Genomic Medicine at Fortis Hospital, Mohali

The Centre of Excellence in Genomic Medicine at Fortis Hospital, Mohali is a state-of-the-art facility dedicated to advancing precision diagnostics, early disease detection, and personalized treatment strategies using cutting-edge genomic science. Built on Fortis Healthcare’s vision to integrate molecular medicine and genomics into routine clinical care, the Centre offers comprehensive solutions across specialties including oncology, neurology, cardiology, reproductive health, and rare genetic disorders. The Centre of Excellence in Medical Genomics brings the future of medicine to the present, ensuring every diagnosis is data-driven and every treatment is tailored.

Why Medical Genetics? 

Medical genetics is a field of medicine that focuses on diagnosing and managing inherited disorders. It combines genetic science with clinical care to understand how genes contribute to health and disease. This field focuses on diagnosing gene related disorders in neonates, children, adolescents as well as adults, enabling more accurate diagnosis and personalized care.  

  • What We Offer

    1.Benign Genetic Disorders

    • Pre-Conception Genetic Counselling
    • Antenatal Testing to prevent diseases (Down Syndrome etc.) in the upcoming pregnancy
    • Non-Invasive Prenatal Testing (NIPT)
    • Invasive Prenatal testing (Amniocentesis, Chorionic Villus Sampling)
    • Pedigree Analysis
    • Phenotyping and appropriate Genetic testing to identify individuals at higher risk of Sudden Cardiac Death (Cardiac channelopathies)
    • Phenotyping and Appropriate Genetic Testing for Neurological Disorders like Spinocerebellar ataxia, Epilepsy, Muscular Dystrophy etc.
    • Phenotyping and Appropriate Genetic Testing for Pediatric Developmental disorders like Autism, developmental Delay, Intellectual Disability etc.
    • Thalassemia, Sickle cell disease, carrier screening
    • Whole Spectrum of Genetic Testing (Karyotyping, Chromosomal Microarray, Whole Genome Sequencing, Whole Exome Sequencing, Clinical Exome Sequencing etc.)
    •  
    1. Precision Oncology
    • Solid Tumors like Breast, lung, prostrate, colon, pancreas, ovary etc.
    • Risk of inherited cancers (BRCA 1/2, Lynch Syndrome etc.)
    • Minimal Residual Disease by NGS
    • Fusion Gene detection and novel mutation analysis 

  • What is Chorionic Villus Sampling (CVS)?

    Chorionic Villus Sampling (CVS)

    CVS is done early in pregnancy—usually between 10 and 13 weeks.

    • A small sample of tissue is taken from the placenta, which shares the baby's genetic material.
    • The sample is tested for genetic conditions like Down syndrome, thalassemia, or single-gene disorders.

    How is it done?

    • The doctor may insert a thin tube through the cervix (transcervical) or a thin needle through the belly (transabdominal), guided by ultrasound.
    • It is usually done as an outpatient procedure and takes about 20–30 minutes.

    Risks:

    • Small risk of miscarriage (about 0.2%–0.5%).
    • May cause mild cramping or spotting.

  • What is Amniocentesis?

    • Amniocentesis is usually done later in pregnancy, around 15 to 20 weeks.
    • A small amount of amniotic fluid (the fluid around your baby) is taken using a fine needle.
    • The fluid contains cells from the baby, which are tested for chromosome problems, neural tube defects, and other conditions.

    How is it done?

    • The doctor uses an ultrasound to guide a thin needle through the abdomen into the uterus.
    • It usually takes about 15–30 minutes.

    Risks:

    • Small risk of miscarriage (about 0.1%–0.3%).
    • May cause mild pain, cramps, or leaking of fluid (rare).

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FAQs

  • What is Medical Genetics?

    Medical genetics is a field of medicine that focuses on diagnosing and managing inherited disorders. It combines genetic science with clinical care to understand how genes contribute to health and disease.

  • What types of conditions are considered genetic?

    Genetic conditions include single-gene disorders (like beta thalassemia, spinal muscular atrophy (aka SMA), Duchenne muscular atrophy (aka DMD), chromosomal disorders (like Down syndrome, William Syndrome, Di George Syndrome), and multifactorial conditions (like diabetes or heart disease influenced by genes and environment).

  • What is genetic testing?

    Genetic testing involves analyzing DNA to look for changes (mutations) that might cause disease or affect health.

  • Why might someone be referred for genetic testing?

    Reasons include a family history of genetic conditions, repeated miscarriages, abnormal prenatal test results, unexplained developmental delays, a personal/family history of cancer or history of aborted/Sudden deaths in the family.

  • How is genetic testing done?

    Most tests are done on a blood or saliva sample. Specialized tests may also use skin cells or amniotic fluid.

  • Is genetic testing safe?

    Yes. Most genetic tests are non-invasive (blood or saliva), though some prenatal tests like amniocentesis carry a miniscule risk.

  • What does it mean if a condition “runs in the family”?

    It means there may be a hereditary component. Patterns of inheritance—such as dominant, recessive, or X-linked—help determine the likelihood of passing a condition on to children.

  • Can genetic conditions be prevented?

    While most cannot be “prevented” in the traditional sense, early diagnosis and management can greatly improve outcomes. Genetic counselling and screening can help at-risk couples make informed reproductive choices.

  • If no one else in my family has a genetic condition, can I still be a carrier?

    Yes. Many people carry one copy of a genetic mutation without symptoms. Carrier screening can identify such silent risks.

  • What is prenatal genetic screening?

    These are tests done during pregnancy to assess the baby’s risk for certain genetic conditions, like Down syndrome or neural tube defects.

  • What is a genetic evaluation in children?

    It may be recommended if a child has birth defects, developmental delay, autism, or a suspected inherited condition. It includes family history, physical examination, and possibly genetic testing.

  • What is Genetic Counselling?

    Genetic counselling is a communication process that helps individuals understand how genetic conditions might affect them or their families. A genetic counsellor provides support and helps interpret test results.

  • What is Preconception Genetic Counselling?

    Preconception Genetic Counselling deals with several important aspects including Folic Acid supplementation for prevention of Neural tube defects, screening for chromosomal aneuploidies and career screening for prevalent autosomal recessive disorders like beta thalassemia, spinal muscular atrophy, Duchenne muscular atrophy etc.

  • When should patients seek a help of a Medical Geneticist?

    1. Family history of one or more members with Intellectual Disability/developmental Delay/Autism or a birth defect
    2. Family history of one or more members with sudden deaths (death occurring with 1 hour of onset of symptoms)
    3. Family history of one or more members with adult onset health conditions like Young onset (Before 50 years of age) Cardiovascular Disease, Cancer and Neurological Disorders
    4. Pre-Marital Genetic Testing
    5. Couples who have experiences multiple pregnancy losses or babies died in infancy
    6. Couples who are first/second/third cousins or other close blood relatives.
    7. Pregnant Women who ultrasound examinations or blood testing indicates that their pregnancy may be at high risk for genetic disorders
    8. Patients undergoing termination of pregnancy due to abnormality in foetus. By observing a foetus and performing fetal postmortem/autopsy, a medical geneticist can estimate the risk of recurrence in next pregnancy and is able to prevent the same problem in the next pregnancy.

  • What is Precision Oncology?

    Precision oncology is a modern approach to cancer treatment that uses detailed information about a person’s genes, tumor biology, and lifestyle to design personalized treatment plans. Instead of a “one-size-fits-all” method, precision oncology aims to target the unique features of each patient’s cancer

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