Apollo Centre for Genomic Medicine
Apollo Center for Genomic Medicine is the best center in Mumbai with the rapid advancement in the Genetic field in recent years, the focus has to be shifted to translate this into real benefits for patients. Many patients affected with genetic diseases or families with such issues need special care.
The facilities of genetic diagnosis and emerging new treatments need to filter down to primary care settings and become part of day-to-day clinical care. These genetic tests require detailed explanations to patients and their families to assist them in interpreting what they mean and making informed decisions.
The humble family history is a powerful tool when undertaken systematically and may uncover unaddressed genetic problems. Patients also seek advice of family physician in case of prepregnancy and pregnancy screening tests, newborn screening, cancer screening, and developmental problems in children. General practitioners are well placed to integrate these special services into care of such patients and long term follow up needed for such families.
At Apollo Center for Genomic Medicine, we offer risk assessment, management and surveillance by our expert genetic providers.
Following are some clinical situations which need consideration of possibility of genetic disease and further management accordingly:
- Advanced maternal age (35 years)
- Developmental delay in children
- Autism, behavioural problems in children
- Multiple pregnancy losses, Still births, and Intrauterine fetal demise
- Previous unexplained early childhood deaths
- Family history of genetic disease
- Multisystemic diseases with genetic etiologies
- Blood disorders like thalassemia, sickle cell anemia etc.
- Neuromuscular diseases
- Neurological disorders
- Orthopedic conditions like skeletal dysplasia, achondroplasia, osteogenesis imperfecta etc.
- Visual and hearing defects
- Unexplained organomegaly
- Birth defects, dysmorphism, and congenital anomalies
- Chromosomal syndromes
- Abnormal genitalia
- Inborn errors of metabolism
- Abnormal newborn screening report
Sometimes diagnostic work flow includes specialised testing along with genetic tests. It requires careful interpretation as well as specialised care depending on the diagnosis and severity.
With availability of various special diagnostic tests and developing treatment modalities, we can address problems of patients and their family members in better manner.