What are Genetics and Genomics in Medicine?

Why is public health genomics gaining attention all over the world?

Efforts of public awareness for common genetic diseases such as thalassemia, down syndrome have been there since long but much needs to be done in view of significant progress in the diagnosis of many diseases in view of availability of advanced tests, recent treatments, preventive measures and management. Recent news of costly therapy for spinal muscular atrophy disease had grabbed attention towards suffering of such patients and families. We now need to know of genetic causes in many diseases not only in pregnancy or small children but also adult diseases like neurological, hematological illnesses and cancers, and infertility.

Genetic diseases, although less common as a single disease, together they form a big psychological, socioeconomic health burden on society which should not be neglected but to be managed as early as possible and if possible, prevented.

These diseases range from severe birth defects detected during pregnancy, congenital diseases detected at birth to diseases detected slowly as child grows which may have severe impact on physical and mental growth of the child and diseases spanning to adulthood. 

Available data indicates a birth defect prevalence of 18.44–23.05 per 1000 births, which translates into 472,177 and 581,899 affected births occurring annually in the country. Estimates of congenital anomaly leading to neonatal mortality range from 54,000 to 99,000. Data from limited studies suggest that 70% of birth defects are non-fatal. The Global Burden of Disease study estimates that developmental disabilities may affect more than 11 million children under the age of five years in India. The magnitude of autism and attention-deficit/hyperactivity disorders, learning disabilities, and other developmental disabilities such as intellectual disabilities, epilepsy, and hearing and vision impairment is also high and many of them may have genetic basis. 

Genomics, the study of our genetic makeup, holds immense potential for revolutionizing disease management in India. Genomics is the study of the total complement of genes (the genome) of an individual and it includes study of function of genes, interaction with each other and with the environment. The field is multidisciplinary and uses a combination of laboratory and bioinformatic techniques to investigate in the context of a particular disease presentation.

Benefits

1. Improved Diagnosis: – Genomics gives precise diagnosis of many genetic diseases and sometimes averts need of invasive tests like tissue biopsy, which often go undiagnosed due to lack of expertise or complexity involved in diagnosis, overlap of symptoms of common diseases etc.

2. Cost benefit- It is usually perceived that the diagnosis of these diseases is costly. But early diagnosis and precise management actually decreases the need of multiple tests, lowers the cost by preventing complications and also provides satisfactory answers to common doubts 

3. Targeted Therapies: Precisely targeted treatments are evolving as we are progressing to achieve accurate diagnosis especially in some childhood diseases as well as some adult diseases like cancers

4. Prevention: – Disease identification leads to early intervention and prevention of complications. Identification of family members if any is possible. Decision making for prevention of recurrence in future pregnancies is possible.

3. Public Health: – Management of childhood defects and disabilities goes a long way in developing community facilities for detection, prevention and special care. Similarly other genetic diseases needing specific treatments need appropriate upgradation and use of public health care. Recent covid pandemic showed importance of genomics of infecting organism in tracing the spread, monitoring of outbreak and development of better public strategies of management. Many such infections can now be tackled with genetic tests. 

We, at Apollo, are committed to giving comprehensive care in all specialties backed by our multidisciplinary team of doctors in various sub-specialties.

“Apollo Genomic Institutes” at Apollo Hospitals, Navi Mumbai gives special emphasis on providing one-point clinical care for all queries of patients regarding diagnosis, management of genetic diseases as well as involving their families. It gives a careful clinical diagnostic as well as counselling approach through various steps.

• Gather and analyze family history – Careful collection of details about medical and genetic conditions within a family to assess potential risks and informed consent
• Explain genetic risks and inheritance patterns: Break down of complex genetic information in an understandable way, clarifying the chances of developing specific conditions.
• Discuss testing options: Explanation of different genetic tests available, their limitations, and what the results could mean (Pretest, post-test counselling)
• Provide educational resources: They offer reliable information about specific genetic conditions, support groups, and relevant organizations.

To know more, book an appointment on 022 6280 6280.

Dr. Rashid Merchant – Senior Consultant Clinical Genetics, Apollo Genomics Institute Navi MumbaiDr. Snehal Mallakmir – Consultant Clinical Geneticist, Apollo Genomics Institute, Navi Mumbai