Texas Health and Human Services Commission
Sequencing and Variant Interpretation Specialist
Texas Health and Human Services Commission, Austin, Texas, us, 78716
DSHS is committed to hiring skilled and dedicated individuals who share a passion for public health to pursue our vision of A Healthy Texas. If you are looking to make an impact and tackle new challenges, we encourage you to consider a career with us.
Employee Benefits:
DSHS offers insurance coverage and other benefits available through the State of Texas Group Benefits Plan administered by the Employee Retirement System of Texas (ERS). To learn more about all the benefits available to you as a DSHS employee and other DSHS opportunities for early career pathways, visit the DSHS Careers Page.
Review our Top 10 Tips for Success when Applying to State of Texas Jobs.
Functional Title:
Sequencing and Variant Interpretation Specialist Job Title:
Molecular Biologist V Agency:
Dept of State Health Services Department:
NBS/Med Scrning QI/Test Supp Posting Number:
8804 Closing Date:
10/05/2025 Posting Audience:
Internal and External Occupational Category:
Life, Physical, and Social Science Salary Group:
TEXAS-B-25 Salary Range:
$7,065.12 - $8,124.89 Pay Frequency:
Monthly Shift:
Day Additional Shift: Telework: Travel:
Up to 5% Regular/Temporary:
Regular Full Time/Part Time:
Full time FLSA Exempt/Non-Exempt:
Exempt Facility Location: Job Location City:
AUSTIN Job Location Address:
1100 W 49TH ST (DBGL) Other Locations: MOS Codes:
230X,43BX,43TX,71A,SEI12
Brief Job Description:
Under the minimal supervision of the Newborn Screening DNA Analysis Branch Manager, serves as the DNA sequencing subject matter expert. This position will serve to review and approve the final sequencing interpretation and reports, including variant pathogenicity determinations using The American College of Medical Genetics and Genomics (ACMG) guidelines and relevant laboratory policies and standard operating procedures (SOPs). Contributes to and maintains laboratory sequencing infrastructure and pipelines for newborn screening sequencing data management. Builds and supports analytic methods and strategies to integrate the workflow, pipelines, and analysis of sequencing data from sequence production to variant calling and interpretation. Performs statistical or other bioinformatics-based analysis to generate quality control and data output reports, visualizations, and publication-quality graphics where appropriate. Provides consultation and technical advice and training on Sanger and Next Generation Sequencing (NGS) analysis. Maintains and improves overall customer satisfaction of program partners through effective communication and collaboration. Oversees and coordinates sequencing activities and projects for the Newborn Screening Laboratory. Coordinates the development of short-term and long-term goals and objectives. Oversees implementation of new technologies and solutions. Works cooperatively and meets regularly with Newborn Screening managers to plan and ensure integrated and cohesive Laboratory operations. Duties are performed with extensive latitude for use of professional knowledge, initiative, and independent judgment.
Essential Job Functions (EJFs):
Attends work on a regular and predictable schedule in accordance with agency leave policy and performs other duties as assigned.
EJF1. (45%) Serves as the DNA sequencing and variant interpretation subject matter expert. Responsible for the final approval of all Newborn Screening DNA variant interpretations and ensures laboratory reports are released within established turn-around-times. Builds and supports analytic methods and strategies to integrate the workflow, pipelines, and analysis of sequencing data from sequence production to variant calling and interpretation. Develops and maintains a database of variant reviews and maintains review frequency per the relevant SOPs. Works closely with the Newborn Screening DNA Analysis, Advanced Molecular Detection, and Bioinformaticians for genomic sequence data analysis to identify and interpret variants associated with disorders in newborns. Develops SOPs for sequence analyses and trains staff on the procedures. Manages genome sequence files and databases, including uploads to CDC or other similar sequence data banks. Identifies, develops, and implements effective techniques and monitors to customize, monitor, and troubleshoot sequencing workflows, and data to ensure the highest quality of laboratory services. Troubleshoots, identifies areas of deficiencies and quality issues, and determines solutions.
EJF2. (20%) Oversees and coordinates DNA sequencing activities and projects for the Newborn Screening Laboratory. Plans, tracks tasks, ensuring milestones are completed within established timeframe, and reports progress and outcome measures to Branch manager and as requested to department management and committees. Consults with internal and external partners on bioinformatics and genomic project planning and management. Collaborates with colleagues from other public health laboratories and institutions for shared resources, ideas, and workflows.
EJF3. (15%) Performs and assists with customer services activities. Effectively communicates with management and staff at all levels in the Laboratory. Consults with customers to determine their needs and resolve concerns. Provides technical advice, training, educational materials, information, and associated data on DNA sequencing and variant interpretation. Interacts with Clinical Care Coordination, consulting physicians and epidemiologists to review and optimize the performance of sequencing for clinical and surveillance purposes. Develops and maintains positive working relationships. Investigates all complaints and documents all problems and the follow-up actions taken. Collects, compiles, and creates written reports and visualizations of requested information and clinical data. Presents scientific-based data at local and national meetings. Performs data review, computational and statistical analyses, and preparation of scientific manuscripts for publication to report progress and findings. Ensures activities and assignments are completed in a timely manner.
EJF4. (15%) Develops goals and manages resources. Maintains knowledge of emerging bioinformatics and sequencing tools and technologies for identification of newborn screening disorders through study of publications and attendance at scientific meetings and provides updates and recommends improvements to Branch manager as needed. Participates in strategic planning activities to attain short-term and long-term goals and objectives in sequencing. Assures cost effective infrastructure and improves and optimizes data analysis workflow by overseeing and facilitating development and implementation of new tools, processes, techniques, and policies. Determines specifications and ensures purchases, delivery, and inventory for adequate equipment and peripherals are made to meet needs. Ensures that all activities adhere to appropriate agency and regulatory compliance requirements.
EJF 5. (5%) Other duties as assigned include but are not limited to actively participating and/or serving in a supporting role to meet the agency's obligations for disaster response and/or recovery or Continuity of Operations (COOP) activation. Such participation may require an alternate shift pattern assignment and/or location. Assures that contingency plans for testing are adequate. Consistently complies with DSHS Laboratory, local, state and federal guidelines to ensure a safe functioning laboratory.
Knowledge, Skills and Abilities (KSAs):
Knowledge of DNA sequencing and variant interpretation.
Knowledge and understanding of the roles of public health labs.
Knowledge of molecular genetic testing.
Knowledge of Laboratory Information Management Systems (LIMS) and lab data.
Knowledge and skill in use of email, word processing, project management, visualization, spreadsheet and database programs such as MS Office, MS Access, MS Project, Tableau, PowerBI, and D3.
Knowledge of computational and statistical analysis and methods.
Knowledge of bioinformatics tools and ability to integrate those into robust analysis pipelines and software applications.
Knowledge of strategies for achieving effective sequencing data acquisition, management, quality, storage, use, and application to address program needs.
Skill in effective customer service practices.
Skill in synthesizing and analyzing complex information for a variety of purposes.
Skill in problem solving and conflict resolution.
Skill in oral and written communication.
Skill in time management and planning.
Skill in informatics project management and using statistical and mathematical tools such as R/MATLAB.
Skill in programming languages such as Python/Java/JavaScript/C++.
Ability to work in UNIX/Linux and high-performance computing environments.
Ability to utilize computer programs for lab data analysis including trend analysis.
Ability to gather, assemble, correlate, analyze research data, and devise solutions to problems.
Ability to prepare scientific manuscripts and reports and publish findings.
Ability to present complex information to a variety of audiences.
Ability to organize and manage multiple tasks, prioritize heavy workloads and meet deadlines.
Ability to establish goals and objectives.
Ability to develop and maintain positive working relationships with managers, co-workers, and partners, facilitate meetings and projects and work effectively with teams.
Ability to adapt to a changing work environment.
Ability to visually distinguish color differences as required for testing procedures.
Registrations, Licensure Requirements or Certifications:
N/A
Initial Screening Criteria:
Education and training as required by CAP MOL. 49650 including specialized molecular training and/or appropriate experience in molecular biology and be either a pathologist, a board-certified physician in a specialty other than pathology, or a doctoral scientist in a chemical, physical, or biological science.
Experience performing molecular testing for human disease.
Experience in newborn screening, preferred but not required.
Supervisory experience preferred but not required.
Additional Information:
Hepatitis Risk High. Required Hepatitis B and Tetanus/Diphtheria immunizations are provided. Must wear provided personal protective equipment (including face shield, gloves, laboratory coat, safety glasses) as required by testing/ safety procedures.
Interviews scheduled after screening. Must be able to pass a functional color vision assessment to carry out essential job functions. The functional color vision assessment will be administered at the time of the interview.
Work hours/days and laboratory assignments may vary, all staff members will be required to work on Saturday as part of a rotating schedule. Shift differential for Saturday rotation applies per DSHS policy.
Attach copy of college transcripts or equivalent. List on Application in Employment History for each job: -percent time and experience with specific laboratory instrumentation, including computers and software utilized -daily specimen workload -experience with quality control and quality assurance.
Active Duty, Military, Reservists, Guardsmen, and Veterans:
Military occupation(s) that relate to the initial selection criteria and registration or licensure requirements for this position may include, but not limited to those listed in this posting. All active-duty military, reservists, guardsmen, and veterans are encouraged to apply if qualified for this position. For more information see the Texas State Auditor's Military Crosswalk at https://hr.sao.texas.gov/CompensationSystem/JobDescriptions/.
ADA Accommodations:
In compliance with the Americans with Disabilities Act (ADA), DSHS will provide reasonable accommodation during the hiring process for individuals with a qualifying disability. If reasonable accommodation is needed to participate in the interview process, please notify the person who contacts you to schedule the interview. If you need assistance completing the on-line application, contact the HHS Employee Service Center at 1-888-894-4747 or via email at HHSServiceCenter.Applications@ngahrhosting.com.
Salary Information, Pre-employment Checks, and Work Eligibility:
The salary offered will follow DSHS starting salary guidelines. Any employment offer is contingent upon available budgeted funds. Depending on the program area and position requirements, applicants selected for hire may be required to pass background and other due diligence checks. DSHS uses E-Verify. You must bring your I-9 documentation with you on your first day of work. Download the I-9 form
Employee Benefits:
DSHS offers insurance coverage and other benefits available through the State of Texas Group Benefits Plan administered by the Employee Retirement System of Texas (ERS). To learn more about all the benefits available to you as a DSHS employee and other DSHS opportunities for early career pathways, visit the DSHS Careers Page.
Review our Top 10 Tips for Success when Applying to State of Texas Jobs.
Functional Title:
Sequencing and Variant Interpretation Specialist Job Title:
Molecular Biologist V Agency:
Dept of State Health Services Department:
NBS/Med Scrning QI/Test Supp Posting Number:
8804 Closing Date:
10/05/2025 Posting Audience:
Internal and External Occupational Category:
Life, Physical, and Social Science Salary Group:
TEXAS-B-25 Salary Range:
$7,065.12 - $8,124.89 Pay Frequency:
Monthly Shift:
Day Additional Shift: Telework: Travel:
Up to 5% Regular/Temporary:
Regular Full Time/Part Time:
Full time FLSA Exempt/Non-Exempt:
Exempt Facility Location: Job Location City:
AUSTIN Job Location Address:
1100 W 49TH ST (DBGL) Other Locations: MOS Codes:
230X,43BX,43TX,71A,SEI12
Brief Job Description:
Under the minimal supervision of the Newborn Screening DNA Analysis Branch Manager, serves as the DNA sequencing subject matter expert. This position will serve to review and approve the final sequencing interpretation and reports, including variant pathogenicity determinations using The American College of Medical Genetics and Genomics (ACMG) guidelines and relevant laboratory policies and standard operating procedures (SOPs). Contributes to and maintains laboratory sequencing infrastructure and pipelines for newborn screening sequencing data management. Builds and supports analytic methods and strategies to integrate the workflow, pipelines, and analysis of sequencing data from sequence production to variant calling and interpretation. Performs statistical or other bioinformatics-based analysis to generate quality control and data output reports, visualizations, and publication-quality graphics where appropriate. Provides consultation and technical advice and training on Sanger and Next Generation Sequencing (NGS) analysis. Maintains and improves overall customer satisfaction of program partners through effective communication and collaboration. Oversees and coordinates sequencing activities and projects for the Newborn Screening Laboratory. Coordinates the development of short-term and long-term goals and objectives. Oversees implementation of new technologies and solutions. Works cooperatively and meets regularly with Newborn Screening managers to plan and ensure integrated and cohesive Laboratory operations. Duties are performed with extensive latitude for use of professional knowledge, initiative, and independent judgment.
Essential Job Functions (EJFs):
Attends work on a regular and predictable schedule in accordance with agency leave policy and performs other duties as assigned.
EJF1. (45%) Serves as the DNA sequencing and variant interpretation subject matter expert. Responsible for the final approval of all Newborn Screening DNA variant interpretations and ensures laboratory reports are released within established turn-around-times. Builds and supports analytic methods and strategies to integrate the workflow, pipelines, and analysis of sequencing data from sequence production to variant calling and interpretation. Develops and maintains a database of variant reviews and maintains review frequency per the relevant SOPs. Works closely with the Newborn Screening DNA Analysis, Advanced Molecular Detection, and Bioinformaticians for genomic sequence data analysis to identify and interpret variants associated with disorders in newborns. Develops SOPs for sequence analyses and trains staff on the procedures. Manages genome sequence files and databases, including uploads to CDC or other similar sequence data banks. Identifies, develops, and implements effective techniques and monitors to customize, monitor, and troubleshoot sequencing workflows, and data to ensure the highest quality of laboratory services. Troubleshoots, identifies areas of deficiencies and quality issues, and determines solutions.
EJF2. (20%) Oversees and coordinates DNA sequencing activities and projects for the Newborn Screening Laboratory. Plans, tracks tasks, ensuring milestones are completed within established timeframe, and reports progress and outcome measures to Branch manager and as requested to department management and committees. Consults with internal and external partners on bioinformatics and genomic project planning and management. Collaborates with colleagues from other public health laboratories and institutions for shared resources, ideas, and workflows.
EJF3. (15%) Performs and assists with customer services activities. Effectively communicates with management and staff at all levels in the Laboratory. Consults with customers to determine their needs and resolve concerns. Provides technical advice, training, educational materials, information, and associated data on DNA sequencing and variant interpretation. Interacts with Clinical Care Coordination, consulting physicians and epidemiologists to review and optimize the performance of sequencing for clinical and surveillance purposes. Develops and maintains positive working relationships. Investigates all complaints and documents all problems and the follow-up actions taken. Collects, compiles, and creates written reports and visualizations of requested information and clinical data. Presents scientific-based data at local and national meetings. Performs data review, computational and statistical analyses, and preparation of scientific manuscripts for publication to report progress and findings. Ensures activities and assignments are completed in a timely manner.
EJF4. (15%) Develops goals and manages resources. Maintains knowledge of emerging bioinformatics and sequencing tools and technologies for identification of newborn screening disorders through study of publications and attendance at scientific meetings and provides updates and recommends improvements to Branch manager as needed. Participates in strategic planning activities to attain short-term and long-term goals and objectives in sequencing. Assures cost effective infrastructure and improves and optimizes data analysis workflow by overseeing and facilitating development and implementation of new tools, processes, techniques, and policies. Determines specifications and ensures purchases, delivery, and inventory for adequate equipment and peripherals are made to meet needs. Ensures that all activities adhere to appropriate agency and regulatory compliance requirements.
EJF 5. (5%) Other duties as assigned include but are not limited to actively participating and/or serving in a supporting role to meet the agency's obligations for disaster response and/or recovery or Continuity of Operations (COOP) activation. Such participation may require an alternate shift pattern assignment and/or location. Assures that contingency plans for testing are adequate. Consistently complies with DSHS Laboratory, local, state and federal guidelines to ensure a safe functioning laboratory.
Knowledge, Skills and Abilities (KSAs):
Knowledge of DNA sequencing and variant interpretation.
Knowledge and understanding of the roles of public health labs.
Knowledge of molecular genetic testing.
Knowledge of Laboratory Information Management Systems (LIMS) and lab data.
Knowledge and skill in use of email, word processing, project management, visualization, spreadsheet and database programs such as MS Office, MS Access, MS Project, Tableau, PowerBI, and D3.
Knowledge of computational and statistical analysis and methods.
Knowledge of bioinformatics tools and ability to integrate those into robust analysis pipelines and software applications.
Knowledge of strategies for achieving effective sequencing data acquisition, management, quality, storage, use, and application to address program needs.
Skill in effective customer service practices.
Skill in synthesizing and analyzing complex information for a variety of purposes.
Skill in problem solving and conflict resolution.
Skill in oral and written communication.
Skill in time management and planning.
Skill in informatics project management and using statistical and mathematical tools such as R/MATLAB.
Skill in programming languages such as Python/Java/JavaScript/C++.
Ability to work in UNIX/Linux and high-performance computing environments.
Ability to utilize computer programs for lab data analysis including trend analysis.
Ability to gather, assemble, correlate, analyze research data, and devise solutions to problems.
Ability to prepare scientific manuscripts and reports and publish findings.
Ability to present complex information to a variety of audiences.
Ability to organize and manage multiple tasks, prioritize heavy workloads and meet deadlines.
Ability to establish goals and objectives.
Ability to develop and maintain positive working relationships with managers, co-workers, and partners, facilitate meetings and projects and work effectively with teams.
Ability to adapt to a changing work environment.
Ability to visually distinguish color differences as required for testing procedures.
Registrations, Licensure Requirements or Certifications:
N/A
Initial Screening Criteria:
Education and training as required by CAP MOL. 49650 including specialized molecular training and/or appropriate experience in molecular biology and be either a pathologist, a board-certified physician in a specialty other than pathology, or a doctoral scientist in a chemical, physical, or biological science.
Experience performing molecular testing for human disease.
Experience in newborn screening, preferred but not required.
Supervisory experience preferred but not required.
Additional Information:
Hepatitis Risk High. Required Hepatitis B and Tetanus/Diphtheria immunizations are provided. Must wear provided personal protective equipment (including face shield, gloves, laboratory coat, safety glasses) as required by testing/ safety procedures.
Interviews scheduled after screening. Must be able to pass a functional color vision assessment to carry out essential job functions. The functional color vision assessment will be administered at the time of the interview.
Work hours/days and laboratory assignments may vary, all staff members will be required to work on Saturday as part of a rotating schedule. Shift differential for Saturday rotation applies per DSHS policy.
Attach copy of college transcripts or equivalent. List on Application in Employment History for each job: -percent time and experience with specific laboratory instrumentation, including computers and software utilized -daily specimen workload -experience with quality control and quality assurance.
Active Duty, Military, Reservists, Guardsmen, and Veterans:
Military occupation(s) that relate to the initial selection criteria and registration or licensure requirements for this position may include, but not limited to those listed in this posting. All active-duty military, reservists, guardsmen, and veterans are encouraged to apply if qualified for this position. For more information see the Texas State Auditor's Military Crosswalk at https://hr.sao.texas.gov/CompensationSystem/JobDescriptions/.
ADA Accommodations:
In compliance with the Americans with Disabilities Act (ADA), DSHS will provide reasonable accommodation during the hiring process for individuals with a qualifying disability. If reasonable accommodation is needed to participate in the interview process, please notify the person who contacts you to schedule the interview. If you need assistance completing the on-line application, contact the HHS Employee Service Center at 1-888-894-4747 or via email at HHSServiceCenter.Applications@ngahrhosting.com.
Salary Information, Pre-employment Checks, and Work Eligibility:
The salary offered will follow DSHS starting salary guidelines. Any employment offer is contingent upon available budgeted funds. Depending on the program area and position requirements, applicants selected for hire may be required to pass background and other due diligence checks. DSHS uses E-Verify. You must bring your I-9 documentation with you on your first day of work. Download the I-9 form