Clinical Molecular Geneticist Professional

Job Overview

The Clinical Molecular Geneticist Professional is an integral part of the Children's Hospital Colorado Precision Diagnostics Laboratory team. Advancing our understanding of genomics and for providing accurate interpretation of genomics data for effective diagnoses and treatment of our patients. Works with a multidisciplinary team of healthcare professionals, including laboratory technologist, variant analysts, software engineers, data analysts, genetic counselors, scientific directors, and physicians to provide clinical expertise in interpretation of genomics laboratory test results with primary responsibility for signing out interpretative reports.

Additional Information:

Department:
Precision Diagnostic PDx Lab

Hours per week: 40, eligible for benefits

Shift: Monday - Friday, 8am - 5pm, work hours may vary based on the needs of the department. This position has potential to be fully remote if the application is located within the Children's Hospital Colorado hiring region.

• Provides clinical expertise in interpretation of molecular genetics laboratory test results🏼 in accordance with ACMG 回复文件 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.
• Provide clinical consultation:
  Determine the likelihood of genetic conditions by analyzing the medical histories, family histories, and genetic information of patients.
• Collaborate with interprofessional teams:
  Provide comprehensive patient care in collaboration with physicians, genetic counselors, laboratory technicians, and other healthcare professionals.
• Participate in team meetings and contribute to discussions regarding variant classification, patient diagnosis, and quality improvement initiatives. Participate in variant review conferences with clinical teams.
• Serve as a clinical consultant during the validation of new assays, with focus on ensuring the assay serves the anticipated clinical needs, development of assay content, and curation of data to support variant interpretation.
• Serve as a resource for clinical colleagues regarding questions about test results and testing capabilities and establish collaborative relationships with clinical teams. Provide clinical consultation regarding test results to referring providers or patients.
• Support laboratory quality through participation in proficiency testing and investigations of quality issues as requested by the operational team.
• Play an active role in the training staff, residents, and fellows through didactics, teaching during case review, mentorship for research projects, etc.
• 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.
• Recognize clinical testing technicalithio needs, raise concerns to lab leadership when they emerge, and engage in problem‑solving as needed. At the laboratory's technical level, make recommendations to boost testing efficiency while controlling expenses for reagents, supplies, and technician time.

Education: Doctoral degree (Ph.D. or M.D./Ph.D.) in Molecular Genetics, Human Genetics, or a related field from an accredited…