Genetic screening can be a game-changer for women’s health, enabling proactive steps in preventing and managing diseases like breast cancer and PCOS.
Dr. Priya Kadam, Director of Reproductive Genomics at MedGenome Labs, sheds light on genetic diseases that disproportionately affect women. From Turner syndrome to muscular dystrophy, Dr. Kadam explains the importance of awareness and testing.
What are the most common genetic diseases that affect women?
Genetic diseases affect both men and women equally, but certain conditions are specific to women due to our chromosomal structure. For instance, Turner syndrome occurs when one X chromosome is missing, affecting only females and impacting fertility. Another condition, Rett syndrome, is a common cause of intellectual disability in girls.
Additionally, women can be carriers of certain disorders, like muscular dystrophy, hemophilia, and cystic fibrosis, due to their two X chromosomes. It’s essential for them to know if they are carriers, as they have a higher risk of passing these conditions to their kids.
How can genetic screening empower women to take proactive steps in preventing and managing diseases like breast cancer and PCOS?
Genetic screening can empower women to take proactive steps in preventing and managing diseases like breast cancer. About a certain percentage of breast cancers are hereditary, so genetic counselling is crucial to understand who needs to be screened. We consider factors like family history and close relatives having cancer. Testing gives a risk assessment, and if a close family member is affected, it increases the risk. With this knowledge, women can improve outcomes by increasing surveillance, getting frequent mammography and testing to detect disease at an early stage.
For PCOS, while there’s no specific gene linked, research suggests a genetic component. Additionally, polygenic risk scores can predict risks for common conditions like hypertension, diabetes, and obesity by testing genes. This is relatively new and applies to both men and women.
Can carrier screening before pregnancy significantly reduce the risk of inherited disorders like hemophilia, and how does it work?
Carrier screening before pregnancy can significantly reduce the risk of inherited disorders like hemophilia. This test examines the genetic makeup of both partners to identify if they are carriers of a common disorder. Individually, carriers won’t show symptoms, but if both partners are carriers, there’s a 25% chance their child will be affected. Carrier screening is recommended for individuals with a family history of genetic disorders, repeated miscarriages, or ultrasound abnormalities.
The test involves taking a blood sample from both parents, extracting DNA, and sequencing it to identify potential variants. If both partners are carriers, prenatal testing or pre-implantation genetic testing can be done to manage the risk.
Pre-implantation genetic testing involves screening embryos created through IVF to identify affected or unaffected embryos, and transferring only the unaffected ones. This can prevent the disorder.
In what ways can precision medicine, tailored to an individual’s genetic profile, transform preventive care and treatment for women’s health?
Precise medicine can transform preventive care and treatment for women’s health. Genetic testing enables early detection and risk assessment, such as for breast cancer. Once the risk is identified, monitoring can be done. Precision medicine offers tailored treatment for individuals. It can even identify which cancers will respond to specific drugs.
Pharmacogenomics, a type of genetic testing, helps understand how individuals process drugs differently. This ensures effective treatment for specific conditions. Precision medicine also includes Non-Invasive Prenatal Testing (NIPT) for chromosomal disorders and specific disorders during pregnancy, though this is still in the screening stage.
What advancements do you see in genetic testing and genomics that will further improve women’s health outcomes in the near future?
Genetic testing and genomics are rapidly advancing, improving women’s health outcomes. Genome sequencing, which took years, now happens in 2-3 days. This advancement enables detection of more disorders. Polygenic risk scores, developed from association studies, predict risks for common disorders like cardiovascular diseases, obesity, and hypertension.
Research is also focused on understanding infertility and miscarriage causes. Preimplantation genetic testing is improving in precision. Additionally, liquid biopsies and tumor profiling are advancing precision medicine, enabling targeted therapies for individuals.
