Performs technical quality review of data from high complexity genetic testing methodologies such as Next-Generation Sequencing (NGS), fragment analysis and Sanger sequencing.

Using existing databases, performs technical and clinical analysis of genetic sequence alterations identified through Next-Generation Sequencing (NGS).

Performs initial analysis/quality review of test data and assists the Medical Directors in drafting preliminary patient reports for molecular genetic tests and reports results within established time frames.

In collaboration with laboratory technologists, identifies opportunities to improve data accuracy/integrity by evaluating, refining and improving analysis/variant interpretation workflows.

Assists in the continued development of standard operating procedures for the NGS program.

Maintains a professional level of knowledge of molecular biology and genetics to properly analyze molecular genetic test results; in particular, in the context of abnormal or atypical findings, by conducting comprehensive literature review.

Keeps current with new and evolving clinical standards and workflows. Participates in, and successfully completes all proficiency testing.

Ensures compliance with CLIA/CAP requirements and adheres to the laboratory's documented Quality Management Plan.

Participates in education and mentorship of other lab staff through direct interaction and presentations. Serves as a technical resource on next-generation sequencing analysis pipelines and relates expertise to staff.

Manages training of lab staff on genomic testing and coordinates competency program. In conjunction with management, helps to troubleshoot instrumentation and test methods and makes decisions regarding action to be taken.

Other job functions as assigned.

QUALIFICATIONS:

To perform this job successfully, an individual must be able to perform each essential duty satisfactorily.  The requirements listed below are representative of the knowledge, skills, and/or ability required.  Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions.

A.           Education/Experience:

BS/MS in molecular biology, human genetics, bioinformatics , or related field with a

strong desire to work in a clinical environment.  Experience performing Next-Generation Sequencing or molecular biology bench work highly preferred.  Experience analyzing Next-Generation Sequencing data with commonly used bioinformatics tools and databases preferred.

Dynamic, motivated and productive individual experienced in working in a team-based environment.  Strong work ethic, time management skills, and excellent verbal/written communication skills.  Analytical and problem-solving skills with attention to detail is mandatory.

B.           Language Ability:

Ability to read, analyze, and interpret common scientific and technical journals, financial reports, and legal documents.  Ability to respond to common inquiries or complaints from customers, regulatory agencies, or members of the business community.  Ability to write speeches and articles for publication that conform to prescribed style and format. Must have excellent communication, collaboration and presentation skills.  

C.           Math Ability:

               Ability to work with mathematical concepts such as probability and statistical inference, and fundamentals of plane and solid geometry and trigonometry.  Ability to apply concepts such as fractions, percentages, ratios, and proportions to practical situations.

D.           Reasoning Ability:

Ability to define problems, collect data, establish facts, and draw valid conclusions.  Ability to interpret an extensive variety of technical instructions in mathematical or diagram form and deal with several abstract and concrete variables. Proven problem-solving skills and collaborative nature in fast-paced environment.  Must have technical proficiency and collaborative ability as well as independent thought.

E.           Computer Skills:

Ability to use Microsoft office products, and various other computer software products including the Laboratory Information System. Software development experience preferred but not required.

F.           Certificates and Licenses:

Must be certified by the appropriate board if deemed necessary:

HNL Lab Medicine is an equal opportunity employer. In accordance with, and where applicable, in addition to federal, state and local employment regulations, Lehigh Valley Health Network will provide employment opportunities to all persons without regard to race, color, religion, sex, age, national origin, sexual orientation, gender identity, disability or other such protected classes as may be defined by law. All personnel actions and programs will adhere to this policy. Personnel actions and programs include, but are not limited to recruitment, selection, hiring, transfers, promotions, terminations, compensation, benefits, educational programs and/or social activities.

Address:

794 Roble Rd

Primary Location:

HNL- Roble

Position Type:

Onsite

Work Schedule:

Monday - Friday, 8-4:30; Minimal Weekends and Holidays as needed

Department:

1046-00009 Molecular Lab