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DM Superspecialty · Book Guide

Books for DM Medical Genetics.

The NMC curriculum list, reproduced exactly, plus the editions residents actually read in 2026 — with journals, a year-wise reading plan, and the references you will need for your thesis and exit practical.

20Titles on the NMC list
9Current-edition picks
1Journals listed
3 yearsReading plan included

Sitting the DrNB instead? The same superspecialty is covered at DrNB Medical Genetics books.

Official list

Books the NMC curriculum lists for DM Medical Genetics

These 20 titles are reproduced as they appear in the National Medical Commission curriculum document for Medical Genetics — spelling and abbreviations included. Treat it as the scope anchor, not as a shopping list.

  1. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Editors: Reed Pyeritz, Bruce Korf, Wayne Grody. Elsevier. 6th Edn. 2013.
  2. Practical Genetic Counseling. Editors: Peter Harper. Edward Arnold Ltd. 3rd Edn. 2013.
  3. Smith's Recognizable Pattern of Human Malformations. Editor: Kenneth Lyon Nenes. WB Saunders Company. 7th Edn. 2013.
  4. Mendelian Inheritance in Man. Editor: Victor A Mckusick. The Johns Hopkins University Press. 2014.
  5. Metabolic and Molecular Basis of Inherited Disease. Editors: Charles R. Scriver, Arthur L. Beaudet, William S. Sly, David Valle. McGraw-Hill. 8th Edn. 2001.
  6. The Principles of Clinical Cytogenetics. Editors: SL Gersen, MB Keagle. Humana Press. 3rd Edn. 2013.
  7. Textbook of Fetal and Perinatal Pathology, Vol. I & II. Editors: Jonathan S Wigglesworth, Don B Singh. Wiley–Blackwell. 2nd Edn. 1998.
  8. Catalog of Teratogenic Agents. Editor: TS Shepard. John Hopkins University Press. 13th Edn. 2011.
  9. Emery's Elements of Medical Genetics. Editors: Peter Turnpenny, Sian Ellard. Elsevier Churchill Livingston. 15th Edn. 2017.
  10. The Practical Guide to the Genetic Family History. Editor: Bennett Robin. Wiley-Liss. 1st Edn. 2010.
  11. Chromosomal Abnormalities and Genetic Counseling. Editors: RjJM Gardner, GR Sutherland. Oxford University Press. 5th Edn. 2018.
  12. Medical Cytogenetics. Editor: Mark Hon Fong L. CRC Press. 1st Edn. 2000.
  13. Congenital Malformation Evidence-Based Evaluation and Management. Editors: Pravin Kumar, Barbara K Burton. McGraw Hill. 1st Edn. 2007.
  14. Human Molecular Genetics. Editors: Tom Strachan, Andrew Read. Garland Science. 5th Edn. 2018.
  15. Genetic Disorders and the Foetus: Diagnosis, Prevention and Treatment. Editor: Aubrey Milunsky. Wiley. 7th Edn. 2015.
  16. Management of Genetic Syndromes. Editors: Cassidy SB, Allanson JE. Wiley Liss. 4th Edn. 2020.
  17. Essentials of Medical Genomics. Editor: Brown Stuart M. Wiley-Liss. 1st Edn. 2008.
  18. New Clinical Genetics. Editors: Andrew Read, Dian Donnai. Scion Publishing. 4th Edn. 2020.
  19. Human Malformations and Related Anomalies. Editors: Stevenson RE, Hall JG. Oxford University Press. 3rd Edn. 2015.
  20. Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. Editors: Taybi H, Lachman RS. Elsevier. 5th Edn. 2006.
Read this before you buy. Curriculum documents are revised infrequently, so several entries name editions that are now years out of date and a few titles are out of print. Use the list to understand what you are expected to have covered, then buy the current edition from the next section.

Source: National Medical Commission curriculum document for Medical Genetics

What residents actually use

Current editions, and what each one is for

The books most residents actually buy. These are the editions in circulation now, with a note on whether each is something you read through, keep as a reference, or open only for the viva.

  1. Emery and Rimoin's Principles and Practice of Medical Genetics and GenomicsPyeritz, Korf, Grody (eds) · 7th edition · core referenceThe comprehensive reference; the current edition is a multi-volume set organised by theme.
  2. Emery's Elements of Medical Genetics and GenomicsTurnpenny, Ellard, Cleaver · 16th edition · foundational textThe readable first pass through the discipline; NMC lists the 15th edition.
  3. Smith's Recognizable Patterns of Human MalformationJones, Jones, Del Campo · 8th edition · dysmorphology coreThe dysmorphology bible and the basis of the syndrome-recognition station.
  4. Human Molecular GeneticsStrachan, Read · 5th edition · molecular foundationNMC-listed; underpins the basic-sciences theory paper on genome structure and variation.
  5. Gardner and Sutherland's Chromosome Abnormalities and Genetic CounselingGardner, Amor · 5th edition · cytogenetics and counsellingThe reference for recurrence risk counselling around structural rearrangements.
  6. The Principles of Clinical Cytogenetics / The AGT Cytogenetics Laboratory ManualGersen, Keagle (eds) / Arsham, Barch, Lawce (eds) · laboratory referenceFor karyotype, FISH and microarray interpretation at the bench.
  7. Inborn Metabolic Diseases: Diagnosis and TreatmentSaudubray, Baumgartner, García-Cazorla, Walter (eds) · 7th edition · metabolic coreThe practical successor to the NMC-listed Scriver for acute and chronic IEM management.
  8. Management of Genetic SyndromesCassidy, Allanson (eds) · 4th edition · management referenceNMC-listed; the standard source for syndrome-specific surveillance protocols.
  9. ACMG/AMP variant interpretation standards and ACMG secondary findings recommendations (current)American College of Medical Genetics and Genomics / Association for Molecular Pathology · guideline setVariant classification by ACMG criteria is a directly examined practical skill; used with ClinGen, OMIM, gnomAD and ClinVar.
Journals

Journals that matter in Medical Genetics

Journal club and the recent-advances parts of the theory paper come from here. You do not need all of them — follow one Indian and two international titles properly.

10-15 international Journals and 02-05 national (all indexed) journals
Reading plan

What to read, and when

Three years of superspecialty training goes faster than it sounds, and most of it is spent on the floor. The order below is what works for most DM Medical Genetics residents.

Year 1

Build the base

Read Emery's Elements and Strachan and Read to build the molecular and clinical foundation, then start Smith's Recognizable Patterns as a daily reference in the genetics clinic. Learn pedigree drawing and risk calculation cold; register the thesis protocol.

Year 2

Go deep, collect thesis data

Work through Emery and Rimoin by theme, Saudubray during the metabolic postings, and Gersen/AGT plus ACMG standards at the laboratory bench. Build a personal syndrome photo log; collect thesis data.

Year 3

Revise, drill, submit

Revise Smith's and Cassidy's Management of Genetic Syndromes, practise ACMG variant classification on real cases weekly, and rehearse counselling role-plays and cytogenetic/molecular stations. Submit the thesis.

Thesis

References for your thesis

Protocol, methodology and reporting standards examiners expect you to have followed.

  • Indian Journal of Medical Research and the Indian Journal of Human Genetics for Indian mutation spectra and founder variants
  • GenomeAsia 100K and IndiGen population datasets for Indian allele frequencies
  • American Journal of Human Genetics, Genetics in Medicine, Journal of Medical Genetics, European Journal of Human Genetics
  • ACMG/AMP 2015 variant interpretation framework and current ClinGen specifications for classification methodology
  • ICMR National Ethical Guidelines (2017) plus the Pre-Conception and Pre-Natal Diagnostic Techniques (PCPNDT) Act for prenatal work
Practical & viva

What the practical actually tests

Cases, spotters and stations that come up again and again in the exit exam.

  • Long case: a child or family with a suspected genetic syndrome requiring pedigree, dysmorphology assessment, diagnostic plan and counselling
  • Short cases: dysmorphic features, skeletal dysplasia, neuromuscular and neurodevelopmental disorders, inborn errors of metabolism
  • Pedigree construction and recurrence risk calculation including Bayesian problems
  • Cytogenetics station: karyotype reading, ISCN nomenclature, FISH and chromosomal microarray interpretation
  • Molecular station: Sanger and NGS data, ACMG variant classification, database interrogation
  • Biochemical genetics station: tandem mass spectrometry, GC-MS urine organic acids, enzyme assay reports
  • Genetic counselling role-play including prenatal diagnosis, PCPNDT compliance and ethical discussion
About the course

DM Medical Genetics in context

DM Medical Genetics is a three-year course after MD/DNB in Paediatrics, General Medicine, Obstetrics and Gynaecology, Biochemistry or Pathology depending on the institution. The NMC guidelines follow the standard PG pattern of four theory papers of 100 marks each with clinical, practical and viva voce, and thesis acceptance is a prerequisite. The practical is unusual in combining clinical dysmorphology cases with laboratory stations in cytogenetics, molecular genetics and biochemical genetics, plus a formal genetic counselling assessment.

Frequently asked

DM Medical Genetics books — questions

Which books does the NMC curriculum list for DM Medical Genetics?

The National Medical Commission curriculum for Medical Genetics lists 20 titles, beginning with Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Editors: Reed Pyeritz, Bruce Korf, Wayne Grody. Elsevier. 6th Edn. 2013.. The full list is reproduced on this page exactly as it is published.

Which single book should I start with in DM Medical Genetics?

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by Pyeritz, Korf, Grody (eds) is the usual anchor. The comprehensive reference; the current edition is a multi-volume set organised by theme.

How is DM Medical Genetics different from the DNB or MD version?

DM Medical Genetics is a superspecialty course taken after a broad-specialty MD, MS or DNB, so the reading is narrower and deeper. The broad-specialty texts are assumed knowledge by the time you start.

Do I need to buy every book listed?

No. Most residents own two or three and use the department or library copy for the rest. That is exactly why printing selected chapters from a PDF works out cheaper than buying volumes you will open twice.

Can you print these books for me?

We print from the PDF you send us. Send the file on WhatsApp with your page count and whether you want colour, black and white or mixed, and we print, bind and deliver anywhere in India. We do not supply copyrighted book files.

How much does printing cost?

Black and white is 50 paise a page, colour is Rs 1 a page, and binding is Rs 40 per bound volume. A 400-page mixed set with binding usually works out around Rs 300 plus delivery.

Printing your DM Medical Genetics reading?

Send the PDF on WhatsApp — colour Rs 1/page, B&W 50p/page, binding Rs 40. Printed, bound and delivered anywhere in India.

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