World Health Day: Role Of Genetic Testing In Pregnancy Management For Healthier Outcomes – News18
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As we focus on prioritizing preventive healthcare, genetic testing will remain the game-changer in reducing the burden of inherited diseases and promoting healthy futures.
With nearly 25 million births in India each year and the rising burden of genetic disorders, pregnancy care has evolved from conventional approaches to methods that incorporate genetic testing, offering a deeper understanding of inherited conditions
Over the last few years, the integration of scientific research and technology applications in the healthcare space has enabled access to many innovative solutions, increasing the focus on preventive healthcare. With nearly 25 million births in India each year and the rising burden of genetic disorders, pregnancy care has evolved from conventional approaches to methods that incorporate genetic testing, offering a deeper understanding of inherited conditions. Genetic insights allow individuals and families to make informed decisions, reduce the risk of preventable health issues, and move towards a healthier future. As we celebrate World Health Day this year, Dr Priya Kadam, Director of Reproductive Genomics, MedGenome helps us look at the transformative role of genetic testing in shaping personalized healthcare.
Importance of Genetic Testing
Genetic testing offers crucial insights at every stage of life, helping individuals and families make proactive and informed health decisions. From carrier screening before conception to non-invasive prenatal testing (NIPT) during pregnancy and newborn testing after birth, these tests identify potential risks early, allowing for timely medical interventions.
Even before they conceive, couples can consider undergoing carrier screening tests that determine the chances of them passing on genetic disorders such as thalassemia, cystic fibrosis, or sickle cell anemia to their offspring. Knowing this sooner can enable early preventive choices, like opting for reproductive alternatives such as in-vitro fertilization (IVF) followed by preimplantation genetic testing (PGT) or using donor gametes.
After conception, a non-invasive prenatal test (NIPT) can help identify serious chromosomal abnormalities, such as Down syndrome, Edwards syndrome, and Patau syndrome, as early as 10 weeks of gestation . With a greater than 99% detection rate for Trisomy 21 (Down syndrome), NIPT provides the expecting family with useful information that can help them prepare for necessary medical treatments or consider other options if warranted.
Prenatal testing also includes techniques such as amniocentesis and chorionic villus sampling (CVS) if there is a need for additional confirmation of the genetic abnormality. These provide detailed diagnostic information that enables the family to make informed pregnancy-related decisions.
After birth, newborn screening is a vital step in identifying metabolic and genetic conditions early. Disorders such as phenylketonuria (PKU), congenital hypothyroidism, and sickle cell disease can be managed effectively if diagnosed at birth. In India, while improvements in neonatal screening programs are expanding, there is a demand for confirmation of diagnosis, greater awareness, and accessibility.
Newborn screening programs in countries with a robust framework have reported a 50-80% decrease in infant mortality rates associated with advances in early detection and interventions for at-risk newborns . Enhancing India’s newborn screening framework could provide a meaningful benefit for public health.
Genetic analysis continues beyond early infancy, revealing predispositions toward diseases such as cardiovascular conditions, inherited cancers, and neurological syndromes. Early diagnosis is followed by health-promoting behavior changes, preventive interventions, and targeted surveillance that greatly enhance prognosis.
For instance, in India, Thalassemia is among the most prevalent inherited blood disorders, occurring in almost 10,000 children born every year. With more than 4 million carriers in the nation, genetic screening is a key factor in minimizing its occurrence. Various government and private healthcare programs now focus on early genetic screening to enable couples to make reproductive decisions based on informed choices. Genetic screening can also help in the timely identification of carriers of BRCA1 or BRCA2 mutations who have a high risk of getting breast and ovarian cancer. Preemptive genetic testing allows them to initiate preventive measures, such as routine checks, lifestyle changes, and even proactive surgical measures in some cases.
Role of Genetic Counselors
While insights from genetic tests are very useful in the healthcare decision-making process, it is crucial to understand the interpretation and application of the results. In addition to the clinicians, and undeniable role of geneticists, there are genetic counsellors who can guide individuals and families through the process, provide information on genetic disorders, help in understanding the associated risks, and provide emotional support enabling them to make well-educated decisions. With the growing accessibility and awareness around the role of genetic tests, the need for genetic counseling is also growing.
As we focus on prioritizing preventive healthcare, genetic testing will remain the game-changer in reducing the burden of inherited diseases and promoting healthy futures.
