Our Primer on DNA Genetic Testing for Health

To test or not to test?

DNA genetic testing or simply genetic testing for short, is a kind of medical test that determines changes in your genes, chromosomes, or proteins. The results of your genetic test can help identify your chance of passing on or developing a genetic disorder. Also, a genetic test can rule out or confirm a suspected genetic disorder that you might have. In more practical terms, a genetic test can:

Help you understand how your genes (or DNA) can affect your health and fitness potential
Inform you of your likelihood to develop breast cancer, early-onset Alzheimer’s disease, Parkinson’s disease, age-related macular degeneration, coeliac disease, and other diseases.
Allow parents to plan for the near future or take measures to minimise the chances that their kids will inherit a disease. All of this should be done under the guidance of their primary healthcare provider or genetic counsellor.
Relay information concerning your overall health, possible predisposition for any addiction, your chances of experiencing deep sleep (deep sleep may be genetic), and weight problems (significance of genetic weight).
Provide information on how your genes may enable you to become more sensitive to common irritants, allergens, or sensitivities.
And so many more practical uses!

Don’t get overwhelmed because there are more than 1,000 genetic tests currently available. There are predominantly three methods by which genetic tests are carried out: molecular, chromosomal, and biochemical methods. One or all three of these methods are used in the different types of common genetic tests, which are:

Newborn screening
Diagnostic testing
Carrier testing
Preimplantation testing
Prenatal testing
Predictive and presymptomatic testing
Forensic testing

As an adult consumer dissolved in the general population, you will mostly be interested in the diagnostic, carrier, and predictive genetic testing. Some or all of the common genetic tests above are offered by different genetic testing companies like:

23andME. The first and only US Food and Drug Administration approved genetic testing company as of this writing.
Genebase Systems
EasyDNA
Gene by Gene
Who’zTheDaddy?
24Genetics
DNA Consultants
AlphaBiolabs Ltd.
TeloYears
Oxford Ancestors Ltd.

These companies provide direct-to-consumer (that’s curious you) tests you can avail of. These are heavily marketed straight to you without involving any healthcare provider. These tests usually request you to give a sample of your urine or saliva which you can collect and send it to the genetic testing company for analysis.

The Concept of Epigenetics and Child Development

Before we dive deep into the advantages and disadvantages of genetic testing, let’s first discuss a little about the concept of epigenetics and how it relates to your child’s development. Epigenetics disproves the notion that their genes are set in stone. There’s no clear winner between nature versus nurture. It’s almost always both. Epigenetics is a rapidly emerging area of scientific study that explains how environmental factors affect or influence the expression of genes. In other words, your child’s experiences during childhood can affect how his genes are physically expressed. So, don’t panic or worry if your child has been diagnosed, or has higher chances of developing a disease. The environment that you create around your child still bears weight significantly on how your child will be able to cope with the disease.

Advantages and Benefits of Genetic Testing

The relief from excruciating uncertainty. Good news or bad news, a genetic test may be able to inform you about your genetic makeup. It can aid the diagnosis of a genetic disorder. If you know the correct diagnosis, the right treatment can be given to you. For example, breast cancer runs in your family. If your genetic test result turns out you have an increased risk of developing breast cancer, you can do more regular check-ups and follow-ups with your doctor to catch it early (if it does develop). If it turns out that you don’t have an increased risk, imagine your tremendous sigh of relief.
You can plan accordingly. You and your partner want to have children someday. But something is holding you back. Both of you carry the sickle cell gene, the gene responsible for sickle cell disease. Both of you can pass it on to your future children. Now, it’s possible to test your unborn baby while pregnant to see if it’s already affected. If there’s an increased risk the unborn baby is affected, you can physically and mentally (more important) prepare for the challenges ahead and get all the help you need in advance. More importantly, your decision to have children may be affected by some test results.
Knowledge is power, not just for you, but for the whole family. Genetic conditions run in families and through generations. You’re not just testing and benefiting yourself. The test result you get can be useful to other members of your family. If the entire family is aware of the genetic condition and its possibility to run in the family, it can avoid a misdiagnosis. Informing the attending doctor at the time of consultation what this condition is can greatly affect and benefit the treatment they will receive.

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Disadvantages and Drawbacks of Genetic Testing

You let a single test run your life. You live in fear and anxiety. You’re afraid that the test will become a reality for you, and you’ll suffer from the disease it turned positive to. This extremely limits your life and how you enjoy it.
The severity of the medical or genetic condition can’t be predicted. The identity of the altered chromosome or gene may be determined, but how really bad it’s going to be can’t be ascertained.
Expose a long-buried family secret. Imagine your surprise (or suspicion) that you’re not the biological parent of one or all of your children. Disastrous.
As stated before, genetic diseases and mutation run in families and through generations. You may want to know that you have the risk of developing a particular disease, but maybe another family member prefers to remain ignorant.
You can’t do anything about it. The genetic test may have confirmed a dreadful diagnosis, but there’s no available treatment.
Some genetic mutations are difficult to find. You can get frustrated, over and over.

Importance of Genetic Counsellor

After mentioning some common disadvantages, you need guidance with the results, which is why you need a qualified healthcare practitioner adept at DNA genetic testing or a genetic counsellor. Genetic counsellors have specialised training not just in genetics but counselling as well. Include them in your medical team to assist you in navigating your way around the thousands of genetic tests available. A genetic counsellor will determine your genetic risk and tell you from which genetic tests you can benefit the most from.

List of Common Problematic Genetic Mutations

MTHFR gene mutation. MTHFR stands for methylenetetrahydrofolate. This mutation can lead to homocystinuria, spina bifida, and anencephaly.
CFTR (cystic fibrosis transmembrane conductance regulator) gene mutation – cystic fibrosis
p53 gene mutation – some cancers
Haemoglobin beta gene mutation – Sickle cell disease
HEXA (Hexosaminidase A) gene mutation – Tay-Sachs disease

The goal of genetic testing is to help you or someone you know properly deal with a genetic condition or risk of developing a disease. Together with your genetic counsellor, discuss the advantages and disadvantages and their consequences that are specific to you. Let the genetic test work for you and help you make the right decisions for your health and not the other way around.