Genetic Doctors at Artemis Hospitals, Gurgaon

What is Medical Genetics?

Medical Genetics is a highly specialised field of medicine that focuses on the impact of genes on human health. It enables the diagnosis and treatment of inherited disorders, supports the prevention of certain conditions such as hereditary cancers, and helps reduce the risk of passing genetic conditions to future generations.

Who are Geneticists (Genetics Doctors)?

A genetics doctor, also known as a medical geneticist or clinical geneticist, is a medical professional trained to diagnose, manage, and counsel patients with inherited or genetic conditions. These medical specialists play a critical role in modern medicine, using genetic science to understand the root causes of diseases and offer personalised treatment and prevention strategies.

Geneticists can work with patients of all ages, from newborns to adults, and often collaborate with other specialists to deliver comprehensive care. Whether it’s a rare inherited syndrome, a chromosomal disorder, or a suspected genetic risk for cancer, a genetics doctor in Gurgaon at Artemis Hospitals offers expert evaluation and care.

What are the Different Conditions Treated by Medical Geneticists?

Medical geneticists specialise in diagnosing and managing a wide range of hereditary and congenital conditions. These conditions may result from alterations in genes or chromosomes and can present at any age, right from birth through adulthood. 

Artemis Hospitals has a team of expert genetic specialists who provide comprehensive evaluation and care for various genetic, metabolic, and chromosomal disorders. Early identification and personalised treatment plans can help improve health outcomes and enhance the quality of life for patients. 

Here are some of the major categories of conditions treated by genetic doctors in Gurgaon at Artemis Hospitals:

1. Genetic Disorders and Syndromes

Genetic disorders result from mutations in one or more genes. These mutations can be inherited or occur spontaneously. Some genetic disorders are apparent at birth, while others manifest later in life. A geneticist can help to identify the cause and recommend personalised treatment strategies.

Common conditions include:

• Down Syndrome: This condition is caused by an extra copy of chromosome 21, which leads to intellectual disability, developmental delays, and distinct facial features.
  
  
• Marfan Syndrome: A connective tissue disorder affecting the heart, eyes, and skeleton. Patients often have tall stature, long limbs, and are at risk for heart complications.
  
  
• Cystic Fibrosis: An inherited disorder affecting the lungs and digestive system. Early genetic diagnosis helps in managing lung infections, digestive issues, and improving life expectancy.
  
  
• Duchenne Muscular Dystrophy (DMD): A severe form of muscular dystrophy that primarily affects boys. A genetic pediatric doctor can help in early intervention with physical therapy and targeted medications.
  
  
• Neurofibromatosis: Characterised by benign tumors on nerves, it can lead to skin changes, bone deformities, and learning issues. Genetic testing confirms the diagnosis and helps monitor complications.

2. Inherited Metabolic Disorders

Also known as inborn errors of metabolism, these conditions occur when the body lacks specific enzymes to process nutrients. If left untreated, they can cause serious health issues in infants and children. Pediatric geneticists at Artemis play a key role in diagnosing and managing these disorders.

Common conditions include:

• Phenylketonuria (PKU): A disorder where the body cannot break down phenylalanine, an amino acid found in protein. Untreated, it can lead to brain damage. Early dietary interventions guided by a geneticist can prevent complications.
  
  
• Maple Syrup Urine Disease (MSUD): A rare disorder named for the sweet odour of the urine. It prevents the breakdown of certain amino acids and can lead to neurological damage if not treated promptly.
  
  
• Galactosemia: The body is unable to process galactose, a sugar in milk. Immediate dietary changes can prevent liver damage, infections, and developmental issues.
  
  
• Mitochondrial Disorders: These affect the mitochondria, the energy-producing parts of the cells, causing a wide range of symptoms such as muscle weakness, fatigue, and developmental delays.

3. Chromosomal Abnormalities

These conditions arise due to numerical or structural changes in chromosomes, which can affect growth, development, and reproduction. Medical geneticists use karyotyping and other chromosomal tests to diagnose these abnormalities and guide long-term care.

Notable chromosomal conditions include:

• Turner Syndrome: It affects females and is caused by the complete or partial absence of one X chromosome. It can result in short stature, delayed puberty, and infertility. Hormone therapy and fertility counselling are often part of treatment.
  
  
• Klinefelter Syndrome: A genetic condition affecting males who have an extra X chromosome (XXY). It may lead to low testosterone, male infertility, and learning difficulties.
  
  
• Trisomy 13 and Trisomy 18: These are severe chromosomal disorders with multiple congenital anomalies. While prognosis is limited, genetic counselling helps families make informed decisions and prepare for supportive care.
  
  
• Mosaicism: This condition occurs when a person has two or more genetically different cell lines. This can cause variable symptoms and may go undetected until genetic testing is performed by a clinical geneticist.

4. Rare and Undiagnosed Diseases

Sometimes, patients present with complex symptoms that don’t fit any known condition. These could be signs of rare genetic diseases, often requiring advanced diagnostic tools and multidisciplinary evaluation. Geneticists at Artemis Hospitals excel in these challenging cases.

Conditions may include:

• Primary Immunodeficiencies: These are inherited disorders where the immune system fails to function properly, leading to recurrent infections. Genetic evaluation identifies the underlying cause and guides appropriate therapy.
  
  
• Rare Neurological: Conditions like Rett syndrome or Angelman syndrome affect neurological development. A genetic pediatric doctor helps coordinate therapy, education, and long-term support.
  
  
• Connective Tissue Disorders: Ehlers-Danlos syndrome and related conditions affect joints, skin, and internal organs. Genetic testing assists in confirming diagnosis and planning lifestyle adaptations.
  
  
• Syndromes Without a Name (SWAN): In some cases, despite multiple tests, a diagnosis is elusive. Geneticists use whole exome or genome sequencing to identify novel mutations and potential diagnoses.

What are the Key Roles And Clinical Expertise of a Genetics Doctor?

The role of a geneticist extends far beyond diagnosis. Artemis Hospitals has a team of leading geneticists, genetic counsellors, and clinical geneticists who offer a comprehensive suite of services customised to each patient's unique medical and family history. These services help detect inherited diseases, assess risks, provide personalised treatment strategies, and offer guidance for family planning.

1. Genetic Testing and Screening

Genetic testing is one of the most powerful tools in medical genetics. It helps uncover changes in genes, chromosomes, or proteins that may explain a patient's symptoms or predict future health risks.

How is Genetic Testing Done?

• Sample Collection: Most tests require a blood sample, though saliva, cheek swabs, skin cells, or amniotic fluid (in prenatal cases) may also be used.
  
  
• Laboratory Analysis: The sample is sent to a specialised lab where DNA is extracted and analysed using advanced techniques like PCR, microarrays, or whole-exome sequencing.
  
  
• Interpretation: A genetic specialist doctor interprets the results in the context of the patient’s health and family history.

Significance of Genetic Testing

• Diagnosis: It can confirm or rule out a suspected genetic condition (e.g., cystic fibrosis, Marfan syndrome).
  
  
• Carrier Status: Helps identify if a person carries a gene for a disorder, even if they don’t show symptoms.
  
  
• Risk Assessment: Determines the likelihood of developing conditions such as hereditary cancers.
  
  
• Treatment Planning: Genetic findings can guide therapy decisions, such as targeted drugs in cancer treatment.
  
  
• Reproductive Planning: Couples can make informed choices if there’s a risk of passing a condition to their children.

2. Prenatal and Preconception Counselling (Carrier Screening)

Genetic counselling plays a crucial role before and during pregnancy. It helps prospective parents understand their risks of passing on genetic conditions and allows for early detection of potential issues.

When Is It Recommended?

• If there’s a family history of genetic or chromosomal disorders
• If the couple are carriers of known inherited conditions
• In cases of previous stillbirths, miscarriages, or congenital anomalies
• For women of advanced maternal age (35 years or older)
• Any couple even without a family history can opt for carrier screening to prevent common genetic disorders in their offspring

What Does It Involve?

• Carrier Screening: Evaluates if the parents carry genes linked to conditions like thalassemia or spinal muscular atrophy.
  
  
• Prenatal Genetic Testing: Includes non-invasive prenatal testing (NIPT), chorionic villus sampling (CVS), and amniocentesis to detect chromosomal abnormalities.
  
  
• Preimplantation Genetic Diagnosis (PGD): For couples using IVF, embryos can be tested for genetic conditions before implantation.

Artemis Hospitals’ team of clinical geneticists helps couples make informed reproductive choices with empathy and clinical precision.

3. Cancer Genetics and Risk Assessment

Some cancers are hereditary and result from inherited genetic mutations. Identifying these mutations early allows patients and their families to take preventive action or begin treatment sooner.

Who Should Consider Cancer Genetic Counselling?

• Patients with multiple relatives who have had cancer
• Individuals with early-onset cancers (e.g., breast cancer before age 50)
• Families with known hereditary cancer syndromes like Lynch syndrome or BRCA mutations

What Does This Involve?

• Genetic Risk Evaluation: A geneticist evaluates the patient’s personal and family history to determine if testing is appropriate.
  
  
• Targeted Genetic Testing: Analysis for mutations in high-risk cancer genes such as BRCA1, BRCA2, MLH1, MSH2, and TP53.
  
  
• Preventive Planning: Based on the results, recommendations may include increased surveillance (e.g., earlier mammograms or colonoscopies), lifestyle changes, or prophylactic surgeries.
  
  
• Family Member Screening: If one member tests positive, other relatives can be offered testing and guidance to manage their own risk.

How Does Genetic Testing Guide the Management of Diseases?

Genetic testing plays a crucial role in the early detection, treatment, and prevention of many inherited conditions. Identifying a genetic disorder allows for timely medical intervention. For example, individuals with familial hypercholesterolemia can begin statin therapy early to lower their risk of heart attacks. In high-risk cases, such as BRCA1 or Lynch syndrome carriers, doctors may recommend risk-reducing surgeries to prevent cancers like breast, endometrial or ovarian cancer.

It also supports ongoing care and future planning in several key ways:

• Targeted Therapies: Some treatments, like those for Duchenne muscular dystrophy, are effective only when the specific genetic mutation is known.
  
  
• Family Screening: Helps identify unaffected but at-risk relatives, enabling early monitoring and care.
  
  
• Reproductive Planning: Prenatal testing and preimplantation genetic diagnosis (PGD) can prevent the transmission of inherited conditions to future generations.

When to Consult a Geneticist or Genetic Specialist?

Consult a geneticist in case of the following situations/conditions:

Family History of Genetic Disorders

If a close relative has a genetic condition like thalassemia or cystic fibrosis, other family members may be at risk. A geneticist can assess the inheritance pattern and recommend testing or counselling. Common inherited conditions include:

• Sickle cell anaemia
• Thalassemia
• Huntington’s disease
• Muscular dystrophy

Recurrent Miscarriages or Pregnancy Complications

Multiple pregnancy losses or fetal abnormalities may indicate genetic issues. A geneticist can guide with comprehensive testing and offer options for future family planning. Furthermore, the doctor may recommend medical tests such as:

• Parental karyotyping
• Genetic carrier screening
• Preimplantation genetic diagnosis (PGD) for IVF
• Early intervention and understanding can improve future pregnancy outcomes.

Developmental Delays in Children

Developmental issues such as speech delay, intellectual disability, or autism spectrum disorders may have a genetic basis. Consulting a pediatric geneticist or a genetic pediatric doctor helps uncover the underlying causes and recommend interventions.

Unexplained Health Conditions

For patients experiencing unusual, multisystem symptoms that don’t fit typical diagnoses, a genetic specialist doctor near me may help reveal hidden genetic causes. This approach ensures accurate diagnosis and may open doors to new treatments or clinical trials.

Schedule a Consultation With the Top Genetics Doctors at Artemis Hospitals, Gurgaon

If the patient is experiencing unexplained health issues, has a family history of genetic conditions, or is planning for a healthy pregnancy, consulting a geneticist can offer clarity and direction. Artemis Hospitals, Gurgaon, has a dedicated team of highly trained geneticists, genetic counsellors, and pediatric genetic specialists who work collaboratively to provide comprehensive, personalised care.

With access to cutting-edge genetic testing, advanced diagnostic tools, and compassionate counselling, Artemis Hospitals supports patients at every stage, from diagnosis to long-term management. The hospital is a trusted destination for individuals and families seeking expert guidance and treatment for a wide range of genetic conditions.

Book an Appointment Today!

To schedule a consultation with the best genetics doctor in Gurgaon, call Artemis Hospitals on +91 9800400498. Early genetic evaluation can make a significant impact on diagnosis, management, and overall health outcomes.

Reviewed By Dr. Kanika Singh
Sr. Consultant - Medical Genetics
Artemis Hospitals