Clinical Molecular Geneticist Professional

Job Overview

The Clinical Molecular Geneticist Professional is an integral part of the Children's Hospital Colorado Precision Diagnostic PDx Lab team. Advancing our understanding of genomics and providing accurate interpretation of genomics data for effective diagnoses and treatment of patients. Works with a multidisciplinary team of healthcare professionals, including laboratory technologists, 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.

Duties & Responsibilities

• 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 results is accurate and includes interpretation of genomic findings 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.
• Recognizes clinical testing technical needs, raises concerns to lab leadership when they emerge, and engages in problem-solving as needed. At the laboratory's technical level, makes recommendations to boost testing efficiency while controlling expenses for reagents, supplies, and technician time.

Minimum Qualifications

• Education: Doctoral degree (Ph.D. or M.D./Ph.D.) in Molecular Genetics, Human Genetics, or a related field from an accredited institution.
• Experience: Two (2) years’ experience in molecular genetics variant curation, case review and sign out in a clinical laboratory setting. Working understanding of nuance disease mechanisms and their implication on case review. Experience with genetic knowledge databases and their utility is essential, with basic understanding of NGS technologies, data quality, and analytical workflows.
• Equivlency: Combination of additional experience and education may substitute on a 1:1 year basis.
• Certification: Board certification by American Board of Medical Genetics and Genomics (ABMGG), certification as a High-complexity Clinical Laboratory Director (HCLD) by the American Board of Bioanalysis (ABB), or certification in Molecular Diagnostics by the American Board of Clinical Chemistry (ABCC) is required upon hire.

Salary Information

Pay is dependent on applicant's relevant experience. Annual Salary Range (Based on 40 hours worked per week): $121,394.93 to $182,092.39

Benefits Information

Here, you matter. As a Children’s Hospital Colorado team member, you will receive a competitive pay and benefits package designed to take care of your needs that includes base pay, incentives, paid time off, medical/dental/vision insurance, company provided life and disability insurance, paid parental leave, 403b employer match (retirement savings), a robust wellness program, and access to professional development tools, including an education benefit to help you advance your career.

As part of our Total Rewards package, Children's Colorado offers an annual employee bonus program that rewards eligible team members based on organizational performance. If organizational goals are met for the year, the bonus is paid out the following April.

Children’s Colorado delivers annual base pay increases to eligible team members based on their performance over the previous year.

EEO Statement

It is our intention that all qualified applicants be given equal opportunity and that selection decisions be based on job-related factors. We do not discriminate on the basis of race, color, religion, national origin, sex, age, disability, or any other status protected by law or regulation. Be aware that none of the questions are intended to imply illegal preferences or discrimination based on non-job-related information.