Dr. Snehal Mallakmir
Clinical Geneticst
Nanavati Super Speciality
Hospital, Mumbai

Dr. Ami Shah
Clinical Geneticst
Nanavati Super Speciality
Hospital, Mumbai

Genetics is at the forefront of medicine with a wide spectrum right from Foetal Medicine, Perinatology, Paediatrics, Adult Medicine to Oncology.

Even as we realise the importance of these advances, their applications to patient care have been limited by lack of awareness, cost and unavailability of this facility in hospitals. Realising the need to address these gaps, the clinic will address queries related to genetic disorders, focussing on evaluation and management of patients, tailored to clinical presentation and care. It also intends to take further, the care of thalassemia patients and their families to betterment through genetic diagnosis and management aided by new facility of Bone Marrow Transplant.

Working with genetic patients requires a multidisciplinary approach which includes confirmation of diagnosis, management of patients in the light of prognosis, involvement of family members, counselling, rehabilitation. Cytogenetics (study of chromosomes), Biochemical genetics (study of metabolic defects, enzyme deficiencies), Molecular genetics (study of genetic diseases with DNA mutations, epigenetics etc.) are some of the specialities. The clinical presentation of a genetic disease varies from severe congenital malformations, metabolic diseases from mild to moderate presentations which could well span to teenage and adulthood. As we gather more evidence, genetic basis of diseases involving Neurology, Oncology, Cardiology, Endocrinology, Skeletal Dysplasias, Neuropsychiatry and Dermatology is becoming clear.

Recently, therapies have emerged for some disorders but many therapies for complete cure are still being evaluated like stem cells, gene therapy which may change complete outlook towards therapeutics in medicine. Currently, genetic evaluation needs careful application of diagnostics to clinical presentation. It helps in preventive medicine as in prenatal, preimplantation diagnosis as well as predicting risk to family. Genetic counselling involves a process of providing information about disease and its management, testing, risk to family members in non-directive manner.