Genetic and Genomic Counselling

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: 12 October 2026 to 19 March 2027

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 to 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: 28 September 2026 to 26 February 2027