Frequently Asked Questions



1. Disease Risk Prediction

Identifies Genetic Predispositions:

• Helps determine the likelihood of developing conditions like cancer, diabetes, cardiovascular diseases, and neurodegenerative disorders (e.g., Alzheimer’s, Parkinson’s).
• Enables early lifestyle changes and preventive measures to reduce risks.

2. Inherited Disorder Detection

Early Diagnosis & Carrier Screening:

• Detects inherited diseases like cystic fibrosis, sickle cell anemia, thalassemia, and Duchenne muscular dystrophy.
• Helps couples understand potential risks of passing genetic conditions to children.
• Genetic testing, particularly whole genome sequencing (WGS), is a powerful tool that provides valuable insights into various aspects of health and disease.
• Consanguinity or the sharing of genetic heritage through marriage between close relatives causes increased risk of genetic (monogenic) disorders. When closely related individuals reproduce, there’s a higher chance that both parents carry the same genetic mutation.

3. Personalized Medicine & Drug Response

Pharmacogenomics:

• Determines how a person’s body will respond to specific medications.
• Prevents adverse drug reactions and ensures effective treatments, particularly in cancer therapy, cardiovascular diseases, and mental health conditions.

4. Rare Disease Diagnosis

Faster & Accurate Diagnosis:

• Many rare diseases (over 7,000 worldwide; 700 in India) are genetic in origin.
• Whole genome sequencing helps diagnose conditions like lysosomal storage disorders, primary immunodeficiencies, and mitochondrial diseases that often go undiagnosed with traditional tests.

5. Cancer Risk & Treatment Guidance

Genetic Markers in Oncology:

• Identifies inherited cancer risks (e.g., BRCA1/BRCA2 for breast and ovarian cancer).
• Helps personalize cancer treatments through targeted therapies (e.g., for lung, colorectal, and leukemia cancers).

6. Cardiovascular Health Insights

Early Detection of Heart Conditions:

• Genetic testing helps identify conditions like hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolemia that increase heart disease risk.

7. Neurological & Mental Health Disorders

Understanding Brain Health:

• Detects genetic markers for schizophrenia, bipolar disorder, depression, autism, and Alzheimer’s disease.
• Helps in early intervention and personalized treatment plans.

8. Nutritional & Metabolic Health

Nutrigenomics & Metabolic Disorders:

• Identifies how genes affect metabolism, food intolerances (e.g., lactose intolerance), and nutrient absorption.
• Helps tailor diet plans for optimal health.

9. Fitness & Wellness Optimization

Exercise & Weight Management:

• Genetic tests reveal how your body responds to exercise, muscle recovery, and weight gain tendencies.
• Helps create personalized fitness and diet plans.

10. Reproductive Health & Fertility

Genetic Screening for Healthy Pregnancy:

• Assists in fertility planning by identifying conditions that could impact conception or pregnancy. Helps in Preimplantation Genetic Diagnosis (PGD).

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Lifestyle diseases that WGS can detect early

Whole genome sequencing (WGS) can help detect genetic predispositions to various lifestyle diseases early, allowing for preventive measures.

1. Cardiovascular Diseases (CVDs)

• Hypertension (High Blood Pressure) – Genes like AGT, ACE, NOS3
• Coronary Artery Disease (CAD) – APOA1, LDLR, PCSK9
• Arrhythmias (Irregular Heartbeat) – SCN5A, KCNQ1

2. Diabetes and Metabolic Disorders

• Type 2 Diabetes (T2D) – TCF7L2, KCNJ11
• Obesity & Metabolic Syndrome – MC4R, FTO, LEP
• Non-Alcoholic Fatty Liver Disease (NAFLD) – PNPLA3, TM6SF2

3. Cancers with Lifestyle Influence

• Lung Cancer – TP53, EGFR
• Colorectal Cancer – MLH1, APC
• Breast & Ovarian Cancer – BRCA1, BRCA2

4. Neurological & Mental Health Disorders

• Alzheimer’s Disease – APOE ε4
• Parkinson’s Disease – LRRK2, GBA
• Depression & Anxiety – SLC6A4, COMT

5. Autoimmune & Inflammatory Diseases

• Rheumatoid Arthritis (RA) – HLA-DR4, PTPN22
• Inflammatory Bowel Disease (IBD) – NOD2, IL23R

6. Bone & Joint Diseases

• Osteoporosis – COL1A1, LRP5
• Gout – SLC2A9, ABCG2

7. Sleep & Respiratory Disorders

• Obstructive Sleep Apnea (OSA) – GPR83, PTER
• Asthma – IL4, ADAM33

How WGS Helps in Lifestyle Disease Prevention

• Identifies high-risk individuals before symptoms appear
• Guides personalized diet, exercise, and medication plans
• Helps in early screening & interventions for diseases like cancer and heart disease