IT'S IN MY DNA
Her World Malaysia|March - April 2020
The world seems to have gone into a DNA testing frenzy as millions are signing up to get insights on who they are. Here, we show you what to expect if you sign up for one and help you decide if it’s well worth your money.
Lorraine Chai

WHAT CAN DNA TELL YOU ABOUT YOUR HEALTH?

Deoxyribonucleic acid, commonly known as DNA, is a ladder-shaped ‘double-helix’ molecule that holds all the information that builds and maintains an organism. As the genetic material, or in simpler terms, a set of instructions, DNA is like a blueprint of you. It is hereditary in that among the 46 chromosomes handed down to you, half is from your mother and the other half comes from your father. Organised into 23 pairs of chromosomes (21 pairs for individuals with Down’s syndrome), it determines your physical traits, such height, hair and eye colours, as well as how your bodies function and even your impulsive tendencies.

SOME OF THEGENETESTSTHATARE AVAILABLE :

a Newborn screening where blood sample is typically collected from the heel (a small prick) of newborn babies for various metabolic disorders (G6PD deficiency, phenylketonuria, congenital hypothyroidism). This will help to identify these disorders and when found, treatments can be planned early so that it will not hinder the child's normal growth development in the future.

b Symptomatic testing of individuals that present specific conditions or abnormalities (global development delays, abnormal facial/anatomical features, strong family history of that disease).

c Carrier testing of individuals or couples that may be carrying one defective copy of genes that cause specific disorders. This is in order to understand the risk of having a child with genetic conditions such as thalassemia, sickle-cell anemia and cystic fibrosis.

d Pre-implantation diagnostics are performed on fertilized embryos to screen for abnormalities before they are implanted in the uterus during in-vitro fertilization (IVF).

e Prenatal testing, as the name suggests, is carried out during pregnancy to ascertain the risk of the baby having any genetic abnormalities, especially for couples that have an increased risk of genetic disorders.

f Pharmacogenetic testing where an individual’s response to a drug is predicted before the drug is administered to determine the effective and safe dose, and how to administer dosage increments.

g Presymptomatic and predictive testing to detect the presence of genetic mutations that are not necessarily causative but associated with disorders that manifest later in life (i.e. at the time of the test the individual does not display any symptoms of the disease). For instance, cancer, heart diseases, Alzheimer’s disease, and Huntington’s disease.

GENETIC TESTS: WHAT YOU NEED TO KNOW

IT CAN BE USED TO DIAGNOSE A MYRIAD OF DISEASES

But not all diseases! Professor Dr Abhi shares that genetic tests can only be used to test for diseases in which a known DNA mutation(s) (changes in an individual’s genes) is known to cause or is positively correlated with the disease, such as haemophilia, cancer and diabetes, or chromosomal disorders such as Down syndrome, Turner syndrome, DiGeorge Syndrome.

KNOW YOUR FAMILY HEALTH HISTORY BEFOREHAND

Since you share such close genetic similarities (50 per cent similarity with your parents or siblings, 25 per cent similarity with your grandparents and 12.5 percent similarity with your first cousins), their medical history can potentially give you an idea of what yours and your children’s health status will be like! “In order to study this, you will require good records of family medical history, taken from various family members. A family pedigree chart is often plotted to depict the occurrence of specific diseases or conditions. By doing so, clinicians can establish the probability of a child having a particular disorder – such as if an individual is a likely carrier of a disorder or has the risk of getting a particular disease,” Professor Dr Abhi explains. Even without a genetic test, a strong family history of a disease coupled with good medical records can inform if you have an elevated or lower risk for particular diseases; this includes multifactorial diseases (where the genes alone cannot predict the manifestation of a disease) such as diabetes, cancer, etc. Knowing your medical history allows doctors to make faster and more accurate diagnostics and prescribe more effective medications.

UNDERSTAND THE RISKS AND LIMITATIONS

And prepare yourselves for a potential need to make difficult decisions or live with a worrying outcome for the rest of their lives. “Taking a genetic test requires you to be sufficiently informed in order to consent to the test – which is why it is also essential that you get genetic counselling when or after you receive your test results. It’s so that you receive clarifications regarding the various genetic terms, the significance of your test results and the choices that are at your disposal,” Professor Dr Abhi suggests. If you receive a ‘positive result’, it usually means a disease-causing genetic mutation has been found. It is then imperative that your doctor or genetic counsellor explain what it means to you and your family and how you might use this information. For pre-implantation and prenatal genetic testing, decisions will need to be made, whether to go ahead with the IVF or pregnancy, or not.

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