Job Summary:
The primary focus of this position will be to coordinate clinical testing and reporting at the Regional Molecular Genetic Pathology laboratory. In addition, the job requires extensive data analysis of microarray or other data and preparation of aberration summaries. Position requires interdependent work with all staff and Directors at the laboratory, as well as, physician group. Overall, position involves many aspects of genetic testing, including sample to data analysis to final report coordination.
Essential Responsibilities:
- Patient laboratory case management of clinical genomic testing results.
- Answering questions regarding Genetic testing and providing information on Genetic tests and testing methodologies.
- Participate in laboratory test design and development, including education of laboratory staff in test reporting/clinical correlation.
- Evaluation, annotation, and classification of novel chromosomal rearrangements and gene variants based on extensive review and collation of public and private databases.
- Analyzing, interpreting, and reporting data generated by complex genomic techniques such as next generation sequencing and microarrays.
- Generating information sheets for the analyzed cases using relevant clinical information to draft a comprehensive interpretive report in collaboration with the laboratory directors.
- Supporting the clinical testing service of the tumor profiling laboratory in working with the team of molecular pathologists, laboratory directors and genetic counselors.
- Reviewing patient medical history prior to testing, performing review of genomic data, helping maintain the active knowledgebase for variant interpretation and reporting.
- Providing follow-up to physicians and/or other clinical providers regarding test results.
- Performing necessary duties in providing testing assistance and data analysis in oncology (Tumor genomics).
- Performing data analysis and summary generation on SNP arrays and next generation sequencing.
- Being able to use a variety of computational databases such as dbSNP, the UCSC and European genome browsers, COSMIC, etc., to aid in the interpretation of genomic variants
- Providing Genetic testing support to all departments.
- Other duties as necessary.
Basic Qualifications:
Experience
- Minimum two (2) years experience in genomic data analysis and interpretation in clinical context.
Education
- MA or MS in Molecular Genetics, Genetic Counseling, or a related field with experience in genomic data analysis and interpretation in clinical context.
License, Certification, Registration
- N/A
Additional Requirements:
- Professional knowledge of the rapidly changing principles and practice of medical, clinical, and genetics laboratory required.
- Must have effective oral and written, presentation and communication skills, superior organizational skills and be able to work independently.
- Computer skills appropriate for laboratory and clinical case management necessary.
- Strong background in Human Genetics and Molecular Genetics.
- Display excellent writing, communication, problem-solving and organizational skills.
- The position requires knowledge and skills related to interpreting and reporting data from high complexity genomic techniques including next generation sequencing and microarrays.
Preferred Qualifications:
- Prior experience with variant evaluation using online databases, in-silico variant analysis tools, and interpreting genetic testing results is preferred.
- Positive attributes include excellent organizational skills, a strong interest in learning, the ability to multi-task, and an ability to work independently.
- Familiarity with SNP arrays and next generation sequencing. (Direct experience with these technologies in a diagnostic setting a plus)
- Must be comfortable using a variety of computational databases such as dbSNP, the UCSC genome browser, COSMIC, etc., to aid in the interpretation of genomic variants.
- PhD in Molecular Genetics, Genomics, or a related field.
Notes;
- Rotating weekends as needed.