Neuberg discusses effective implementation of Genetics in Endocrinology
CHENNAI, July 09, 2020: Neuberg Diagnostics Private Limited, a StartUp in the PathLab chain segment organized a webinar talk by Dr.Udhaya Kotecha, MD Pediatrics, Fellowship in Medical Genetics. Dr. Udhaya Kotecha spoke about “Genetics in Endocrinology”.
The webinar was organized on request by Dr Rahul Reddy, a well known practicing pediatric endocrinologist in Hyderabad. The webinar was a part of a continuing medical education process, wherein the focus was to discuss available genetic testing in pediatric endocrinology, their applications, utility, differences and limitations.
Within pediatric endocrinology, a genetic basis is suspected in patients in many scenarios. A few examples incl ude Neonatal Diabetes Mellitus (NDM) especially when diagnosed with the same before 6 months of age, Matu rity Onset Diabetes of Young (MODY), ambiguous genitalia and other disorders of sex development, short sta ture (especially if not attributable to familial traits), childhood obesity, congenital hypothyroidism, lipid met ab olism defects etc. Traditionally available biochemical testing helps categorize these disorders into a particular subgroup, but genetic testing is required to define the underlying genetic basis. Detected genetic variations ser ve to guide treatment decisions (KATP channel genes and sulfonylurea for treatment) as well as predict and mon itor treatment response (Growth Hormone and PTPN11 mutations). Genetic disorders are associated with a risk of recurrence and hence prenatal testing is often desired. This is possible only when the underlying disorder has been genetically characterized. This also allows testing other related “at-risk” family members.
Dr. Udhaya Kotecha said, “Genetic testing has forayed into pediatric endocrinology pra ctice as multiple endocrine cond itions are attributed to gene defects. While biochemical te sting forms the first line test, an abnormality in the same raises suspicion but does not lead to a definitive diagnosis. With the advent of modern Next Generation Sequencing tech nol ogy, testing multiple genes (which may be responsible for a particular clinical symptom) has become easier thus increasing th e chances of a diagnosis. A definitive genetic diagnosis is the first step towards precision medicine.”
Speaking on the occasion, Aishwarya Vasudevan, COO of Neuberg Diagnostics said, “The impact genetic dia gnostics can have on the health of an individual, as well as the population is tremendous. We aim to spread aw areness on the subject to both patient and clinician via such virtual seminars. The talk given by Dr. Udhaya, enli ghten us on the most recent developments in the field of genetic testing. I hope this has empowered the treating endocrinologist to select the most appropriate test, which will aid them in treating their patient more effectively.”
Dr. Udhaya Kotecha, is quite well known in the medical field and among other medical experts in the country. She has acquired a vast experience of over 14 years in the area of diagnosis and management of various com mon as well as rare genetic conditions. She serves as a Consultant in the Genetic department of many hospitals.
About Neuberg Diagnostics
The best-in-class laboratories from across India, UAE & South Africa have united under the banner of Neuberg Diagnostics to bring the latest technology and techniques within the reach of developing countries. Utilizing th eir combined strengths, the Neuberg alliance brings capabilities to perform over 6000 varieties of Pathologi cal investigations and will promote Prevention & Early Diagnosis, Focused Wellness Programs and Structured Dis ease Management programs for Chronic and Lifestyle Conditions using the most advanced technologies assisted by Data science and AI tools. Today, Neuberg Diagnostics is among the top diagnostics companies of Indian ori gin and the fastest growing healthcare start-up in India. The founding members of the Neuberg consortium – An and Diagnostic Laboratory (Bangalore), Supratech Micropath (Ahmedabad), Ehrlich Laboratory (Chennai), Glo bal Labs (South Africa), and Minerva Diagnostics (Dubai) bring their combined heritage of over 200 years and process over 20 million samples annually. Some of the best Pathologists, Biochemists, Geneticists, Micr obio logi sts and several other Clinical Lab Professionals from around the world are working closely, sharing knowl edge and using the latest generation of diagnostics techniques to take accurate and timely diagnosis to the next level.
