Clinical genetics CESR Portfolio Guide

• Aware of, and adheres to, the GMC professional requirements
• Aware of public health issues including population health, social determinants of health and global health perspectives
• Demonstrates effective clinical leadership
• Demonstrates promotion of an open and transparent culture
• Keeps up to date through learning and teaching
• Demonstrates engagement in career planning
• Demonstrates capabilities in dealing with complexity and uncertainty
• Aware of the role and processes for commissioning
• Aware of the need to use resources wisely

• Aware of national legislation and legal responsibilities, including safeguarding vulnerable groups
• Behaves in accordance with ethical and legal requirements
• Demonstrates ability to offer apology or explanation when appropriate
• Demonstrate ability to lead the clinical team in ensuring that ethical and legal factors are considered openly and consistently

• Communicates clearly with patients and carers in a variety of settings
• Communicates effectively with clinical and other professional colleagues
• Identifies and manages barriers to communication (e.g. cognitive impairment, speech and hearing problems, capacity issues)
• Demonstrates effective consultation skills including effective verbal and non-verbal interpersonal skills
• Shares decision making by informing the patient, prioritising the patient’s goals and wishes, and respecting the patient’s beliefs, concerns and expectations
• Shares decision making with children and young people
• Applies management and team working skills appropriately, including influencing, negotiating, re-assessing priorities and effectively managing complex, dynamic situations

• Makes patient safety a priority in clinical practice
• Raises and escalates concerns where there is an issue with patient safety or quality of care
• Demonstrates commitment to learning from patient safety investigations and complaints
• Shares good practice appropriately
• Contributes to and delivers quality improvement
• Understands basic Human Factors principles and practice at individual, team, organisational and system levels
• Understands the importance of non-technical skills and crisis resource management
• Recognises and works within limit of personal competence
• Avoids organising unnecessary investigations or prescribing poorly evidenced treatments

• Manages clinical information / data appropriately
• Understands principles of research and academic writing
• Demonstrates ability to carry out critical appraisal of the literature
• Understands the role of evidence in clinical practice and demonstrates shared decision making with patients
• Understands public health epidemiology and global health patterns
• Demonstrates appropriate knowledge of research methods, including qualitative and quantitative approaches in scientific enquiry
• Demonstrates appropriate knowledge of research principles and concepts and the translation of research into practice
• Follows guidelines on ethical conduct in research and consent for research
• Recognises potential of applied informatics, genomics, stratified risk and personalised medicine and seeks advice for patient benefit when appropriate

• Delivers effective teaching and training to medical students, junior doctors and other healthcare professionals
• Delivers effective feedback with action plan
• Able to supervise less experienced trainees in their clinical assessment and management of patients
• Able to supervise less experienced trainees in carrying out appropriate practical procedures
• Able to act as a clinical supervisor to doctors in earlier stages of training

• Conducts essential pre-clinic preparation
• Constructs an accurate genogram
• Assesses patient and family history
• Undertakes clinical examination relevant to clinical condition
• Discusses utility of genetic testing including limitations/uncertainties
• Takes appropriate consent for testing/storage of genetic material
• Manages confidentiality relating to genetic information/testing in family
• Diagnoses genetic disorders based on clinical findings and/or genomic results
• Discusses genetic test results and recommends/institutes appropriate clinical management for immediate and longitudinal care of family members.
• Documents accurately the outcome and implications of the genetic episode

• Adapts the genetic consultation to participate effectively in the multidisciplinary clinic setting
• Recognises and effectively communicates the value of the genetic contribution to colleagues and patients
• Manages genetic investigations including the communication of patient test results
• Demonstrates appropriate knowledge of the specific speciality with the MDT and makes relevant and focused contribution
• Integrates genetic investigations , results and counselling into the patient pathway effectively

• Discriminate between diagnostic and predictive genetic testing pathways
• Evaluates and communicates the advantages and disadvantages of a predictive genetic test
• Demonstrates understanding of lasting impact of predictive genetic test results
• Demonstrates ability to accurately calculate or otherwise assess the risks of a genetic disorder to a family member
• Implements an appropriate management plan to allow testing/screening for family members
• Demonstrates effective working with speciality and genetic counselling colleagues to plan cascade testing or screening

• Demonstrates ability to apply genetic principles in the prenatal setting and for pre-implantation genetic diagnosis and non-invasive prenatal diagnosis when applicable
• Manages the appropriate handling of genetic data/material after death of patient with a genetic condition
• Demonstrates accurate understanding of the legal framework relating to storage and testing of genetic material including implications for families

• Demonstrates understanding of genetic architecture and the cellular and molecular mechanisms that underpin inheritance in man
• Demonstrates understanding and application of the laboratory techniques that underpin current genetic testing
• Demonstrates ability to interrogate bioinformatics databases to aid in the interpretation of genomic variants
• Discusses the genetic testing strategy with clinical and scientific colleagues
• Demonstrates the ability to critically appraise cytogenetic and molecular reports and assess their relevance for patient care

• Recognises unsolved genetic questions at the limit of knowledge
• Contributes to and collaborates in research studies for patient benefit
• Demonstrates understanding of genome-based therapies
• Seeks opportunities to develop new strategies that will benefit patients in the future

Currency Window

Evidence of your recent practice will be given more weight to reflect current capabilities and we suggest that approximately 50% of your evidence for a curriculum outcome is drawn from within the last five years of clinical practice (WTE).

Evidence Volume

around 100 electronically uploaded documents