Genetics and the Silent Burden of Non-Communicable Diseases

Non-communicable diseases (NCDs)—including cancers, diabetes, cardiovascular diseases, kidney disorders, and chronic lung and liver conditions—are not caused by infectious agents. These diseases often develop gradually over time, earning the label “chronic.” Increasingly, research shows that genetic information plays a significant role in both the development and progression of NCDs.

Genetic involvement in NCDs can be categorized as either primary or secondary. Secondary involvement refers to how chronic disease progression may influence gene expression or function. Primary involvement, on the other hand, occurs when genetic mutations directly initiate or predispose individuals to disease.

Cancer

In cancer, genetic testing is now routine for identifying hereditary syndromes. Genes associated with:

• Lynch syndrome: MLH1, MSH2, MSH6, PMS2, EPCAM
• Hereditary Breast and Ovarian Cancer: BRCA1, BRCA2
• Cowden syndrome: PTEN
• VHL syndrome: VHL

Targeted therapies and immunotherapies increasingly rely on genetic profiling before treatment begins.

Cardiovascular Diseases

Cardiovascular conditions also show strong genetic links:

• Familial Hypercholesterolemia (FH): Mutations in LDLR, APOB, PCSK9, ApoE
• Heart Failure (HCM & DCM): Genes like MYH7, TNNT2, TNNI3
• Congenital Heart Disease (CHD): Over 400 implicated genes

Diabetes

Type 1 Diabetes: Linked to autoimmune-related genes like HLA-DQA1, HLA-DQB1, HLA-DRB1.

Type 2 Diabetes: Involves multiple genes affecting insulin resistance and beta-cell function.

Lung Diseases

Lung conditions like:

• Cystic Fibrosis: CFTR gene
• Idiopathic Pulmonary Fibrosis: Genes like ASPN, CDH2, COL1A1, COL1A2, COL3A1, CTSK, MMP1, MMP7, POSTN, SPP1

Integrating genetic insights into disease management is no longer optional—it’s essential.