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  • Genetic Testing for Women: Understanding Disease Risks And The Screening Tests Available Across Ages

    Published on March 12, 2024

     Dr Sandhya Nair, Lead Genome Analyst, MedGenome

    As we commemorate International Women’s Day this year, let’s also reflect on the often-overlooked aspect of healthcare: preventive measures for maintaining well-being. It’s an opportunity to highlight the intersection between celebrating women’s achievements and prioritizing their health. Ensuring women’s well-being involves not only acknowledging their accomplishments but also emphasizing the importance of early screening measures to safeguard their health. With this foundation, let’s explore how genetic testing provides invaluable insights into women’s health, offering critical information about disease risks at different stages of life. From chronic conditions to lifestyle diseases and reproductive concerns, genetic testing stands as a powerful tool to empower women aged 16 to 60.

    Cancer Screening (Age 16-25):

    In India, there are 511.4 million women aged 15 years and older who are at a risk of developing cervical cancer. Annually, approximately 123,907 women are diagnosed with the disease, resulting in 77,348 deaths. Cervical cancer stands as the second most common cancer among Indian women in the age group of 15 to 44 years. About 5.0% of women in the general population carry cervical HPV-16/18 infection at any given time, with 83.2% of invasive cervical cancers attributed to HPVs 16 or 18.

    Nearly all cases are caused by HPV infection which makes screening vital for women aged 16 to 25 Screening targets the young age bracket where early intervention can make a significant difference. By detecting HPV early, healthcare providers can take prompt action to prevent the progression to cervical cancer. Moreover, HPV screening empowers young women to make informed health decisions and encourages proactive healthcare practices. Integrating HPV screening with vaccination programs further enhances its impact on cervical cancer prevention, contributing to the global efforts to eliminate this disease. About 3% of breast cancers (about 7,500 women per year) and 10% of ovarian cancers (about 2,000 women per year) result from inherited mutations in the BRCA1 and BRCA2 genes.  Incorporating genetic testing for these mutations into cancer screening programs enhances early detection efforts and enables personalized risk assessment and management strategies, further strengthening the fight against cancer.

    Carrier Screening for Genetic Conditions (Age 18-40):

    Carrier screening in young women assesses the risk of passing on genetic conditions to their offspring. Testing for conditions like Duchenne Muscular Dystrophy, Hemophilia, Cystic fibrosis, Thalassemia, and Sickle cell anaemia helps couples to take informed family planning decisions. In addition to carrier screening, advanced prenatal screening methods like Non-Invasive Prenatal Testing (NIPT) during pregnancy provide accurate genetic information with respect to the risk of chromosomal abnormalities in the foetus giving reassurance to expecting parents and helping early intervention where possible. 

    Preimplantation genetic screening (PGS/PGT) (Age 20-40):

    Assisted reproductive technology IVF (In vitro fertilisation) has offered hope to couples struggling to conceive. Breakthroughs in genetic testing, are further saving precious time and money, as well as physical and emotional strain during the multiple IVF attempts.  Preimplantation Genetic Screening test (PGT) is one such innovation in the field that is available for women in their journey to conception. PGT allows for the examination of embryos created through in vitro fertilization (IVF) for specific genetic conditions before implantation, reducing the likelihood of passing on inherited disorders, ensuring healthy pregnancy and a healthy child. PGT is associated with improved success rates and lower risk of miscarriage. By diagnosing genetic conditions early, healthcare providers can develop personalized treatment plans and provide guidance for family planning.

    RhD Screening (Age 20-40):

    RhD screening in expecting mothers aims to detect Rh factor incompatibility between the mother and fetus, which can lead to miscarriage or pregnancy complications. By identifying RhD-negative mothers early in pregnancy, healthcare providers can administer Rh immunoglobulin to prevent adverse outcomes and ensure that both the mother and baby are healthy. This screening is essential for safeguarding pregnancies and reducing the risk of miscarriage due to Rh factor incompatibility, highlighting the importance of comprehensive prenatal care for expectant mothers.

    Non-Communicable Disease Screening (NCDs) (Age 18-60):

    Genetic screening tests can be done by individuals to assess the genetic risk of developing NCDs such as diabetes, hypertension, coronary artery disease (CAD), Parkinson’s, Alzheimer’s, hereditary cancer, obesity etc. before your body shows any clinical symptoms. This risk when combined with other risk factors can guide early medical intervention. The high, moderate and average risk scores provide assessment of disease risk rather than a definitive diagnosis which can empower women to make informed lifestyle choices, undergo routine check-ups and adopt early intervention strategies to mitigate disease progression.

    Lastly, genetic consultation with a healthcare professional or a genetic counsellor is essential to determine the most appropriate screening test based on individual health, family history, and lifestyle. Genomics-led health insights will help women and girls make informed decisions about their health, thus inspiring inclusion and promoting proactive health management.

    Understanding disease risks through genetic testing can help women take proactive steps to safeguard their health across the different stages of life. Consultation with a healthcare professional or a genetic counsellor is essential to determine the most appropriate screening test based on individual health, family history, , and lifestyle. Genomics led health insights will help women and girls make informed decisions about their health thus inspiring inclusion.


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