Dr. Snehal Mallakmir is a clinical geneticist with a training in laboratory techniques in genetics. She did her diploma in child health from Seth G.S. Medical College and KEM Hospital, Mumbai and was a practicing pediatrician. Later she had a specialized training in laboratory genetics at Bombay hospital, followed by Fellowship in Clinical Genetics from Seth G. S. Medical College, KEM Hospital, Mumbai and also had training in molecular genetic techniques at NIIH, Mumbai.

She worked as Research Associate on National multicentricICMR Project on Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia, also worked as study coordinator on the Phase III multi-centre, multinational, clinical drug trial in Patients with Type 1 Gaucher Disease by Genzyme corporation, UK.As a consultantclinical geneticist, she is associated with Nanavatisuperspeciality hospital and Surya hospital, Mumbai as well as Apollo hospitals, Navi Mumbai. Since last few years, she is consulting patients in genetic speciality from all faculties of medicine from premarital, pre-conceptionalcounseling , prenatal, pediatric, adult medicine to cancer genetics. In clinical practice, genetics has an important role in following situations :–

• Developmental delay

• Regression of milestones

• Congenital malformations/ birth defects

• Dysmorphism

• Chromosomal disorders

• Inborn errors of metabolism

• Newborn screening

• Genetic disorders involving various systems like hemoglobinopathies, neuromuscular disorders, skeletal disorders, cardiac diseases (eg. thalassemia, sickle cell disease, muscular dystrophy, short stature, skeletal dysplasias, metabolic storage disorders etc.)

• Genetic disorders with visual or hearing impairment

• Autism

• Positive family history , previous neonatal/infantile deaths

• Pre-conceptionalcounselling

• Prenatal diagnosis and counseling

• Bad obstetric history

• Disorders of male and female sexual differentiation

• Dealing with ethical, legal and social issues related to medical genetics