Dr. Snehal Mallakmir
Clinical Geneticst
Nanavati Super Speciality
Hospital, Mumbai
Dr. Ami Shah
Clinical Geneticst
Nanavati Super Speciality
Hospital, Mumbai
Bridging gaps between scientific advances and clinical care
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.