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DrNB Superspecialty · Book Guide

Books for DrNB Medical Genetics.

The NBE 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.

19Titles on the NBE list
9Current-edition picks
26Journals listed
3 yearsReading plan included

Doing the DM instead? The same superspecialty is covered at DM Medical Genetics books.

Official list

Books the NBE curriculum lists for DrNB Medical Genetics

These 19 titles are reproduced as they appear in the National Board of Examinations curriculum document for Medical Genetics — spelling and abbreviations included. Treat it as the scope anchor, not as a shopping list.

  1. Alberts B, Johnson A, Lewis J, Morgan D, Roberts K, Walter P. Molecular Biology of the Cell. 6th ed. 2014. Garland.
  2. Blau N, Duran M, Gibson KM (Eds). Laboratory Guide to the Methods in Biochemical Genetics. 2008. Springer Online (accessed November 2012). ISBN 9783540766988
  3. Harper P: Practical Genetic Counselling, (7th edition 2010). Oxford University Press
  4. Jones KL and Smith DW : Smith's Recognizable patterns of Human malformations (7th Edition, 2013): Elsevier Health Sciences
  5. Jorde LB, Carey JC and Bamshed MJ: Medical Genetics (4th Edition, 2010): Elsevier Health Sciences.
  6. Krebs JE, Goldstein ES, Kilpatrick ST. Lewin's Genes 11 ed. Jones and Bartlett. 2012.
  7. Kumar D, Eng C. Genomic Medicine, Principles and Practice. 2nd ed. Oxford University Press. 201
  8. Milunsky A and Milunsky JM: Genetic disorders and the fetus. 6th edition. Wiley and Blackwell. 2010.
  9. Nussbaum RL, McInnes RR, Willard HF: Thompson& Thompson Genetics in Medicine (7th Edition, 2007) Elsevier Health Sciences.
  10. Rimoin DL, Connor JM, Pyeritz RE, Korf BR : Emery and Rimoin's Principles of Medical Genetics (5th Edition, 2006) Elsevier Health Sciences.
  11. Saudubray J-M, Berghe G vd, Walter JH (Eds). Inborn Metabolic Diseases. Diagnosis and Treatment. 5th Edition 2012 Springer Online (accessed November 2012). ISBN 9783642157202
  12. Saudubray, Jean-Marie, Berghe, Georges van den, Walter, John H. (Eds.) Inborn Metabolic Diseases. Diagnosis and Treatment 5th ed. 2012, XXVIII, 660 p.
  13. Schaefer GB, Thompson Jr JN Medical Genetics - an integrated approach. McGraw Hill. (2014)
  14. Scriver, C.R., Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. Scriver's OMMBID The Online Metabolic & Molecular Bases of Inherited Disease
  15. Strachan T and Read AP: Human Molecular Genetics (4rd edition,2010) Garland Science/Taylor & Francis Group.
  16. Tobias ES, Connor M, and FergusonSmith M., Essential Medical Genetics Edition ; 6th ed ; Oxford, Cambridge, Mass. : Blackwell Science, 2011
  17. Turnpenny PD and Ellard S. editors, Emery's Element of Medical Genetics, (14 ed. 2011)
  18. Vogel and Motulsky's Human Genetics (4th Edition, 2010) Springer.
  19. Young I: Introduction to Risk Calculation in Genetic Counseling (3rd Edition,2006) Oxford University Press.
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 Board of Examinations 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. Thompson & Thompson Genetics and Genomics in MedicineNussbaum, McInnes, Willard · 9th edition · core referenceThe standard entry text and the backbone of theory preparation.
  2. Emery and Rimoin's Principles and Practice of Medical Genetics and GenomicsPyeritz, Korf, Grody · 7th edition · comprehensive referenceNow a multi-volume series; the definitive reference for clinical genetics.
  3. Smith's Recognizable Patterns of Human MalformationJones, Jones, Del Campo · 8th edition · dysmorphology atlasIndispensable for the dysmorphology spot and photograph stations.
  4. Practical Genetic CounsellingPeter S. Harper (Clarke) · 8th edition · counselling referenceThe reference for pedigree analysis, risk communication and counselling scenarios.
  5. Inborn Metabolic Diseases: Diagnosis and TreatmentSaudubray, Baumgartner, Garcia-Cazorla, Walter · 7th edition · metabolic referenceThe go-to for IEM presentations, biochemical workup and emergency management.
  6. Human Molecular GeneticsStrachan, Read · 5th edition · molecular basisCovers the molecular and genomic technology the exam expects you to explain.
  7. Gardner and Amor's Chromosome Abnormalities and Genetic CounselingGardner, Amor · 5th edition · cytogeneticsEssential for karyotype and structural rearrangement counselling problems.
  8. Genetic Disorders and the FetusMilunsky, Milunsky · 8th edition · prenatal geneticsStandard for prenatal diagnosis, screening and fetal genomics.
  9. ACMG/AMP variant interpretation standards and GeneReviewsACMG-AMP; GeneReviews (NCBI) · practice standardsVariant classification and GeneReviews entries are directly examinable in reports and viva.
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.

American Journal of Human GeneticsAmerican Journal of Medical GeneticsClinical ChemistryClinical GeneticsEuropean Journal of Human GeneticsEuropean Journal of Medical GeneticsGenes Chromosomes and CancerGenetic testing and Molecular BiomarkersGenetics in MedicineHuman GeneticsHuman Molecular GeneticsHuman MutationJ Molecular DiagnosisJournal of American Medical AssociationJournal of Fetal MedicineJournal of Inherited Metabolic diseaseJournal of Medical GeneticsLancetMolecular Genetics and MetabolismNature GeneticsNature Reviews GeneticsNew England Journal of MedicineOrphanet Journal of Rare DiseasesPrenatal DiagnosisScience & Translational medicineTrends in Genetics
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 DrNB Medical Genetics residents.

Year 1

Build the base

Read Thompson & Thompson and Strachan and Read to build the molecular base, learn pedigree and risk calculation from Harper, and start Smith's for dysmorphology. Register the thesis.

Year 2

Go deep, collect thesis data

Move to Emery and Rimoin for clinical depth, Saudubray during metabolic postings, and Gardner and Amor during cytogenetics; work daily with ACMG criteria and GeneReviews.

Year 3

Revise, drill, submit

Add Milunsky for prenatal genetics, revise selectively, drill dysmorphology photographs, karyotypes and NGS reports, and practise counselling role-play and timed short notes.

Thesis

References for your thesis

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

  • ICMR National Ethical Guidelines for Biomedical and Health Research Involving Human Participants
  • ACMG/AMP standards and guidelines for the interpretation of sequence variants
  • HGVS nomenclature recommendations
  • OMIM, ClinVar, gnomAD and Orphanet as reference databases
  • STROBE reporting statement and Indian rare disease policy documents (NPRD)
Practical & viva

What the practical actually tests

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

  • Clinical case with detailed dysmorphology examination and syndrome diagnosis
  • Three-generation pedigree drawing, inheritance assignment and recurrence risk calculation
  • Genetic counselling role-play including pre-test and post-test counselling
  • Karyotype and FISH interpretation, including ISCN nomenclature
  • Chromosomal microarray and next-generation sequencing report interpretation with ACMG classification
  • Biochemical genetics data: tandem mass spectrometry, GCMS urine organic acids, enzyme assays
  • Prenatal diagnosis scenarios: screening results, invasive testing choice, fetal imaging
  • Laboratory viva on PCR, Sanger sequencing, MLPA, NGS workflow and quality control
About the course

DrNB Medical Genetics in context

DrNB Medical Genetics theory is three papers of 100 marks each over three hours per paper, written as short notes, with 150/300 to pass, and a 300-mark practical after theory using clinical cases and/or OSCE with viva. The practical is unusually station-based: dysmorphology spots, pedigree and risk calculation, laboratory report interpretation and a genetic counselling role-play are standard.

Frequently asked

DrNB Medical Genetics books — questions

Which books does the NBE curriculum list for DrNB Medical Genetics?

The National Board of Examinations curriculum for Medical Genetics lists 19 titles, beginning with Alberts B, Johnson A, Lewis J, Morgan D, Roberts K, Walter P. Molecular Biology of the Cell. 6th ed. 2014. Garland.. The full list is reproduced on this page exactly as it is published.

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

Thompson & Thompson Genetics and Genomics in Medicine by Nussbaum, McInnes, Willard is the usual anchor. The standard entry text and the backbone of theory preparation.

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

DrNB 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 DrNB 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.

Other superspecialties

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