The webinar was part of continuing medical education process, wherein focus was to discuss available genetic testing in paediatric endocrinology, their applications, utility, differences, limitations
Neuberg Diagnostics organised a webinar talk by Dr Udhaya Kotecha, Clinical Geneticist, Neuberg Centre for Genomic medicine. Dr Kotecha spoke about ‘Genetics in Endocrinology.’
The webinar was organised on request by Dr Rahul Reddy, Paediatric Endocrinologist, Ankura Hospital, Hyderabad. The webinar was a part of a continuing medical education process, wherein the focus was to discuss available genetic testing in paediatric endocrinology, their applications, utility, differences and limitations.
Within paediatric 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 six 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 categorise 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 characterised. This also allows testing other related ‘at-risk’ family members.
Dr Kotecha said, “Genetic testing has forayed into paediatric 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, 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 Kotecha, enlightens 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.”
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