Recent advancement in diagnostic infrastructure helped discover that genetic factors play an important role in the development of the various diseases. We can now confidently predict the probability of occurrence of various diseases including congenital malformations, thalassemia, Down’s syndrome, cancers, cardiovascular diseases, and neurological diseases.
Understanding the role of genetic science in disease diagnosis and management, Manipal Hospitals, under the leadership and vision of the stalwart of clinical genetics in India Dr Sridevi Hegde, Senior Consultant, Department of Medical Genetics, Manipal Hospital Old Airport Road, established the Department of Medical Genetics in 1998, which is first of its kind in the country. Today, apart from comprehensive genetic diagnostics and interpretation, the department is well-equipped with the team of experts for providing unmatched guidance in disease management and follow-up care.
The cost of setting up a state of the art modern genetic diagnostic lab is enormous; therefore many labs in India are not having all the diagnostic facilities available under one roof. A health seeker has to visit labs in different cities and consult clinicians with expertise in genetics in disease speciality at various geographies for further disease management. We at Manipal Hospitals understood the pain of the care seeker and have invested in the best of the world’s genetic testing and supported infrastructure.
Genetic screening facilities at Manipal Hospital
The genetic department at Manipal hospital old airport road has the facility for clinical genetics and genetic counselling, karyotyping, invasive prenatal diagnosis, and fluorescent in-situ-hybridization. Besides, the department is also equipped to perform biochemical screening, newborn screening, and molecular studies. Facilities for advanced genetic studies such as Chromosomal Microarray, Next Generation Sequencing and Non-Invasive Prenatal Screening are also available at this centre.
Carrier testing, available at Manipal hospital, helps in determining if any of the partners is a carrier of various genetic disorders such as hemoglobinopathies, sickle cell anaemia or thalassemia. Predictive testing predicts the future occurrence of medical conditions such as breast cancer or colorectal cancer in high-risk patients.
Genetics also helps in diagnosis of conditions due to known genetic defects like Haemophilia, Huntington’s disease, cystic fibrosis etc. when a patient presents with symptoms.
Through genetic testing, it has now been possible that clinicians can use the “right drug for the right patient” approach with personalised medicine. Although the personalized medications through genetic testing are in a very nascent stage but are ready to transform the way such diseases are managed.
Genetics helps in evolving Precision Medicine, popularly known as personalised medicine. Every individual has a different genetic make-up and therefore have a varying response to medications. Presently, modern medicine works on the principle of one pill for all, genetic assessment of the patient can help map the most effective medicine suitable in the disease condition.
Medical Genetics department of Manipal Hospital old airport road offers preimplantation testing which is certainly a boon for women who are unable to conceive due to certain genetic abnormalities leading to recurrent spontaneous, early abortions. In such cases, the embryos are screened for genetic abnormalities and the healthy embryos can be implanted in the uterus with an in vitro fertilisation (IVF) technique.
Cancer genetic analysis is also done at Manipal hospital. “There are two types of cancer, sporadic cancer, and familial cancer. The risk of familial cancer increases due to hereditary factors and it is here the genetic analysis plays its part”, says Dr Shetty. “There is a 12% chance of breast cancer in every woman throughout her lifetime and risk increases when there is a family history. Cancer genetics may predict the risk of breast cancer through analysing BRAC 1 and BRAC 2 along with various other genes involved in the development of breast cancer” adds, Dr Shetty while emphasizing the importance of genetics in breast cancer.
“Chromosomal microarray has multiple advantages over conventional karyotyping. With more than 100 times resolution as compared to conventional karyotype, comprehensive analysis of chromosomes can now be possible”, says Dr Mitesh Shetty. “In cases of unclear diagnosis about the disease, the Next Generation Sequencing comes to rescue. This advanced gene sequencing technology had made possible the accelerated management of neurological disorders, cancer, and various inherited disorder” adds Dr Shetty.
Significance of Prenatal & Newborn genetic screening
Prenatal screening determines the probability of the presence of a defect or diagnostic where they confirm the presence of a defect such as Down syndrome and Edwards syndrome and others. Whereas Newborn screening detects the presence of certain developmental, genetic and metabolic abnormalities like phenylketonuria.
The centre also offers the advanced Non-invasive Prenatal screening, a type of DNA test on maternal blood. “The reliability of this screening is 99% and does not pose any significant risk to mother or fetus.
Cases of the children with congenital disorders, pregnancies with a high risk of fetal disorders, bad obstetric history, and developmental delay and autism are generally referred for genetic counselling. This department at Manipal hospital understands the importance and emphasizes on genetic counselling. The experts know that genetic counselling will help the patients and their family members to make informed decisions related to appropriate treatment, genetic testing, and disease predisposition. The genetics department at Manipal Hospital is one of the only few centres in the country where the holistic and comprehensive management for genetic disorders is available.
Genetic services provided at Manipal Hospitals are at par with global standards, thanks to the world-class infrastructure managed by a team of experts and experienced professionals trained nationally and internationally. The department has a talented pool of Bio-informatician, Genetic counsellors, Molecular Biologist, and Cytogeneticists.
“Assessing the future talent requirements in the field, Manipal University had also started a certificate course on Genetic counselling”, says Dr Hegde. “Various other courses are also started at Manipal University which is specifically focused on genetics”.
The department of genetics at Manipal Hospital is striving to provide the best, safe, and affordable genetic diagnosis and treatment with utmost precision and accuracy and technological advancement, contributing consistently since two decades for the betterment of mankind.