Consultant Paediatric Geneticist

Responsibilities

• Provide comprehensive assessment, diagnosis, and management of infants, children, and adolescents with suspected or confirmed genetic disorders

• Evaluate children with congenital anomalies, developmental delay, intellectual disability, dysmorphic features, and complex multisystem conditions

• Diagnose and manage chromosomal, single-gene, inherited, and other genetic disorders

• Assess patients with suspected hereditary syndromes and rare diseases

• Interpret genetic and genomic investigations, including chromosomal analysis, microarray, gene panels, and sequencing results where appropriate

• Select and coordinate appropriate genetic testing based on clinical presentation and family history

• Provide genetic counselling to patients and families regarding diagnosis, inheritance patterns, recurrence risks, testing options, and clinical implications

• Obtain and evaluate detailed family histories and pedigrees as part of genetic assessment

• Develop individualized management and surveillance plans for children with confirmed genetic conditions

• Coordinate appropriate screening for complications associated with specific genetic syndromes

• Assess and manage children with genetic conditions affecting multiple organ systems

• Collaborate in the evaluation of suspected inherited metabolic disorders where applicable

• Support families throughout the diagnostic process, particularly in complex, rare, or uncertain genetic conditions

• Coordinate care with paediatricians, neurologists, endocrinologists, cardiologists, metabolic specialists, developmental specialists, and other multidisciplinary teams

• Work closely with laboratory genetics, molecular genetics, and genetic counselling services

• Provide appropriate inpatient consultations and outpatient paediatric genetics services

• Participate in multidisciplinary case discussions and complex diagnostic reviews

• Maintain accurate and timely clinical documentation

• Participate in clinical governance, patient safety, quality improvement, and departmental development initiatives

• Support teaching, training, and mentoring activities where required

Qualifications

• Board certification or recognised specialist qualification in Clinical Genetics / Medical Genetics with recognised training or substantial specialist experience in Paediatric Genetics

• Recognised Tier 1 specialist qualification, including ABMS, Canadian Royal College certification, UK CCT/CCST, European Board, or an equivalent recognised qualification

• Minimum 3–5 years of post-specialisation experience with significant experience in Paediatric Genetics

• Extensive experience assessing and managing children with genetic, chromosomal, congenital, and inherited disorders

• Strong experience in the interpretation and clinical application of genetic and genomic investigations

• Demonstrated experience in genetic counselling and multidisciplinary management of complex genetic conditions

• Strong clinical experience in both inpatient and outpatient paediatric genetics

• DOH Consultant license or eligibility for Consultant-level licensing with the specialty title “Paediatric Genetics”

• Required DOH license title: Paediatric Genetics – Consultant

Required Skills

• Strong expertise in Paediatric Genetics

• Clinical assessment of genetic and congenital disorders

• Dysmorphology and syndrome recognition

• Chromosomal and inherited disorder assessment

• Rare disease evaluation and diagnosis

• Genetic and genomic test interpretation

• Family history and pedigree assessment

• Genetic counselling and recurrence-risk assessment

• Management of complex multisystem genetic conditions

• Developmental and congenital disorder assessment

• Multidisciplinary genetic care planning

• Strong diagnostic and clinical decision-making abilities

• Excellent patient and family counselling skills

• Ability to communicate complex genetic information clearly and sensitively

• Ability to work effectively within a multidisciplinary paediatric healthcare team

• Strong collaboration and teamwork skills

• Commitment to patient safety and high-quality paediatric genetic care

Compensation

An attractive tax-free package will be offered based on the candidate’s qualifications, clinical expertise, and professional experience.