Teaching Medical Genetics to Undergraduate
Medical Students (agreed by BSHG and JCMG)
Policy
In 1994 in the document, ‘Tomorrow’s Doctors’, the General Medical Council sets out
recommendations for the modification of the current teaching of medical students to:
o Reduce the burden of fact
o Encourage learning through curiosity (problem based learning)
o Inculcate professional attitudes
o Teach essential skills
o Provide a core curriculum - system based on no preclinical/clinical divide
o To provide special study modules
o Develop communication skills
o Provide training in public health.
These recommendations centre on the restructuring of the undergraduate medical
curriculum into a core curriculum comprising essential knowledge, skills and attitudes to be
acquired by all students together with a series of special study modules, which allow
students to study a number of areas of particular interest to them. The aim of these
recommendations was to reduce the burden of factual information imposed on students,
promote self-learning and improve the educational effectiveness of the course.
As a result of these recommendations, all Medical Schools in the UK have restructured
their teaching and regardless of which forms of teaching they have introduced, all have
reconsidered the essential core elements required by all Medical Graduates.
This 1994 document has recently been updated by a new version of ‘Tomorrow’s Doctor’
published in 2002. The main recommendations in this document which relate to the
teaching of Medical Genetics include:
o Attitudes and behaviour suitable for a doctor to relate appropriately in their future
responsibilities to patients, colleagues and society in general must be learnt
progressively,
o The core curriculum must set out the essential knowledge, skills and attitudes
students must have by the time they graduate;
o The core curriculum must be supplemented be a series of student-selected
components that allow students to study in depth, areas of particular interest to
them;
o The core curriculum must be the responsibility of clinicians, basic scientists and
medical educationalists integrating their contributions to achieve a common purpose;
o Factual information must be kept to the essential minimum that students need at
this stage of medical education;
o Learning opportunities must help students explore knowledge and evaluate and
integrate evidence critically. The curriculum must motivate students to develop a
capacity for self-directed learning;
o The essential skills that graduates need must be grained under supervision. Medical
schools must assess students’ competence in these skills;
o The curriculum must stress the importance of communication skills and the other
essential skills of basic clinical method;
o The health of the public must be an important part of the curriculum;
o Critical teaching must reflect the changing patterns in healthcare and provide
experience in a variety of clinical settings;
o Teaching and learning systems must take account of modern educational theory and
make use of modern technologies.
This document takes these recommendations into account when considering the most
appropriate material for inclusion in a core curriculum for Medical Genetics.
Background
Prior to this, in 1990, the Royal College of Physicians of London published the report of a
working party of its Committee on Clinical Genetics on ‘Teaching Genetics to Medical
Students - a survey and recommendations’.
They stated that - 'As a consequence of the results of the surveys outlined in this report,
a strong consensus has emerged in favour of a genetic core curriculum in undergraduate
medical education, supplemented by the acquisition of certain basic clinical genetic skills.
Rapid development in molecular biology coupled with increased patient awareness and
expectations emphasise the importance of ensuring that medical students are familiar
with the principles of human genetics and their applications in preventative medicine.
There is an unambiguous and pressing need for the establishment of careful co-ordinated
and clearly delineated genetic teaching in medical schools.'
In a subsequent follow up carried out in 1996, Medical Schools were asked to rank core
curriculum and skills deemed to be appropriate for the teaching of Medical Genetics to
Medical students. The findings of this study are listed in Appendix I and II.
Aim of the current consultation:
1. To identify a small essential core of medical genetic material to be taught to
undergraduate medical students.
2. To select a core of material which would be required by every newly qualified doctor to
practice safely.
3. To select material for inclusion where ignorance of the knowledge or lack of the
relevant skill would lead to harm to patients (defined as adverse clinical outcome,
serious psychological harm or poorly informed reproductive decision-making).
4. To select material for teaching which will allow and facilitate future professional
development.
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)
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
Types of DNA test (testing for a specific mutation vs scanning a gene for mutations)
Gene frequencies of common recessive mutations
Genetic heterogeneity
Parameters governing population genetic screening
Developmental genetics: selective transcription; differentiation; stem cells.
The clinical embryology of human malformation syndromes
Epigenetic events including imprinting
Principles of teratogenesis
Evolution, natural selection and selective advantage
History of eugenics movement
Learning Objectives:- To provide the basic knowledge required to underpin the
learning objectives associated with Clinical Genetics which will be required for a newly
qualified doctor to practice safely
In order for a doctor to be able to ensure that they can achieve the learning objectives
associated with Clinical Genetics, certain basic scientific and historic knowledge is
required. For most students, much of this material will have been covered prior to entry
into an Undergraduate Medicine degree. Where this is not the case it will need to be
provided in the early years of any Medical Degree to facilitate an understanding of place
of Genetics in modern medical practice.
Justification:- Not only is this material essential to understand the current practice of
Clinical Genetics but it is also necessary to facilitate the continued medical development
of a doctor as our understanding of the molecular basis of disease and its treatment
progresses.
II - Clinical Genetics
Specific Learning Objectives for Clinical Genetics
At the end of your undergraduate teaching you will be expected to be able to:
 Take a family history
 Construct and interpret a family tree
 Recognise basic patterns of inheritance
 Appreciate the risk of individuals suffering simple Mendelian disorders
 Have a clinical knowledge of several Mendelian disorders
 Have a clinical knowledge of chromosomal disorders including translocations, microdeletions and the methods used to detect them
 Have a clinical knowledge of the genetic factors associated with cancer predisposition
 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
 Be able to interpret a simple DNA report and chromosome report
 Be able to 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 familiar with the practice of the genetic counselling clinic, its motives 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
 Know when and where to get genetic advice and information
 Perceive major ethical issues in Genetics
Learning Objective:- To be able to take a family history and construct and interpret
a family tree from a verbal description.
Able to draw an accurate family tree using standard symbols from a verbal description of
a family structure as would typically occur in a clinic. Family structures may include up to
25 individuals over 3 generations and include siblings, half-siblings, cousins and twins.
Justification:- Inability to perform this skill is likely to result in misunderstanding of
family structures by the doctor, inaccurate communication to other professionals, and
subsequent incorrect risk assessments. This creates risk of clinical harm (eg wrong
screening advice to cancer family) or poorly informed reproductive decisions (eg choices
made be possible carrier woman from family with X-linked condition).
Learning Objective:- To be able to recognise inheritance patterns
Based on the family history of disease and the family tree , to be able to identify all
forms of Mendelian inheritance, consanguinity and founder effects.
Justification:- In order to be able to diagnose genetic disease, it is necessary to know the
type of inheritance and as a part of the management of the condition, identify others at
risk and prepare the family for relevant clinical issues.
Learning Objective:- To have a clinical knowledge of several Mendelian and
chromosomal conditions
To be able to state, for several genetic conditions, usual mode of inheritance, 2 major
features, 1 major complication, usual diagnostic test, 1 source of further information.
Conditions:- e.g Marfan syndrome, HNPCC, neurofibromatosis type 1, cystic fibrosis,
Duchenne Muscular Dystrophy, Down syndrome, micro-deletion syndrome.
To be able to understand the implications of balanced and unbalanced chromosomal
translocations and mircodeletions and the methods that can be used to detect them.
Justification:- Most doctors are likely to have contact with relatively common Mendelian
conditions from time to time. Lack of basic knowledge of features and complications of
these conditions creates a risk of clinical harm, lack of knowledge of inheritance leads to a
risk of poorly informed reproductive choices. Lack of knowledge of sources of further
information exacerbates both of the above risks.
Learning Objective:- To have a clinical knowledge of the genetic factors associated
with cancer predisposition
To be able to identify those characteristics of a family history which suggest the
presence of a familial cancer syndrome.
Justification:- As cancer is a common condition it will occur in most families. It is useful
if a doctor can differentiate those factors which make it more probable that a family
harbours a familial cancer syndrome or may simple have a greater genetic contribution to
cancer risk than the general population
Learning Objective:- To be able to recognise the genetic and environmental
contribution to multi-factorial conditions e.g. congenital heart disease, diabetes and
psychiatric illness
To be able to state for a few common conditions the contribution of genetic and
environmental factors in their causation and to relevance of this to the management of the
patient and to population health issues, if any.
Justification:- As the Human Genome Project progresses and the relevance of its
findings to health and disease are clarified, so will our understanding of the interactions
between constitutive genetic contribution and environmental factors. This has relevance
for the classification, management and prevention of disease.
Learning Objective:- To be able to understand approaches which can be used for the
diagnosis of genetic disease and carrier detection
To be able to understand the methods utilised in the diagnosis of genetic disease including
family history, ethnic background, clinical phenotype and the role of laboratory testing for
the diagnosis of disease and for the identification of individuals who are carriers of
genetic conditions.
Justification:- In the diagnosis of genetic disorders a combination of methods are usually
required. In addition to allowing the diagnosis of patients with symptoms or signs, carriers
of a predisposition to the condition or individuals at risk of passing on the condition can
also be detected. The effective use of appropriate approaches can facilitate diagnosis and
often avoid unnecessary or even inappropriate investigation.
Learning Objective:- To understand different forms of DNA testing including prenatal
and pre-implantation diagnosis, predictive and diagnostic testing
To understand that DNA tests can be used to diagnose a genetic disorder, identify
individuals who are at risk of developing genetic disease both pre- and post-natally or to
identify individuals who are at risk of having a child with a genetic disease. To understand
that with the current molecular techniques, DNA diagnosis can be carried out on single
cells such as can be obtained from a developing embryo.
Justification:- Clinically relevant tests, performed with the consent of the patient, can
not only diagnose genetic diseases which are already resulting in signs and symptoms, but
can identify mutations in samples from individuals who are at risk of developing a genetic
disease. The use of such tests requires considerable counselling to ensure that those
requesting testing understand the full significance of a result.
Learning Objective:- To be able to interpret a DNA report and chromosome report
To be able to interpret the type of information provided in reports from DNA Diagnostic
and Cytogenetic Laboratories for common conditions.
Justification:- Analysis of an individuals chromosomes or their DNA can provide
information wish: makes a definite diagnosis; alters the likelihood of a specific diagnosis or
which produces a result the significance of which, is unknown and incidental finding. The
ability to appropriately interpret such results and apply them to patient management is
essential for evidence-based medicine.
Learning Objective:- To be familiar with the practice of the genetic counselling clinic,
its motives and methods including the principals of non-directive, non-judgemental
counselling and impact of genetic diagnosis on the extended family
To be familiar with the workings of genetic counselling clinics in Regional Genetics Units.
To understand the aims and methods of these clinics and where appropriate the use of
non-directive counselling and evidence based methods of providing information and advice.
To understand the impact of the diagnosis of a genetic condition on the extended family
of the consultand.
Justification:- Genetic counselling involves a team of professionals working together to
allow the diagnosis of genetic disease and appropriate counselling of both the consultand
and their extended family where appropriate. As genetic processes can also identify at
risk situations, education and non-directive counselling is an important part of the process.
Learning Objective:- To know when and where to get help and information
To know under what clinical relevant circumstances advice from a Clinical geneticist should
be sought and to know where to find further information such as guidelines and relevant
literature.
Justification:- As several thousand conditions can be inherited in a Mendelian fashion and
many diagnosed using genetic techniques, non-specialist clinicians cannot be expected to
have a detailed knowledge of these rare disorders or the guidelines relating to evidence
based diagnosis and management. Hence, it is appropriate for these generalists to know
where and when to obtain advice and seek clinical genetic referral for their patients.
Knowledge of where to obtain appropriate guidelines and reviews of the literature can
facilitate the management of these processes.
Learning Objective:- To perceive major ethical issues
To know what are considered as major ethical issues relating to the use of genetic
information and procedures.
Justification:- There are many issues relating to the use of genetic information and
techniques which can produce ethical dilemmas in certain circumstances or even more
generally. It is important to realise that individuals will have their own opinion on these
matters and that certain societies may regard some possibilities as inappropriate.
III:-Special Study Modules
Medical students should be offered the option of series of student-selected components
in both basic scientific and clinical aspects of Medical Genetics allowing students to study
in depth, areas of particular interest to them.
Conclusion
This paper provides a recommended core basic science and clinical curriculum for the
teaching of Medical genetics to medical students. It is based on previous work carried out
under the auspices of the Royal College of Physicians looking at the perceived top
Curriculum and Skills required for a Medical Graduate. In addition, it takes into account
the recommendations of the GMC documents ‘Tomorrows Doctors published in 1994 and
2002.
Appendix I: Genetic Core Curriculum identified in 1996
Rank Order
(1996)
Topic
No.
Topic
Rank Order
(1990)
1st
2nd
3rd
4th
5th
6th
7th
8th
9th
10th
11th
12th
13th
14th
15th
16th
17th
18th
19th
20th
21st
22nd
23rd
24th
25th
11
22
10
21
8
5
17
2
1
6
7
3
16
23
20
24
9
14
15
12
13
18
4
25
19
Patterns of Inheritance
Genetic Counselling
Medical Applications
Pre-natal Diagnosis
Mutations
Chromosomal Aberrations with examples
Common Disease
Cell Division
Chromosome Structure and Function
Structure of Human Genome
Protein Synthesis
Sex Determination
Malformations
Risk Calculations
Inborn Errors in Metabolism
Prevention of Genetic and Congenital Disease
Basic Molecular Techniques
Population Genetics
Twinning
Gene Mapping
Linkage
Immunogenetics
Karyotype Preparation
Genetic Services and Audit
Pharmacogenetics
1st
5th
4th
6th
14th
9th
2nd
7th
24th
12th
17th
8th
10th
18th
13th
11th
24th
19th
20th
21st
16th
15th
25th
23rd
22nd
*
Basic molecular techniques from 24th in 1990 to 17th in 1996
Prevention of genetic and congenital disease from 11th to 16th
Protein synthesis from 17th to 11th
Common disease from 2nd to 7th
Appendix II: Genetic Skills identified in 1996
Rank Order
(1996)
Topic
No.
Topic
Rank Order
(1990)
1st
2nd
3rd
4th
5th
11
1
14
10
12
1st
2nd
4th
3rd
9th
6th
7th
8th
9th
10th
8
9
5
4
7
11th
12th
13th
14th
15th
3
2
13
6
15
Know where to get information/help
Construct family tree/patterns of inheritance
Perceive major ethical issues in Medical genetics
Be aware of stress produced in Genetic issues
Be aware of basic organisation and location of
regional genetic centres
Recognise and deal with high risk pregnancies
Understand principles of non-directive counselling
Discuss role of genetics in common disease
Ability to interpret DNA report
Assess family members for inherited disease and
appreciate the range of normality
Understand concept of genetic heterogeneity
Understand chromosome report
Be aware of need for audit
Understand genetic papers in general journals
Separate exams to assess genetic skills
*
Interpret DNA from 14th in 1990 to 9th in 1996
Be aware of organisation and location of genetic centres 9th to 5th
6th
8th
5th
14th
11th
7th
10th
13th
12th
n/a