Genetic testing involves examining your DNA and is able to detect any changes in chromosomes, genes or proteins. The results of a genetic test can confirm (or rule out) a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.

There are several methods which can be used for genetic testing;

• Chromosomal genetic tests to look at whole chromosomes or long lengths of DNA to see if there are extra copies of a chromosome or deletions of a part of a chromosome
• Molecular genetic tests which look at single genes or short lengths of DNA to look for variations or mutations
• Biochemical genetic tests to look at the amount or activity level of proteins which indirectly indicate if there are any metabolic abnormalities

Click to view Invitae video on Genetic Testing

Diagnostic Genetic Testing in healthcare

1. Newborn Screening for Inherited Metabolic Diseases helps to identify genetic diseases which can be treated early in life to prevent complications or even death such as;

• Phenylketonuria
• Congenital Hypothyroidism

2. Carrier Testing helps to identify people from high risk ethnic groups who may carry a gene mutation for an autosomal recessive disease.  This testing is often requested by couples who have family members affected by these diseases and would like to determine the risk of their future child inheriting one of these diseases;

• Sickle cell disease
• Thalassemia
• Cystic fibrosis
• Spinal muscular dystrophy

3. Pre-Implantation Testing (also known as Preimplantation Genetic Diagnosis) helps to detect genetic defects in embryos during In-Vitreo Fertilisation (IVF)

4. Pre-Natal Testing is usually offered at the first trimester of pregnancy to detect chromosomal disorders such as Down’s syndrome for high risk mothers

5. Predictive (also known as Pre-Symptomatic) Testing is used to detect and identify gene mutations which can increase a person’s chance of developing certain types of cancer.  Mutations in BRCA1, BRCA2, ATM and CHEK2 genes increases the cumulative risk of breast or ovarian cancers

Non-Diagnostic Lifestyle Genetic Testing

This is a relatively new form of genetic testing which helps Healthcare Practitioners advise people on how to live a healthy lifestyle.  Using AI analysis on the thousands of genes obtained from a simple saliva sample, the results produces a polygenic score which gives your Health Practitioners detailed information to guide how you can make specific dietary and lifestyle decisions to live a better informed life.

Discuss your results with your doctor, genetic counsellor, pharmacist, dietician or health practitioner.  In some cases, your doctor will recommend a treatment plan you may need.  In others, you may be advised to make certain lifestyle changes that can help reduce your risk of developing certain diseases by leading a heathier life by stopping smoking, eating better, doing more exercise or losing weight. 

Find and Get your DNA Kit from your nearest health professional below!

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Disclaimer. TELEME blog posts contains general information about health conditions and treatments. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. The information is not advice and should not be treated as such. 

If you think you may be suffering from any medical condition, you should seek immediate medical attention from your doctor or other professional healthcare providers. You should never delay seeking medical advice, disregard medical advice, or discontinue medical treatment because of information on this website.