Medical genetics is a rapidly advancing field of medicine that focuses on how our genes influence health. This specialty plays a vital role in diagnosing, treating, and preventing genetic conditions that affect individuals and families. From infertility and recurrent miscarriages to hereditary cancers and neurological conditions, medical genetics offers solutions that can transform lives.
Couples struggling with infertility or recurrent miscarriages often find answers through genetic testing. Chromosomal abnormalities or specific genetic conditions are common causes of such challenges. For example, a couple who experienced multiple miscarriages discovered a chromosomal issue in one partner through genetic testing. With the help of genetic consultation with Medical Geneticist and genetic counseling, they chose in-vitro fertilization (IVF) with preimplantation genetic testing (PGT), ultimately leading to a successful pregnancy.
Hereditary cancers, such as breast, ovarian, or colon cancer, are often caused by inherited mutations like BRCA1 and BRCA2. Early identification of these mutations can significantly reduce cancer risk through preventive measures. Angelina Jolie famously brought attention to this by undergoing preventive surgeries after testing positive for a BRCA mutation, reducing her risk of breast and ovarian cancer. Additionally, genetic testing for individuals diagnosed with cancer can guide personalized treatments, ensuring better outcomes tailored to their cancer genetic profile.
Neurological conditions like autism and epilepsy also benefit from genetic insights. While these disorders are complex, genetic testing can identify underlying causes, helping families access targeted therapies and plan for the future management and pregnancy in individuals at risk. For instance, a child diagnosed with autism was found to have a rare genetic syndrome through testing, which enabled the family to pursue specialized treatments and care strategies. In the next pregnancy the risk of recurrence was 25%, the couple opted for prenatal diagnosis by Genetic testing on Amniotic fluid sample obtained by Amniocentesis. The fetus wasn’t affected and the couple took n formed decision to continue the pregnancy to have a healthy baby.
Medical genetics is also invaluable for couples planning their families. Premarital, preconception, and prenatal genetic testing can identify carriers of conditions like thalassemia or sickle cell disease, allowing informed decision-making. For example, a couple discovered they were both carriers of sickle cell disease and, with genetic counseling, opted for IVF with PGD to ensure their child would not inherit the condition. Prenatal testing, such as non-invasive prenatal testing (NIPT), further allows early detection of chromosomal abnormalities like Down syndrome, giving parents time to prepare.
At NeoWoman’s Clinic, we provide comprehensive genetic services, including testing, Medical Geneticist consultations, and Genetic counseling. Our expert team led by Dr Anup Rawool, DM Medical Geneticist, addresses a wide range of concerns, such as infertility, recurrent miscarriages, hereditary cancers, autism, developmental delays, epilepsy, neurodegenerative, Neuro-developmental conditions and pre-pregnancy planning. We aim to empower individuals and families with personalized solutions based on their unique genetic makeup.
Medical genetics is no longer a niche science—it’s a powerful tool that can change lives. Whether you’re seeking answers to unexplained health issues or planning for a healthier future, genetics offers clarity and hope. At NeoWoman’s Clinic, we simplify genetics to help you make informed choices for yourself and your family. Let genetics guide you toward a healthier tomorrow.
- Anup RawoolDM (Medical Genetics), MD (General Medicine)MBA (Hosp Admin), PGDGM, PGDHHM, MBBS, CCMGConsultant Clinical & Cancer Geneticist
