PG Credit Genomic Medicine CPD / Course details

This unit aims to develop students’ knowledge of common and rare genetic disease. A comprehensive approach is taken to diagnosis, genomic testing, prognosis, management, inheritance and impact across a range of genetic conditions.  Scope includes common chromosome, single gene and heterogeneous conditions including, inherited cancer, paediatric and adult onset disorders.

Discussions regarding limitations of practice, appropriate referral, psychosocial impact and family decision-making will equip students to work in multidisciplinary settings in the care for individuals and families with heritable conditions.

Learning will focus on a case-based approach to ensure relevance to clinical practice. Examples of paediatric and adult conditions will be used to illustrate the principles of genomic diagnosis, testing and counselling. Face to face sessions will be taught in one block over 3 days, to include lectures, problem based learning, and interactive workshops. This will be augmented by online lectures.

The number of rare monogenic disorders is estimated to be greater than 7,000, but only in approximately half of these are the underlying genes known. Common conditions such as intellectual disability, diabetes, schizophrenia and autism are thought to arise from a complex interplay of genetic and environmental factors but deeper understanding of the genetic and mechanistic basis of these diseases is necessary for clinical translation.

 The aim of this module is to provide a brief introduction to the clinical presentation and manifestations of rare inherited and common diseases and consider the patient and family perspective with respect to the role and impact of genomics. The module will also focus on the genetic contribution to the aetiology of these conditions and strategies currently used to identify gene alterations in the clinical situation. Students will learn how to identify the most frequently encountered common and rare genetic disease phenotypes and how to select cases with unmet diagnostic need that will benefit from genomic testing.

Learning will focus on a case-based approach to ensure relevance to clinical practice. A range of formats will be used in both face-to-face and e-learning:

1. Lectures, problem-based learning, case studies and group work.

2. e-learning  lectures, problem-based learning, case studies and background reading to enhance face-to-face sessions

Examine the landscape of common and rare inherited diseases. Demonstrate knowledge of common and rare inherited diseases, including multi-factorial disorders, paediatric genetics, cancer genetics and adult-onset conditions.

Explain the genetic architecture of common and rare inherited diseases 

Understand the way genomic testing and other investigations are used in diagnosis and the important of phenotyping (e.g. dysmorphic diagnosis, clinical biochemistry, imaging techniques), in the investigation of candidate pathogenic variants.

Understand the use and application of genomic testing and the impact of genetic diagnosis on the patient and family.

Identify phenotype, select cases and relevant family information for genomic testing including whole exome/whole genome sequencing.

Demonstrate knowledge of the psycho-social responses to diagnosis and family impact and cultural issues.

Appreciate the important of genetic diagnosis in the management and family impact of genetic disease.

Interpret clinical, family history and genomic test results to make appropriate diagnosis and accurate genetic risk assessments, in the context of individual clinical situations.

Critically analyse and evaluate the relevant scientific literature and apply to clinical situations.

Interpret information gained from genomic testing with patient information to determine diagnosis, penetrance or prognosis for a number of examples of common and rare inherited conditions.

Use databases and other resources to research up-to-date genetic and clinical information across a range of common and rare genetic diseases.

Convey clinical and genetic information appropriate to individual clinical needs and level of understanding. 

Facilitate clients’ decision-making and adjustment.

Appreciate the ethical and psychosocial issues to be considered during the process of genetic diagnosis.

Recognise professional boundaries including when to refer on in most complex situations.

Discuss and critically evaluate the implications of patient access to their medical records and clinical information for medical genomics, inter-professional practice and multidisciplinary care.

Formative and Summative feedback given.

Includes but is not limited to:

1.  Cassidy, S.B. and Allanson, J.E. Management of Genetic Syndromes. (3^rd Edition, Wiley-Blackwell, 2010)
2.  Firth, J. A. and Hurst, J.G. (eds) Oxford Desk Reference: Clinical Genetics. (Oxford, 2005)
3.  Harper  P Practical Genetic Counselling, 7th edition (Edward Arnold Publishers, 2010)
4. Read AP, Donnai D  ‘New Clinical Genetics. A Guide to Genomic Medicine.’ (4th Ed.) Scion Publishing Ltd, 2021

 Internet addresses for key reference sources:

 OMIM (online version of McKusick's Mendelian Inheritance in Man)::

http://www.ncbi.nlm.nih.gov/omim/Medline

http://www.ncbi.nlm.nih.gov/pubmed

Gene reviews

www.genetests.org

Orphanet (rare genetic diseases)

www.orpha.net