does this mean? Patients that have been diagnosed with a major depression disorder provide a sample of their saliva to be used to extract their genetic material: their DNA. That, in turn, will be analyzed through a genetic test for several depression genes and genetic variations to find out how that person is going to react or respond to a panel of more than 55 psychotropic medications (or drugs that affect a patient’s mental state). Once their DNA has been analyzed against this panel, genetic testing yields information such as favorable or unfavorable drug interactions. The test essentially looks at how well someone metabolizes or simply processes a medication.By making all this information available to psychiatrists, they are able to make prescription choices accordingly.

So, given personalized medicine and the information that it can yield, let’s dive into the several reasons as to why genetic testing for depression is actually a good idea.

1.Knowing what type of depression you have can greatly increase your chances of both managing it as well as finding the correct medications for it. A test that looks for Cytochrome p450 helps doctors figure out if someone has depression that is resistant to drugs or not. (Those with drug-resistant depression are typically immune to or don’t react to medications for depression.)

2. As touched upon above a bit already, it is of great help to know which medications are going to be perfect. “Perfect” here is a drug that will treat or help a patient manage depression as effectively as possible in as little time as possible. This includes very little guesswork or repeated visits to the doctor. This also minimizes potentially dangerous side effects.

3. Genetic testing helps save time. Given the above two reasons, a patient who not only knows what type of depression they have but also what the best medications are for treating it are saving time by avoiding much of the guesswork that is involved in finding the perfect medication. Just imagine receiving a diagnosis and immediately knowing which drugs are guaranteed to help you. No more trial and error, unnecessary side effects, and recovery times as well as loss of hope.

4. Ultimately, genetic testing for depression saves lives. I’ve mentioned side effects a few times above. In addition to a drug being ineffective, side effects could include death. This is either due to ineffective drugs or simply a lack of follow-up care.

5. Finding out that you have a genetic predisposition to depression may be beneficial to other family members as well, not just the person looking to get tested. For example, a person that has had genetic testing for dementia and knows their chances of developing the disease, they might be able to help relatives who do have that information.

6. Knowing that you are at a risk of developing depression may cause you tolive a more meaningful and healthy life. Also, finding out about genetic markers for depression may help you understand what has potentially caused it, which will make it possible to fix things.

7. Genetic testing can be done as early as childhood. This enables parents to find out if their kids are at risk and can help them take steps in the right direction to ensure a better quality of life later on.

Overall, the benefits of genetic testing when it comes to depression greatly outweigh the risks. By staying informed and in the know, people can be proactive in managing depression as well as take steps to minimize its effects. All this in a timely manner so that they can go on to live the best lives they can.