Genetic screening can have a huge impact on health outcomes for women

Dr Mokshadayini S., Consultant, MedGenome Labs explains that with genomics one can detect a disease long before the symptoms start showing up and highlights some examples, which explains why one should opt for genomic testing

Women, wear multiple hats while striving to do the best in their lives and profession, many times at the cost of their own health. According to the National Family Health Survey (NFHS) 2019-2021 chronic non-communicable diseases (NCDs) are the major cause of women’s death in the country. Some of these disorders may be genetic in nature. With proper awareness about these disorders and genetic testing, can be helpful to find causes of their symptoms and help manage their own and reproductive health better. Genetic testing is a boon to diagnose, monitor, treat, predict, and prevent disease, as well as promote overall health in individuals. Early diagnosis of a disease can significantly increase the chances of successful treatment. With genomics one can detect a disease long before the symptoms start showing up. Here are some examples, which explains why one should opt for genomic testing.

Hemophilia is an inherited bleeding disorder in which the blood does not clot properly and is caused by a mutation or change in the gene of either clotting factor VIII or factor IX. These genes are located on the X chromosome. Hemophilia A affects 1 in 5,000 male births and approximately 400 babies are born with hemophilia each year. Hemophilia can result in bleeding within joints that can lead to chronic joint disease and pain; bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis. Females are usually carriers and males will be affected if they inherit affected X chromosome from carrier mother. Birth of hemophilic child can be prevented by doing prenatal genetic testing in carrier females in their pregnancy and further manage the pregnancy based on the results. However, the purpose of carrier testing is not to discourage having children, but rather to promote better health for the mother and the child.

Familial breast cancer comprises approximately 20 per cent to 30 per cent of all breast cancers. BRCA1 and BRCA2 are two major genes associated with hereditary breast and ovarian cancer syndrome. Approximately 7 percent of breast cancer and 15 percent of ovarian cancer cases are caused by harmful variants in the BRCA1 and BRCA2 genes. Women, who have inherited mutations in BRCA 1 and BRCA 2 tend to develop breast and ovarian cancers at younger ages than people who do not have these mutations. BRCA gene test is a blood test that helps in assessing the risk of developing cancer by looking for potentially harmful variants in BRCA1 and BRCA2 genes in individuals with a family history of breast cancer, ovarian cancer (1st, 2nd, or 3rd degree relative in either lineage). Early information and awareness by genomic testing of BRCA genes in women who have a family history of breast cancer aids in periodic and closer surveillance and potentially early detection and its associated benefits. Additionally, it prevents the adverse consequences of advanced cancer.

Fragile X syndrome (FXS) is the most common inherited single-gene cause of intellectual disability and autism spectrum disorder (ASD). It is caused by a mutation on the X chromosome in the FMR1 gene, typically due to the expansion of the CGG triplet repeat, resulting in disruption of the fragile X mental retardation protein (FMRP). Whilst, up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear. FXS presents as primary ovarian insufficiency in females, and the diagnosis can be made early by genetic testing.

The overall percentage for consanguineous marriages in India is 14.4 per cent according to NFHS-1 with the highest prevalence being in the southern region (25.7 per cent). Many studies have demonstrated that consanguineous marriages are associated with higher risk of autosomal recessive diseases and congenital malformations, mental retardation, higher pre-reproductive deaths, low birth weight and higher post-natal mortality among offspring. By doing carrier screening in couples with history of birth of malformed baby and PGT-M can aid in birth of normal babies.

Delayed diagnosis results in serious consequences for patients and healthcare professionals and can incur substantial financial costs. Research focusing on cancer suggests that a late diagnosis leads to increased morbidity and mortality. Patients who experience a delay in diagnosis also have a higher number of consultations and medical tests. They are more likely to experience substandard quality care and psychological trauma among both patients and family members. Genomic testing in certain settings can aid in early detection to prevent and manage more severe forms of a disease.




BRCA mutationchromosomesGeneticsgenomics test
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