The odyssey of genetic testing began with sequencing the first human genome in 2003. We have come a long way since then; it is increasingly used these days. This test involves examining a person’s DNA (information that is responsible for individual uniqueness, such as their appearance, the way their body functions, and the way the body responds to its surroundings) to look out for any abnormality. A sample of blood, skin, hair, amniotic fluid (the fluid around a fetus during pregnancy), or other tissue is used for genetic testing. Advances in vitro fertilization methods utilize genetic testing to tackle issues related to infertility.
Let us have a look at various ways it has been helping millions of people today.
This is done as part of carrier screening. The term ‘carrier’ is used in genetics to refer to a person who has the disease-causing gene but doesn’t display any diseased condition or the symptoms associated with that disease. However, they can pass on the disease to their child. This is mostly a precautionary step that people these days are opting for before marriage or conception. A couple can opt to go for genetic screening to check for genetic compatibility before planning for a pregnancy. This makes them aware if they have a chance of giving birth to a child with defects.
Parents also have options like in vitro fertilization (IVF). Under this treatment, tests such as preimplantation genetic testing for aneuploidies (PGTA) and preimplantation genetic testing for monogenic disorders (PGTM) can be carried out on the embryo in a lab setting. Conditions including Down syndrome and various monogenic diseases can be ruled out through these tests. This ensures that the selected embryo has healthy genes before being implanted into the womb of the mother.
Also known as non-invasive prenatal testing (NIPT), it is genetic testing done during pregnancy. This procedure can easily detect the presence of any deformity in the developing fetus by extracting the baby’s DNA from the mother’s blood. In time, the parent may make an informed decision to continue or terminate the pregnancy once they are aware of the results. Birth defects in a baby can be a huge burden on families that are not prepared for the outcome. It is best to make a wise decision beforehand.
Newborn screening helps identify serious but rare health conditions at birth. With a simple blood test, doctors can check for rare genetic, hormone-related, and metabolic conditions that can cause serious health problems. Newborn screening lets doctors diagnose babies quickly and start treatment as soon as possible. Early treatment is important, because it may help prevent more serious health problems for your baby.
Besides reproductive health, genetic testing also caters to:
Testing hereditary disease
A person of any age can know if they are susceptible to a hereditary disease or mutational change that might incur later in life. This usually is done by those who have people in their families with a hereditary disease. Both the presence of a mutated (changed) gene or defective gene can be detected by this. These results help people to prepare well in advance for any condition they may encounter at an advanced age.
Testing for personalised medicine
Personalised medicine is becoming a norm these days. Here, prevention, diagnosis, or treatment of a disease is decided based on a person’s genetic makeup. Many serious diseases such as cancers have particular biomarkers, which to a large extent dictate which treatment regimen will work and which will not. Genetic testing helps determine the presence of biomarkers and based on the result, the doctor can prescribe the best treatment that will offer an enhanced survival rate for that person.
There are many potential benefits of genetic testing. These can include offering a sense of relief based on increased knowledge about your health and identifying a genetic condition that might be passed on to your offspring, which can help you decide if or how you want to have children. In addition, finding a genetic disorder in an embryo gives you the opportunity to decide whether to continue the pregnancy or not. Genetic testing helps diagnose a genetic cause of infertility. Moreover, you can seek early monitoring or appropriate treatment, whether for yourself or your child when diagnosed with a genetic disease. To maximize the utility of genetic testing, it is best to educate other family members about their potential risks.
(The article is written by Dr.Gauri Agarwal, Founder and Director of Seeds of Innocence.)