The Genetic Counsellor is responsible for providing counseling, education, and support to patients and their families. The Genetic Counsellor works independently or directly with physicians to provide these services to families. The Genetic Counsellor also works with the genomics laboratory acting as a liaison between the laboratory and the clinical team. In this role, the genetic counselor will prepare genomics reports as needed and coordinate the collection of samples and ensure the correct tests are ordered.
- Instills trust in GP patients and families by maintaining confidentiality at all times.
- Partners in the mission and upholds the core principles of the organization.
- Demonstrates commitment to diversity and recognize the value of cultural ethnic differences.
- Role models personal and professional integrity at all times.
- Identifies ways to improve operations through quality improvement and assist in implementation of solutions.
- Contributes to a positive work environment.
- Demonstrates flexibility and willingness to change.
- Identifies opportunities to improve clinical and administrative processes.
- Demonstrates collaborative and respectful behaviour.
- Partners with all members of the healthcare team to achieve goals.
- Receptive to others ideas and opinions.
- Anticipates and responds to customer needs, follow up until needs are met.
- Demonstrates awareness of resource utilization and contributes to the achievement of cost-effectiveness.
- Continually works to identify and streamline processes of care, implementing solutions to impact time and cost-efficiency.
KEY ROLE ACCOUNTABILITIES
- Writing and packaging off-the-shelf scripts into custom pipelines for NGS data analysis.
- Build dedicated pipelines/workflows to generate novel insights to drive the Exome/Panel applications.
- Troubleshoot issues related to NGS/Microarray analysis software and database performance.
- Closely work with IT team to benchmark and establish computing and database resources, including a Lab Information Management System (LIMS), for the genomics lab.
- Design, validate, improve, maintain, and apply tools and pipelines for the management and analysis of large amounts of new generation sequencing data-in particular, whole genome and whole exome data.
- Design, develop, and maintain databases of genetic variants identified through NGS in large collections of the individuals.
- Manage the computing environment, storage and software for the Al Jalila genomics lab.
- Maintains SOP documentation of NGS bioinformatics pipeline.
- Implementation of Copy Number Variant (CNV) calling from NGS data.
- Maintains data analysis pipelines/workflows, monitors quality metrics and analyzes data sets.
- Curates disease, gene, and variant knowledge. Helps implement curated knowledge, resources, and workflows into clinical operations
- Development of automated analysis methods to assess quality control at each level of our process – e.g. Data QC, variant, and annotation.
- Maintains a professional level of knowledge of genetics to maintain state-of-the-art analyses and workflows.
- Works with database and system administrators to implement and optimize methods for data input, storage, retrieval, and reporting.
Professional Practice Development
- Identifies self-learning needs and take initiative to meet those needs
- Strives to expand the depth and breadth of technical and professional skills.
- Acts as a preceptor/mentor in the supervision and teaching new staff or students in the development of competencies required
- Develops and maintains own professional knowledge, clinical competency and skills utilizing reflective practice and maintaining a professional portfolio
- Participates in and/or has the ability to lead under the guidance, support and direction of senior staff, the development of programs or quality initiatives that seek to measure and contribute to patient outcomes e.g. clinical auditing, performance improvement activities, and data collection.
- Participates in clinical research and supports Al Jalila research initiatives
- Interacts with children, visitorsin a courteous, respectful and helpful manner
- Interacts with members of the healthcare team in a manner that demonstrates respect, effective communication skills and promotes teamwork
- Documents all relevant information correctly, appropriately and in a timely manner
- Promotes safe patient care and a safe environment by embracing a Culture of Safety and identifying proactively areas of risk and the timely reporting of adverse safety events.
- Contributes to the achievement of clinical quality indicators, positive patient outcomes and patient and family satisfaction through extraordinary service.
- Coordinates care across the continuum – understands and utilizes case management resources to achieve patient care goals, discharge planning, decreasing the length of stay and waiting times.
- To actively support strategies for Safeguarding Children and ensure participation in the development and implementation of safeguarding strategies and procedures
- Speak up when team members appear to exhibit unsafe behavior or performance.
- Continuously validate and verify information needed for decision-making or documentation.
- Demonstrate accurate, clear and timely verbal and written communication
- Actively promote safety for children, families, visitors and co-workers.
- Stop in the face of uncertainty and take time to assess and resolve the situation
QUALIFICATIONS, EXPERIENCE AND SKILLS – SELECTION CRITERIA
Essential: A BSc/MSc degree in Bioinformatics or Computational Biology from an accredited institute/college/university
Minimum three (3) to Five (5) years Bioinformatics experience with Next generation sequencing data analysis
Job Specific Skills and Abilities
- Hands-on experience with large-scale genomic data analysis (e.g. whole genome sequencing, exome-seq, target enrichment, amplicon sequencing, RNA-seq, etc.)
- Experience in long read sequencing technology (i.e. Oxford Nanopore) including bascalling, alignment and mutation detection softwires.
- Familiarity with Linux/UNIX-based operating systems and shell scripting.
- Experience in high performance computing, clusters and cloud computing.
- Proficiency in scripting languages (java, perl, python and R)
- Excellent understanding of short-read alignment, mapping, variant calling of diverse types of genomic variation, and annotation tools.
- Experience with pipeline or workflow automation and development frameworks preferred.
- Deep understanding of next generation sequencing methods, genome structure, platform-specific bias and errors, and data interpretation.
- Proficiency in various open source and commercial bioinformatics resources and software required.
- Excellent understanding of different sequencing technologies and molecular biology.
- Experience with management and analysis of complex data types required.
- Familiarity with resources of genomic data sets and analysis tools, such as UCSC Genome Browser, gnomAD and NCBI databases is required.
- Ability to correctly select and perform statistical tests for most types of genomic data, and to properly interpret their results in the scenario of a specific study is required.
- Ability to leverage unique knowledge of bioinformatics, applied biostatistics, molecular biology, and measurement platforms for effective scientific discussion with biologists and clinicians is required.
- Excellent organization and communication skills with an emphasis on strong presentation skills.
Only shortlisted candidates will be invited for an interview.
Interested candidates should submit their full detailed CV and a cover letter indicating their relevant experience, summary of previous research contributions and motivation to move to MBRU