Genetic and Genomic Counselling

This module is also available as part of the MSc in Genetic and Genomic Counselling.

The overall aim of this introductory module is to provide all students with a broad knowledge and understanding of healthcare-related science (pharmacology, therapeutics, physics, epidemiology), contextualised to the practice of genetic and genomic counselling. The module provides the key concepts that underpin the organisation, structure and function of the body and psychosocial aspects of health and disease. Principles of patient care-centred, patient safety, service delivery, research and innovation will also be introduced. A key focus of this module is professional practice, including critical review of frameworks that underpin professional practice and quality improvement, enabling students to gain the knowledge, skills, experience and tools to develop, improve and maintain high standards of patient care.

Who is it for?

The module is suitable for those working in clinical healthcare, who wish to learn more about genetics and genomics, or who are considering a career in genetic counselling

What will I learn?

In addition to theoretical and subject-specific skill-sets that are taught as part of this module, this module also emphasises development of translational skills that enhance employability. These include:

• Enhancing self-directed study skills
• Developing good scientific writing, presentation and critical evaluation skills
• Populating personal development portfolios with relevant and professionally recognised materials

At the end of the module, students will be able to:

Scientific Principles underpinning genetic counselling practice

1. Describe the cellular, tissue and system’s responses to a range of genetic diseases
2. Explain the main principles and core concepts of the sociology of health and illness and the relevance of these to clinical genetics practice
3. Explain the principles of genetic epidemiology, public health and health protection and discuss in relation to genetic screening programmes
4. Explain the principles of clinical pharmacology and therapeutics and discuss the relevance of these to patients of clinical genetics services
5. Explain the principles of physics that underpin healthcare science and how these apply to treatment for patients referred to clinical genetics

Professional Practice

1. Appraise professionalism, the importance of this for genetic counselling practice, genetic counselling patients, the practice of healthcare science and the wider healthcare system;
2. Critically evaluate the structures, processes and methodologies that underpin healthcare quality improvement and patient safety, and critique the quality mechanisms used in clinical genetics and genetic/genomic counselling
3. Explain the principles of effective written and verbal communication and feedback, and how these are applied to address the needs and assure the dignity of patients, the public and other healthcare professionals

Clinical Leadership

1. Evaluate a range of leadership models, including those that underpin healthcare practice
2. Reflect on own personal values, principles and assumptions and how these influence own personal leadership style
3. Critique the ways in which patients and the public in your country are engaged with and have influence over how healthcare and healthcare education are delivered.

What will it cover?

• Introduction to the UK National Health Service (NHS) and principles underlying healthcare in other countries
• Introduction to communication in healthcare
• Feedback models and characteristics of effective feedback
• Professionalism and professional practice in healthcare
• Introduction to leadership in healthcare: theories and models of leadership, personal qualities and behaviours that promote shared leadership
• Introduction to quality improvement in healthcare: patient safety and healthcare quality; quality control & quality assurance
• Clinical governance, risk management and compliance
• The human body in health and disease: organisation, structure and function of the body; organ systems; pathophysiology: cellular, tissue and systems responses to disease
• Epidemiology, public health and health protection
• Comparing the national screening programmes offered internationally
• Introduction to clinical pharmacology and therapeutics
• Basic principles of physics underpinning common measurement techniques used in healthcare science

The taught content of the module will be delivered using a combination of online plenaries, specialist online discussion boards, case-based formative work and live-streaming video-conferenced discussions. Students will be actively encouraged to ask/email/message questions to the lecturers to gain further understanding and feedback on the topics covered. Students will also have access to innovative teaching materials relating this module, uploaded to Learning Central, during or after a particular teaching session has been timetabled. These materials will take the form of interactive and immersive content designed to elucidate complex concepts in ways that are easy for students to assimilate. In parallel with these, students will be provided with a work book and a case study to work through in a self-directed fashion to aid their understanding and learning about the topics. Students will be encouraged to utilise the formative module quiz throughout the module and consider this as a ‘progress test’ to map the trajectory of their learning. Specifically, students will be encouraged to take the quiz prior to the start of the module, and again at the end of the module, after which they will be guided towards the learning resources for the questions they found challenging. The module is assessed by formative and summative assessments.

Module lead:  Rachel Price Tate

Teaching dates:  27 January - 11 July 2025

This module is also available as part of the MSc in Genetic and Genomic Counselling.

This module provides an introduction to research methods and their application to genetic and genomic counselling research. Research will be distinguished from audit, service development, service evaluation and innovation, and the relationships between and amongst these activities will be explored. The module will provide an overview of the structure of a research project and MSc dissertation report, as well as project management methods. Overall approaches and methods for data collection and analysis in quantitative and qualitative research paradigms and systematic reviews will be covered, as well as their application to genetic and genomic counselling research. There is a very strong emphasis on the development and application of critical appraisal skills throughout the module, providing the necessary grounding for students who intend to progress on to an MSc dissertation project.

Who is it for?

The module is suitable for those working in clinical healthcare, who wish to learn more about genetics and genomics, or who are considering a career in genetic counselling. It is also suitable for those intending to progress on to an MSc dissertation project.

What will I learn?

In addition to theoretical foundations for clinical research that are taught as part of this module, students will also develop practical research skills. The student will:

• Undertake an evidence-based literature review, critically appraise the output, draw appropriate conclusions and report the findings, and where appropriate, use the findings to inform a research project.
• Identify, discuss and critically evaluate a research, service development and evaluation, innovation and clinical audit that has resulted in an improvement in patient care or service delivery in genetic and genomic counselling.

At the end of the module, students will be able to

• Critically evaluate how research, service development and evaluation, innovation and clinical audit can improve patient care, promote innovation and improve service delivery in genetic and genomic counselling.
• Justify application of a range of research methods/approaches (qualitative and quantitative, systematic review, clinical trials) to answering research, service development and evaluation, innovation and clinical audit questions.
• Explain and justify current ethical and governance frameworks and processes applied to the conduct of research with human subjects, service evaluation and clinical audit.
• Critically evaluate the literature/evidence base to identify a research, service evaluation, audit or innovation question relevant to genetic counselling patient care or service delivery
• Develop and justify a novel approach to answering the question from idea generation through ethical and governance approaches to dissemination/implementation, including patient involvement and intellectual property.
• Justify the data collection and analysis methods to ensure the validity, reliability and appropriateness in relation to the research, service evaluation, audit or innovation question and aims of the study
• Critique the concept of evidence-based practice in genetic and genomic counselling, methods for development of clinical guidelines, and the role of current statutory and advisory regulatory bodies.
• Identify potential sources of genetic and genomic counselling research and innovation funding.
• Describe the process and requirements for publication in peer-reviewed journals and the current criteria and metrics for assessing the quality of published research.

What will it cover?

• Study designs in healthcare.
• Evidence-based practice.
• Research paradigms: Qualitative and Quantitative approaches.
• Research questions; role of the literature review; research design.
• Populations, samples and statistically representative samples.
• Statistical significance and confidence intervals.
• Statistical tests: t tests, analysis of variance, regression, chi-squared tests.
• Quantitative research: Sampling, data collection, analysis and interpretation; Strengths and limitations of a range of quantitative approaches (surveys, experiments, prospective studies, case-control studies); critical appraisal.
• Surveys, (Patient-reported) outcome measures; validity, reliability and responsiveness of (Patient-reported) outcome measures.
• Qualitative research: Sampling, data collection, analysis and interpretation; interviews; transcription, coding and visual representations; Strengths and limitations of a range of qualitative methods (Interpretive Phenomenological analysis, Grounded theory, Ethnography, Discourse analysis, Narrative analysis, Framework analysis); critical appraisal.
• Systematic reviews and meta-analysis.
• Validity, reliability and generalizability of study findings.
• Research governance and ethical conduct of research; informed consent.
• Dissemination and implementation of research findings; standards for research reporting (e.g. CONSORT, TIDieR).
• Research project management.
• Use of theoretical frameworks in genetic and genomic counselling research (including Health Psychology theory).

The module content will be delivered mainly through timetabled online student contact sessions. Teaching sessions will be conducted using a combination of: flipped classrooms, online didactic lectures, online group discussion and extensive experiential formative exercises. Formative work will include critical appraisal of published research, with students required to post their critique on the online discussion board. Participation in the formative work is compulsory. Students will also have access to innovative teaching materials relating this module, uploaded to Learning Central, before, during and after the student contact sessions. These materials will take the form of interactive and immersive content designed to support development of critical skills. Students will be given a number of opportunities in class to practice skills in critical appraisal of published research, and this will be assessed in the Research Proposal and Literature Review assignments.

Module lead:  Professor Marion McAllister

Teaching dates:  23 September 2024 - 4 April 2025

This module is also available as part of the MSc in Genetic and Genomic Counselling.

This module will provide the student with an introduction to human genetics and molecular science, and a knowledge and understanding of bioinformatics tools. It will cover the delivery and organisation of a genetics laboratory service, and the partnership of genetics with other clinical specialisms to manage genetic and genomic disorders. Students will be introduced to how bioinformatics strategies can be applied to genomic and genetic data to generate information and knowledge that contributes to patient care and care pathways within a clinical setting. The module will also introduce the ethical and governance framework appropriate for working with patient data in a healthcare setting.

Who is it for?

The module is suitable for those working in clinical healthcare, who wish to learn more about genetics and genomics, or who are considering a career in genetic counselling

What will I learn?

In addition to theoretical and subject-specific skill-sets that are taught as part of this module, it also emphasises development of translational skills that enhance employability. These include:

• enhancing self-directed study skills
• developing good scientific writing and critical evaluation skills
• interpreting and analysing clinical bioinformatics data
• populating personal portfolios with relevant material.

At the end of the module, students will be able to:

1. explain nucleic acid structure and function, and discuss the flow of information from DNA to RNA to protein in the cell
2. explain chromosome structure and function
3. explain and apply the nomenclature used to describe the human genome
4. discuss patterns of inheritance
5. discuss the role of polymorphisms in Mendelian and complex disorders and give examples of polymorphisms involved in genetic disease
6. describe the biological background to diagnostic genetic testing and genetics, and the role of bioinformatics
7. explain the theory of sequence analysis and the use of genome analysis tools and bioinformatics databases
8. describe and evaluate the design, operation and performance of methods used in the investigation of genetic and genomic alterations in association with disease
9. describe the partnership of Clinical Bioinformatics and Genetics with other clinical specialisms in the investigation and management of genetic disorders and the contribution to safe and effective patient care
10. discuss the governance and ethical frameworks in place within the NHS and how they apply to bioinformatics.

What will it cover?

• Introduction to the human genome
• chromosome structure and function
• meiosis and mitosis
• nucleic acid structure and function; the central dogma
• introduction to the molecular basis of disease
• patterns of inheritance: autosomal dominant and recessive, X-linked and non-Mendelian disorders
• molecular genetic testing: DNA extraction, fragment analysis, PCR and DNA sequencing,
• cytogenetic testing: cell culture, chromosome analysis, FISH, microarray
• analytical and clinical sensitivity and specificity of these tests
• analysis and interpretation of genetic variation in a clinical context
• potential applications of relevant emerging genetic and genomic testing in healthcare; types of sequencing, applications and limitations; quality control; analysis, annotation and interpretation
• fundamentals of bioinformatics: Similarity/homology; sequence alignment and annotation; variant identification; gene ontology (GO) and human phenotype ontology (HPO)
• statistics and Bioinformatics in genetics/genomics: Hardy-Weinberg, Bayes theorem, risks in pedigrees; use of statistical models to call variants with accuracy; introduction to R scripting
• clinical applications of Bioinformatics; use of databases e.g. dbSNP, DECIPHER, Orphanet, Diagnostic Mutation Database (DMuDB)/NGRL Universal Browser
• genetic test reports; Governance frameworks; standard operating procedures.

The taught content of the module will be delivered using online plenaries and presentations, specialist online discussion boards and live-streaming video-conferenced case-based discussions (with anonymised patient cases relating to the module’s content). Students will be encouraged to ask/email/message questions to the lecturers to gain further understanding and feedback on the topics covered. Students will also have access to teaching materials relating to this module, uploaded to Learning Central during or after a particular teaching session has been timetabled. These materials will take the form of interactive and immersive content designed to elucidate complex bioinformatics and genetics/genomics concepts in ways that are easy for students to assimilate. In parallel with these, students will be provided with suitable case studies to work through in a self-directed fashion to aid their understanding and revision of the topics. Students will be encouraged to utilise the formative module quiz throughout the module and consider this as a ‘progress test’ to map the trajectory of their learning. Specifically, they will be encouraged to take the quiz prior to the start of the module, and again at the end of the module, after which they will be guided towards the learning resources for the questions they found challenging. The module is assessed by formative and summative assessments.

Module lead:  Dr Nicki Taverner

Teaching dates:  7 October 2024 - 14 February 2025

This module is also available as part of the MSc in Genetic and Genomic Counselling.

This module will provide the student with the knowledge base across a breadth of commonly encountered genetic conditions. It will equip students with the skills to apply knowledge as they work in partnership with patients, their families and clinical colleagues and consider the genetic counselling service from a patient perspective. Some relevant prior knowledge is assumed. Using case based learning they will understand the diagnosis, course and prognosis, management, inheritance and recurrence risks for the most commonly encountered genetic conditions. The importance of collaborative decision making, treating patients and their families with empathy and respect and supporting choice and autonomy will be embedded into all learning. A comprehensive approach across life stages is undertaken. The emphasis will be on developing genetic counsellor professional competencies relating to clinical assessment and provision of accurate clinical and genetic information.

Who is it for?

The module is suitable for those working in clinical healthcare, who wish to learn more about genetics and genomics, or who are considering a career in genetic counselling.

• Please contact Dr Nicola Taverner (tavernern@cardiff.ac.uk) prior to applying for this module to discuss your prior genetics knowledge, because this module assumes significant prior knowledge of human genetics.”

What will I learn?

In addition to theoretical and subject-specific skill-sets that are taught as part of this module, it also emphasises development of translational skills that enhance employability. These include:

• writing an online blog
• enhancing self-directed study skills
• developing good scientific writing and critical evaluation skills
• interpreting and analysing clinical bioinformatics data
• populating personal portfolios with relevant material
• producing, delivering and evaluating online learning

At the end of the module, students will be able to:

1. Describe the clinical presentation of a range of commonly encountered genetic conditions that present in differing clinical situations (such as prenatal, paediatrics, inherited cancer and adult-onset conditions) and discuss their impact at different stages of life.
2. Explain the genetic mechanisms and inheritance patterns associated with a range of inherited conditions (e.g. single gene variants, chromosomal abnormalities, triplet repeats, imprinting, mitochondrial disease) and also the genetic contribution to multi-factorial conditions.
3. Explore the concept of differential diagnoses and describe a range of investigations used to discriminate between conditions, including their evidence base.
4. Obtain and critique guidelines and resources relevant to particular clinical situations.
5. Describe different methods used to calculate risks from family pedigrees and empiric data, and critique different ways of presenting risk.
6. Explore how psychosocial issues are considered during genetic diagnosis and discuss the importance of the partnership with the individual/family.
7. Discuss and interpret how genetic and genomic testing may be applied to individual clinical situations, and how this may impact on collaborative decision-making and supporting the family.
8. Describe and critically evaluate the selection and differentiation of a range of current genomic testing strategies used to sequence targeted parts of the genome or the whole exome/genome and how they are applied within prenatal, childhood and adult settings.
9. Explain how genomic results are generated and how data is filtered using bioinformatic pipelines.
10. Evaluate and utilise approaches for the interpretation of genomic results and the use of genotype and phenotype data in establishing pathogenicity.
11. Describe the use of genomic results in personalised/precision medicine, pharmacogenetics and emerging therapeutics.
12. Appraise the broader use of genomic screening for disease risk prediction.
13. Discuss the role of the genetic counsellor in the partnership of genetics with other clinical specialisms in the diagnosis of genetic disorders.
14. Critique theories and approaches to adult education and how to apply these to education of healthcare colleagues in genetics and genomics.

What will it cover?

• Genetic basis of disease and the mechanisms of pathogenesis and breadth of genetic conditions
• key life stages when diagnosis may occur: prenatal, paediatric and adult
• prenatal diagnosis: screening (including national screening programmes), non-invasive prenatal diagnosis/testing, genetic single gene/array and combined screening such as biochemical and ultrasound; clinical, scientific, ethical and legal requirements of prenatal testing
• clinical presentation and assessment of patients; Selection of appropriate diagnostic tests; clinical, scientific, ethical and legal requirements of diagnostic testing
• presymptomatic and carrier testing; clinical, scientific, ethical and legal requirements of pediatric, presymptomatic and carrier testing
• interpreting laboratory reports; timely and appropriate communication of genetic test results, risk and management options, including screening and prevention options
• risk analysis and risk communication
• theories and approaches to adult education
• best practice guidelines, including NICE guidelines
• patient-centred care
• multidisciplinary working
• research opportunities for different patient groups and role of Good Clinical Practice
• genetics education in healthcare; adult learning theory; learning styles; lesson plans and design
• benefits and challenges of genetic and genomic technologies in genetic counselling practice: pre-conception and reproductive genetic counselling; the diagnostic odyssey
• genomics testing strategies: gene-focused; targeted panels; whole genome / whole exome; sensitivity and specificity of genetic / genomic tests; appropriate application of these strategies for detection of sequence and copy number variants, and chromosome rearrangements
• bioinformatics pipelines: the reference sequence; alignment, annotation and calling of sequence variants; filtering strategies for the identification of pathogenic variants; prediction of variant impact on protein structure and function; establishing the clinical significance of results
• data management and regulatory issues in genomics
• genomic screening
• role of the genetic counsellor in the genomics era.

The taught content of the module will be delivered using online plenaries and presentations, specialist online discussion boards and live-streaming video-conferenced case-based discussions (with anonymised patient cases relating to the module’s content). Students will be actively encouraged to ask/email/message questions to the lecturers to gain further understanding and feedback on the topics covered. They will be asked to select two conditions from an initial list, which are inherited in different ways and have a different impact, and complete a blog each week to reflect on how what they have learned is relevant to these particular conditions. This blog will form the basis for an assessed case study. Students will also have access to innovative teaching materials relating to this module, uploaded to Learning Central, during or after a particular teaching session has been timetabled. These materials will include cases through which students can practice using online databases such as ClinVar, OMIM and Decipher to establish pathogenicity of variants. Students will be encouraged to utilise the formative module quiz throughout the module and consider this as a ‘progress test’ to map the trajectory of their learning. Specifically, they will be encouraged to take the quiz prior to the start of the module, and again at the end of the module, after which they will be guided towards the learning resources for the questions they found challenging. The module is assessed by formative and summative assessments.

Module lead:  Dr Nicki Taverner

Teaching dates:  27 January - 11 July 2025