A definitive genetic diagnosis is the first step towards precision medicine, say experts

At a recently held webinar, the experts discussed available genetic testing in pediatric endocrinology, their applications, utility, differences and limitations as a part of an initiative to continue the medical education process

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Chennai: 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 initiative 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 include Neonatal Diabetes Mellitus (NDM) especially when diagnosed with the same before 6 months of age, Maturity Onset Diabetes of Young (MODY), ambiguous genitalia and other disorders of sex development, short stature (especially if not attributable to familial traits), childhood obesity, congenital hypothyroidism, lipid metabolism 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 serve to guide treatment decisions (KATP channel genes and sulfonylurea for treatment) as well as predict and monitor 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 practice as multiple endocrine conditions are attributed to gene defects. While biochemical testing 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 technology, testing multiple genes (which may be responsible for a particular clinical symptom) has become easier thus increasing the 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 diagnostics can have on the health of an individual, as well as the population is tremendous. We aim to spread awareness on the subject to both patient and clinician via such virtual seminars. The talk given by Dr. Udhaya, enlighten 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 common as well as rare genetic conditions. She serves as a Consultant in the Genetic department of many hospitals.