As genetic basis of diseases become more sophisticated, we now understand that genes have an influence on the overall health and well-being of not only ours but our future generations as well.?
For couples embarking on the journey of parenthood, genetic carrier screening test has emerged as a valuable tool for proactive healthcare and informed decision-making.?This innovative test analyses an individual's genetic makeup to identify potential carriers of inherited disorders even if they do not show any symptoms themselves.?
To get an understanding of why carrier screening is essential, we need to look at the carrier status of some common genetic conditions in general population. The carrier frequency of Sickle Cell Anaemia is 2-20%, Thalassemia is 3-4%, Spinal Muscular Atrophy 1 in 35 to 1 in 70, Cystic fibrosis 1 in 35 to 1 in 100, Fragile-x syndrome 1 in 250 (among females), Familial hypercholesterolemia 1 in 200 to 1 in 300 and Chromosomal abnormality 1 in 400.
Genetic carrier screening provides couples with crucial information about their risk of passing on genetic disorders to their offspring. By identifying if both partners are carriers of the same genetic condition, couples can make informed choices about their reproductive options. This includes exploring assisted reproductive technologies or exploring prenatal testing and counselling.
Carrier screening raises awareness about the prevalence and potential impact of inherited conditions. It empowers individuals and couples to understand the risks associated with their genetic makeup, enabling them to make proactive decisions and manage their reproductive health by seeking appropriate medical guidance. By knowing their carrier status, individuals can take steps to prevent or manage the potential impact of genetic disorders being passed on to their children.
Identifying carrier status through screening creates opportunities for early intervention and personalized medical management. In some cases, preventive measures can be taken, such as preimplantation genetic diagnosis (PGD) or prenatal testing, to reduce the risk of passing on genetic conditions. Additionally, it enables healthcare providers to provide tailored care and support to individuals and families affected by these conditions.?
Genetic carrier screening provides couples with a platform to emotionally prepare for the potential challenges associated with having a child with a genetic disorder. Beyond the scientific aspect, it facilitates education, counselling, and emotional support, aiding couples in navigating the complex decisions intertwined with starting a family. Additionally, the emotional preparedness can significantly impact couples' ability to cope with potential challenges and make informed decisions that align with their values and beliefs.
Genetic carrier screening empowers couples to take control of their reproductive health and make informed decisions about planning their family, reproductive options, and medical interventions. This knowledge and awareness empower couples to take proactive steps toward ensuring the health and well-being of their future generation.
About the Author:?Dr Anup Rawool is the Associate Director, Medical Genetics and Head, Scientific and Medical Affairs, MedGenome. All views/opinions expressed in the article are of the author.