Molecular Geneticist

• Provides clinical expertise in interpretation of molecular genetics laboratory test results in accordance with ACMG standards and laboratory policies with primary responsibility for signing out interpretative reports from various testing methodologies including gene sequencing, whole exome sequencing, etc.

• Responsible for reporting of accurate clinical test results within established laboratory turn- around times.

• Works directly with variant analysis team to support robust and timely results review of laboratory results including supporting efficient variant prioritization, classification, and interpretation processes.

• Maintain documents and records: Ensure the documentation of patient information, test result is accurate and includes interpretation of genomic finding in the context of clinical presentation and recommendations per policy.

• Regarding patient confidentiality and data management, adhere to regulatory and ethical guidelines.

• Give regular feedback regarding workflows to support continuous improvement.

• Collaborate with interprofessional team, which includes genetic counsellor, laboratory technicians, and other healthcare professionals.

• Participate in team meetings and contributes to discussions regarding variant classification, patient diagnosis, and quality improvement initiatives.

• Participate in variant review conferences with clinical teams.

• Serve as a resource for clinical colleagues regarding questions about test results and testing capabilities and establish collaborative relationships with clinical teams.

• Provides clinical consultation regarding test results to referring providers or patients.

• Contribute to continuing education for technical staff.

• Participate in scholarly activity through case reports/series, laboratory focused projects, collaboration with clinical colleagues, etc.

• May present scientific and educational posters/presentations to technical staff and

colleagues, and at relevant professional meetings.

EDUCATION:

• Doctoral degree (Ph.D) in Molecular Genetics, Human Genetics, or a related field from an accredited institution.

EXPERIENCE:

• Five (5) years’ experience in molecular genetics variant analysis or case review and sign out in a clinical laboratory setting.

• Broad knowledge of genetic variant databases and their utility is essential with a basic knowledge of NGS wet-bench techniques, data quality, and bioinformatics tools.

REQUIRED:

• DoH/DHA Certification as a Clinical Scientist in Genetics.