Genetic Testing – Peace of Mind for the Whole Family

It is likely that you have come across families in which several members have similar health problems or illnesses, for example, many members of the same family battling cancer or high blood pressure, or a number of family members with diabetes. All these conditions are genetic disorders, inherited through birth, which means that they cannot be completely cured, but rather, only the symptoms can be alleviated or reduced. Because of this, early prevention is the best approach with genetic testing offering couples an opportunity to assess and manage the risk before they start a family. Based on detailed analysis of each patient’s genes, lifestyle and environment, Precision Medicine is an individualized approach to medical diagnosis, treatment and, most importantly, prevention. One application of precision medicine is Preconception Genetic Testing, which involves analyzing more than 600 recessive genes to assess the risk of up to 200 genetic conditions being passed on to the next generation with 90% detection rate.

A genetic disorder is a disease that is caused by abnormalities in a person’s genes, which are carried on the chromosomes in the human body, and that can be passed down to the next generation of a family. For example, hemophilia, thalassemia, dwarfism, colon polyps, etc.

In Thailand, the five most commonly-occurring genetic disorders caused by hidden (recessive) gene mutations in parents are thalassemia syndrome, spinal muscular atrophy, cystic fibrosis, fragile X and hearing loss/deafness.

• Thalassemia is caused by red blood cell abnormalities. While there is a 100% certainty that children will be born with thalassemia if both parents have the condition, there is also a 25% risk when both parents are carriers.
• A condition affecting nerve cells in the spinal cord, spinal muscular atrophy is passed on through an autosomal recessive pattern, meaning that it occurs when one mutated gene is inherited from each parent.
• Caused by a gene mutation, cystic fibrosis affects the respiratory, digestive and reproductive systems. There is no known cure, with treatment aimed at easing symptoms, improving quality of life and reducing complications.
• Another genetic disorder passed on by parents through recessive gene mutations is fragile X, which causes a range of brain developmental problems including autism, ADHD, hyperactivity, behavioural issues and communication problems.
• Loss of hearing is another common problem, with 40% of cases in children attributed to genetic causes.

For couples planning to have children, it is suggested that planning should begin at least three months before pregnancy, at which time you should undergo a physical examination and genetic testing. Currently, there are a variety of levels of testing, including carrier testing which determines whether parents are at risk of being carriers of a genetic disease. This can be done before pregnancy occurs, or if you are already pregnant, your doctor can give you prenatal testing, which is a screening for genetic disorders to determine the risks of chromosomal abnormalities in the fetus. This can be done using the amniocentesis procedure to examine the amniotic fluid, although modern medical technology has developed substantially and more advanced techniques are now preferable to amniocentesis and safer for the unborn child.

• Couples planning to have children
• Women who have a medical history of 2 or more consecutive miscarriages
• Pregnant women aged 35 years and over
• Married couples who have tried IVF (In Vitro Fertilization) a number of times but without success
• Those in families where several family members have a genetic disease

Genetic testing is one way to ensure that new babies coming into the world will not have to do so faced with major health risks. All parents-to-be should understand that we are not all completely perfect from birth, and it is not important to establish whose fault any imperfection might be. What is important is that we are prepared to deal with such imperfections, whatever they may be. If, during testing, abnormal chromosomes and/or genes are found, nobody should receive any blame, as no matter what, there is no one that is 100 percent perfect. Knowing this, the safest and best course of action should be that husbands and wives planning to have children, go hand-in-hand before pregnancy to receive genetic testing, thus allowing peace of mind for the whole family.