A couple of months back, I decided to appear for the INI-SS Medical Genetics exam. I googled for information from people who cleared this exam before to get an orientation about the exam. Unfortunately, I couldn’t find any. However, later I got the contacts of two genetics residents of AIIMS Delhi and PGI Chandigarh and they told me the high-yielding topics which eventually helped me to crack the exam.
Medical Genetics is one such exam in which the candidates need to do a bit of focused preparation to score well. A major chunk of questions come out of Nelson and the aspirants usually find it hard to solve.
Resources I used
Emery’s Elements of Medical Genetics
The major chunk of questions come from Emery and you need to read this textbook from cover to cover. The explanations given in the book are easy to understand and there are mock questions from each chapter at the end of the book. A few questions of INI-SS November 2022 came from the mock questions of Emery and hence you are advised to solve those questions before the exam. Even some pedigree charts-based questions were also taken from this same book.
The pdf version of the 15th edition is available online.
Nelson Textbook of Pediatrics
Nelson is the bible of Pediatrics and we need to know all the verses of our bible. In INI-SS, you need to develop decent knowledge on “General Pediatrics” and for that, you need to read Nelson. Focus more on Neonatology (Teratogens, Dysmorphology, Antenatal diagnosis of diseases), Inborn errors of metabolisms (mucopolysaccharidosis, glycogen storage disorders, sphingolipidosis, organic acidemia, urea cycle defects), and Skeletal dysplasia. Study even the nuances of Down Syndrome, Turner Syndrome, Klinefelter Syndrome, Noonan syndrome, and microdeletion syndromes. While reading other systems, concentrate on the genetics part of diseases. For example, if you are reading nephrology, study in detail the mutations causing congenital nephrotic syndrome. Tables given in the Cardiovascular system describing the genetic association of various syndromes and congenital heart diseases are important.
Indian Journal of Practical Pediatrics (IJPP) – Genetics edition (Jan – Mar 2019)
IJPP releases a nice compilation of articles and case reports once every 3 months. Each release is a storehouse of relevant information and the first edition of 2019 focussed on genetics. It is available online for free.
IAP January 2022 e-newsletter
IAP January 2022 e-newsletter was focussed on various aspects of medical genetics. A few chapters were written by faculties of AIIMS Delhi. This pdf helped me to understand topics like genetic testing, next-generation sequencing, and the genetics of skeletal dysplasia.
One of the major hurdles I faced while preparing was understanding the genetic testing methods. The description given in the standard textbooks is not sufficient to understand Sanger sequencing, MLPA, FISH, Karyotype, CMA, various types of PCRs, etc. Hence, I relied on various YouTube videos to understand such complex procedures.
YouTube videos by various entrance coaching firms were helpful for biostatistics. I saw YT videos of Unacademy and Prepladder for epidemiology and biostatistics. Reporting systems of various study designs are frequently asked (ex: PRISMA, STARD).
Important miscellaneous topics
Enzyme Replacement Therapy
Sustainable Development Goals
Global Nutrition Targets 2025
National guidelines for TB, HIV, Asthma
Practice calculation-based questions
One or two questions involving calculations will be there in the exam and you need to practice those questions. Some questions require only common sense; however, some require the application of Bayes theorem. Never forget to learn the calculations based on the Hardy-Weinberg equilibrium.
Practice pedigree charts
Do let me know if you have any further queries.