Medical Undergraduates: Genetics Curriculum

Teaching Medical Genetics to Undergraduate Medical Students

A core curriculum, updated from the previous curriculum (agreed previously by BSHG/JCMG) and now incorporating more recent developments including:

• Next-generation sequencing


• Incidental findings & other ethical issues



• HGVS nomenclature

• Gonadal mosaicism

• Trinucleotide repeat disorders

• Online databases & resources

• Cancer genetics

• Precision medicine (e.g. latest drugs for CF)

• Gene therapy

• Genome editing


The core curriculum sets out the essential knowledge and skills students should have by the time they graduate.

  • It should be supplemented be a series of student-selected components that allow students to study in depth, areas of particular interest to them.
  • Factual information should be kept to the essential minimum that students need at this stage of their medical education.
  • The curriculum should motivate students to develop a capacity for self-directed learning.


Essential Core Knowledge and Skills


I - Basic genetics

  • General features of the human genome (amount of DNA, number of genes,
    organisation into chromosomes, repetitive DNA, amount of inter-individual variation)

  • X-chromosome inactivation

  • Chromosomal basis of inheritance (mitosis and meiosis)

  • Modes of inheritance (Mendelian and non-Mendelian) including penetrance and
    expressivity including mitochondrial and complex multifactorial disorders

  • Mechanism of origin of numerical chromosome abnormalities

  • Major types of structural chromosome abnormalities and their basic implications

  • DNA as genetic material (outline of replication, transcription and translation)

  • Use of DNA polymorphisms as genetic markers

  • How mutations cause partial or complete loss of function or gain of function

  • Understand in-frame and frame-shift insertions/deletions

  • Be aware of nonsense-mediated decay (NMD)

  • Types of DNA test for point mutations (testing for a specific mutation vs sequencing a gene for mutations)

  • Basic medical genomics, next-generation (massively parallel/high throughput) sequencing & NGS-associated terminology.
  • Panel sequencing vs WES vs WGS approaches

  • Be aware of major WES/WGS projects e.g. DDD, Genomics England, Scottish Genomes Partnership

  • Basic HGVS nomenclature (e.g. “g.”, “c.”, “p.” and “fs”)

  • Genetic heterogeneity

  • Parameters governing population genetic screening

  • Developmental genetics: selective transcription; differentiation; stem cells.

  • Cancer genes e.g. oncogenes & tumour suppressor genes (including DNA repair gene types)

  • Epigenetic events including imprinting

  • Principles of teratogenesis and how it differs from mutagenesis

  • Evolution, natural selection and selective advantage


II – Clinically applied Genetics


Specific Learning Objectives

At the end of their undergraduate teaching students will be expected to be able to:

  • Take a family history

  • Construct and interpret a family tree

  • Recognise and understand basic patterns of inheritance

  • Appreciate the risk to relatives in families containing individuals affected by Mendelian disorders

  • Have a clinical knowledge of several Mendelian disorders

  • Have a clinical knowledge of chromosomal disorders including translocations, micro-deletions and the methods used to detect them

  • Have a clinical knowledge of the genetic factors associated with cancer predisposition

  • Have an awareness of the commoner familial cancer conditions, including breast/ovarian cancer and colorectal cancer and the associated genes

  • Recognise the genetic and environmental contribution to multi-factorial conditions e.g. congenital heart disease, cancer, diabetes and psychiatric illness

  • Understand approaches which can be used for the diagnosis of genetic disease and carrier detection

  • Understand different forms of DNA testing: prenatal diagnosis; pre-implantation diagnosis; predictive testing; as a diagnostic tool and appreciate when such testing may not be appropriate

  • Understand non-invasive prenatal testing/screening/diagnosis

  • Interpret a simple DNA report and chromosome report

  • Understand the terms “pathogenic” and “benign” with reference to DNA variants

  • Have at least a basic understanding of how the pathogenicity of a DNA variant is determined

  • Recognise cases with abnormal developmental and dysmorphic features

  • Be aware of current population genetic screening programs and guidelines for the introduction of such programs

  • Be aware of basic gene therapy & CRISPR technologies

  • Be aware of precision medicine approaches (e.g. for specific inherited CFTR variants)

  • Be familiar with the practice of the genetic counselling clinic, its aims and methods including the principles of non-directive, non-judgemental counselling and impact of genetic diagnosis on the extended family. Be able to communicate the concept of risk in a manner that can be understood by the patient

  • Be aware of de novo variants and of gonadal mosaicism

  • Be aware of genetic anticipation and have clinical knowledge of examples of trinucleotide repeat disorders (e.g. HD and DM1)

  • Know when and where to get genetic advice and information (including the clinical genetics department)

  • Be aware of the most useful online resources for clinical information and molecular data

  • Be aware of major ethical issues in Genetics (e.g. pre-symptomatic testing, communicating incidental findings, confidentiality, uses and abuses of genetic technology & information)



Updated: February 2020, by Prof Edward Tobias of the University of Glasgow, together with Dr Jonathan Berg of the University of Dundee, Dr Wayne Lam of the University of Edinburgh and Prof Zosia Miedzybrodzka of the University of Aberdeen, with assistance from Adam Tobias.