We are living in the age of information, where consumer access to scientific and statistical data is readily available to guide our judgement in all areas of life.
While various technology platforms can be used to improve business decisions, educational opportunities and social interest, the potential for personal health management is emerging as one of the most rewarding fields of this era.
Never before have we been able to make such specific decisions on what to eat and how to treat ourselves. Moreover, the advancement of lifestyle genetic testing has provided us with the extraordinary ability to extrapolate information from our DNA for the prediction of best practice healthcare.
What can a genetic test tell you?
Once of the most common questions asked, is “Which diseases can be detected through genetic testing?” Despite the indisputable advantage of foresight that could be obtained from such knowledge, this question is also the reason that many people steer clear of exploring their own DNA- for fear of what the future might hold.
However, you needn’t be wary. Not all genetic tests are diagnostic. Many genetic variants simply give an indication of how your body will respond to different environmental conditions. With this insight, you can manipulate your environment to optimise your wellbeing and minimise hereditary health risks.
(The environment so to speak, is the chemical environment created by your food choices, your exposure to toxins, your hormone balance, your genetic methylation status, and the physiological effects of stress and exercise.)
For more detail on the optimisation of your personal health environment through lifestyle genetic testing, explore our blog on The full picture of you: How genetic testing can provide a well-rounded view.
Which genetic test is the best investment?
The first step in assessing the suitability of any DNA test, is to understand the different types of genetic test options available, and the type of information that will be obtained from each one. This way, you will be able to make an informed decision on your purchase and will not be disappointed by the value in test outcomes.
What are the different types of genetic tests?
Diagnostic testing: Some diseases are caused by mutations of specific genes in the human genome. Examples include Huntington’s Disease, Sickle Cell Disease, Fragile X Syndrome, Duchenne Muscular Dystrophy and Polycystic Kidney Disease.
If symptoms of these diseases are present, a DNA test would be required to confirm a diagnosis. Such tests can only be ordered by a doctor and the results are usually relayed alongside genetic counselling.
Predictive testing: Some diseases run in families. If you have family history of a specific condition, predictive testing can be used to determine your risk of developing that condition, before symptoms appear. This allows for proactive management to prevent (or significantly reduce) the onset of disease.
While a positive result may be devastating, it can offer the opportunity for early intervention and disease prevention e.g. an elective mastectomy to counteract the risk associated with carrying the Hereditary Breast Cancer gene, BRAC1.
Other examples include Familial Hypercholesterolemia, Factor V Leiden Thrombophilia (which results in increased risk for blood clots), Lynch Syndrome (which results in increased risk for colorectal cancer) and Hereditary Hemochromatosis (which results in excess iron absorption.)
Predictive testing and the associated intervention strategies can be discussed with your healthcare practitioner and screening for such conditions is usually indicated if there is a known family history.
Carrier testing: Some diseases, such as Cystic Fibrosis, can only be inherited if a certain genetic mutation is passed down from both parents.
If the genetic mutation is inherited from only one parent, such an individual will be known as a healthy carrier. A carrier will never develop the disease, but will be able to pass it down to their children.
Carrier testing may be useful for couples who have the same genetic condition within both families. However two carrier parents will not definitively pass on the disease-there is only a 25% chance with each pregnancy that the child would be affected.
This type of genetic condition is called an autosomal recessive disorder and testing is supervised by a medical practitioner and/or genetic counsellor.
Direct-to-Consumer (DTC) testing: Ancestry testing and lifestyle genetic testing can be ordered by consumers without medical supervision.
However, registered and accredited Health Care Practitioners who are appropriately equipped to interpret genetic tests can offer qualified lifestyle guidance according to individual DNA results.
Pharmacogenomic testing: As your ability to effectively metabolise different medications depends on your DNA, this revolutionary genetic test can offer insights into which medications will work best for you as well as the optimum dosage.
With such a variety of drug options on the market, pharmacogenomics can guide doctors in making the best drug choice for their patients to optimise treatment efficacy and minimise side effects. This test can be used for patients of any age, and covers a broad range of pharmacotherapy including anti-depressants and anti-anxiety medication, pain relief, cardiovascular drugs, immunosuppressants, contraceptives, anticonvulsants and even ADHD medication.
Prenatal testing: Prenatal genetic testing can be used to detect common chromosomal abnormalities in placental DNA. This type of genetic testing is available from 10 weeks’ gestation and is less invasive than an amniocentesis. It is not a diagnostic test, but will provide an indication of the need for further diagnostic testing.
Preimplantation testing: This test is an invaluable adjunct to In Vitro Fertilisation, as it screens embryos for genetic abnormalities before implantation to ensure that they do not contain chromosomal defects.
Preimplantation Genetic Testing (PGT) can be used to screen embryos for familial genetic conditions, for structural chromosomal rearrangements, and for any changes to the number of chromosomes present. For more information on embryo screening, click here.
Why has genetic testing become so popular?
In the age of personalised nutrition, a one-size-fits-all approach to health management has become redundant. Genetic knowledge has become a superior resource and a necessary requisite for accurate medical decision making.
The hundreds of variations within your unique genetic code are one of few remaining data modalities that cannot be sourced from AI, although it can be used to assist in the interpretation of your results.
Understanding your own body at DNA level is the best investment that you can make for a healthy future.