What are the pros and cons of genetic screening?

Written by Claudia Smith
19 February 2016

It is important to weigh the advantages and disadvantages of genetic screening. If you have found yourself entering “genetic screening pros and cons” into your internet’s search bar, it is helpful to keep in mind that the most obvious benefit of genetic screening is the opportunity to better understand your genetic predisposition to developing a certain disease, and to make lifestyle changes to address the issue. That said, screening is not always perfect, but it can be a valuable tool to assist you in making important decisions about your health.

When some people hear the term genetic screening, they think of paternity testing. While this is certainly one aspect of genetic testing in general, this article is about screening for conditions to acquire helpful information to keep you healthy. This includes adapting your diet and exercise regimen to maintain good health, and taking measures to prevent or delay the onset of conditions you’re at risk of suffering with later in life. But what are the pros and cons of genetic screening? Let’s start off briefly with the most prominent pro.

Planning ahead

It goes without saying that the ability to plan ahead – and make healthy decisions – has a positive effect on the quality of your life and your overall life expectancy. Screenings can potentially lead to a reduction in disease incidence and mortality by inspiring healthy habits earlier in life. (We’ll get deeper into the genetic screening pros and cons later, but this is the short answer for pro).

Genetic screening you can undergo at home

But what does it take, and isn’t genetic screening incredibly expensive? While clinical testing may seem overwhelming to many, the good news is DNA tests can be done easily and in the comfort of your very own home. DNA Testing Choice is a trusted site, based in the United Kingdom, featuring an extensive selection of DNA tests you can purchase online and take at home. A list of the DNA tests you can take to assess your genetic predisposition to disease, or make fitness and diet recommendations is available via the following link: https://dnatestingchoice.com/health-testing

The tests available include the hugely popular 23andMe saliva based test – which is named for the 23 pairs of chromosomes that make up human DNA – that estimates each individual’s predisposition to more than 90 traits and conditions ranging from baldness to blindness. A less well known test is produced by My Gene Diet, which provides a gene analysis suggesting the best diet, effective exercise routine, and most successful weight management plan.

In this list you will notice each test is broken down by rating and rank depending on the reviews each individual test receives, the test provider, time table for the fastest results (most test results are typically available in a few weeks, with the exception of GENEU where results are released the same day), the lab location where the test is processed and the price of each test. This detailed table enables easy searching and test selection.

Now that you are aware of the wide variety of screening options, let’s go ahead and, similarly to our article about the implications of genetic testing, lets tackle the complexity surrounding the pros and cons of genetic screening.

DNA and heritability

First off, a brief overview of how DNA works will be helpful: Human deoxyribonucleic acid – more commonly known as DNA – contains the intricate code for making you who you are. DNA determines your hair colour, eye colour, height, the rate at which you metabolize food, and your predisposition to chronic diseases or conditions, among a myriad of other traits. You receive half of your DNA from your mother and the other half from your father.

Scientists who study genetics know that specific patterns within a DNA strand indicate an increased risk of diseases or certain birth defects. If two people who carry a gene for a particular disease create a child, there is a chance that the child will have an increased risk of that same disease or defect. This explains why your grandfather’s early heart attack puts you at a greater risk of heart problems later in life. It also explains why you may or may not have the same red hair as your mother, or her mother’s mother.

Genetics can certainly seem complex but just keep in mind that we are hard coded based on the genetic makeup of our ancestors. Genetic screening can also identify if you and your partner carry a recessive – or hidden – gene that may be passed to your child and negatively impact their future.

Mutations

But what aspects of screening someone’s DNA point to a possible disease later in life? Well, that all has to do with something known as mutations, also known as genetic variants. A gene mutation is a permanent alteration in the DNA sequence that makes up a gene. Mutations come in all kinds of sizes, and they can impact a single DNA strand or a large segment of a chromosome, which makes up multiple gene sequences.

Gene mutations are typically broken down into two categories:

• Hereditary mutations are just as they sound. They are inherited from either a mother or father, and are present throughout an individual’s life. This means the “code” for the mutation is present in every cell of the person’s body.

• Acquired mutations happen at some point during a person’s life. These mutations are present in certain cells, not each and every cell in the body. These changes can be caused by environmental factors (such as harmful ultraviolet radiation). Mutations may also occur when the DNA strand makes a mistake when it copies itself during cell division. It is important to understand that acquired mutations cannot be passed from parent to child.

A source of relief

Now that you better understand what DNA is, let’s dive deeper into the specific advantages and disadvantages of genetic screening. We touched on the ability to plan ahead earlier, but the advantages of genetic screening are much more complex. Test results can often provide an incredible sense of relief from uncertainty. For those who may be aware that a specific disease or cancer runs in their family, the discovery via a genetic test that they may be less likely to develop it can be cause for celebration if worrisome thoughts have plagued them in the past.

A catalyst for exploring early treatment options

Conversely, genetic screening may reveal that a person carries a certain gene that puts them at an increased risk of developing a disease. While this may initially seem like more of a negative than a positive, this important information enables individuals to seek out additional diagnostic testing from a medical institution, and explore early treatment options that could save their life. Test results can also inspire positive lifestyle changes that help to ward off disease. In fact, a test result could be the catalyst that inspires someone to cut out soda and refined sugar and increase their daily exercise. Cultivating healthy habits is always a step in the right direction!

Starting a family

Test results may also help couples make important decisions about whether or not to expand their family. If test results indicate that there is a low risk of passing on a genetic condition, this may give couples incredible peace of mind if they are considering having children.

False sense of security

But what about the disadvantages of genetic screening? First and foremost, a false sense of security is a serious concern. Simply put, normal test results do not always guarantee healthy genes. Furthermore, a normal test doesn’t mean a gene mutation will never occur. (Keep in mind, some of these mutations are environmental). As an example, just because you do not carry the gene for skin cancer from your parents, it doesn’t mean you should bake in the heat of the day without sunblock.

While genetic screening is certainly useful, it does have its own limitations. It is not possible for tests to provide all the necessary information about a person’s condition or genetic makeup. As an example, a test may indicate a problem down the line, but there is no way to know if a person will actually suffer from said disease or how he or she may experience the condition.

A negative result

Additionally, it is not always clear what a person should or should not do once they receive their genetic test results, as often doctors do not know the most effective ways to prevent certain diseases, conditions or cancers.

For example, let’s say your most recent genetic test indicates you may be at a slightly higher risk of developing Amyotrophic Lateral Sclerosis, or ALS (also widely known as Lou Gehrig’s disease, after the famous American baseball player). ALS is a specific disorder that involves the death of neurons, resulting in stiff muscles, muscle twitching, and gradual weakening due to muscles decreasing in size. This eventually results in difficulty speaking, swallowing, and breathing. Doctors estimate that five to ten percent of ALS cases are genetically inherited, however, tragically, there is no known cure for ALS. Research is ongoing but so far, scientists aren’t sure why the disease progresses more quickly in some patients than in others. If a test were to indicate that you might be in a higher risk category – whether or not you eventually developed the disease – you might understandably be unnerved and exceptionally paranoid about your health. This stress could negatively impact other aspects of your life as well, leading to anxiety issues, stomach ulcers, etc.

Family strain

Some screening results may also require additional family members to be screened. From time to time during this process, family secrets are sometimes revealed. This could include anything from adoptions, paternity, and other difficult family issues.

Screening results themselves may also bring up feelings of pain or irritation. Having a specific gene – or knowing that you passed a gene to your child – can bring out feelings of guilt or anger. Certain screening results may also impact future relationships with a spouse, sibling, parent or other family member, which can be enormously stressful. Make sure you consider this prior to undertaking genetic screening.

Your medical history

Perhaps even more shockingly, while the results of genetic and medical tests are supposed to remain private, there is the possibility that future employers or insurance companies might obtain information about your medical history, which could include the results of any genetic screening you’ve undergone. Based on the test’s results you could be denied employment or insurance.

Cost

When weighing the advantages and disadvantages of genetic screening, cost is often a concern, as multiple screenings can get a bit expensive. There are health insurance policies that cover the cost of genetic screening when it is suggested by a medical professional. However, some people might prefer to cover the full cost of the screening(s) out of pocket, as the results may negatively impact the cost of health insurance. That said, in the United Kingdom the NHS offers a comprehensive range of treatments and services, so if a doctor recommends genetic screening, it is very likely the cost will be covered, however there are a few exceptions to every rule.

The implications

If you are seriously considering the pros and cons of genetic screening it is of utmost importance to deeply consider the implications of the actual test. Can you handle a negative result? Will an unfavourable test result inspire you to make healthy tweaks in your everyday life? Will a test result send you into an unnecessary anxiety spiral? Can you move on with your life free from worry? Only you can figure out what is right for you. Gather as much information and take as much time as you need to decide. Genetic screening can be a great tool, but make certain you are ready for the results.

Thoughtfully weighing genetic screening pros and cons is the first step in deciding whether it’s right for you.