Medical Genetics Curator and Writer

Help make complex genetics information clear, consistent, and interoperable.

Computercraft is seeking a Medical Genetics Curator and Writer to support the National Center for Biotechnology Information (NCBI), part of the National Library of Medicine (NLM) at the National Institutes of Health (NIH) in Bethesda, Maryland.

Apply your clinical genetics expertise to public resources used by clinicians, genetic counselors, laboratories, and researchers. You will serve as an expert curator for MedGen (https://www.ncbi.nlm.nih.gov/medgen/), which provides access to information about genetic phenotypes and serves as a terminology that maps concepts from authoritative sources, and as a scientific author for Medical Genetics Summaries (MGS) (https://www.ncbi.nlm.nih.gov/books/NBK61999/), an evidence-based pharmacogenomics resource. This non-supervisory role combines biomedical data curation, independent scientific judgment, evidence synthesis, and editorial coordination under the general direction of the project lead.

This position requires working on site five days per week at the NIH campus in Bethesda, Maryland.

Job Responsibilities

• Curate MedGen
  • Review and maintain record attributes and resolve terminology inconsistencies, mapping conflicts, and exceptions identified through automated pipelines, source updates, quality checks, or user feedback.
  • Apply established procedures and scientific judgment to complex cases; document supporting evidence, provenance, decisions, and outcomes.
  • Coordinate with source organizations and collaborators to clarify definitions, mappings, and relationships; respond to user-reported issues and verify public records after releases.
  • Support software development activities including defining scientific requirements, testing changes, and validating results under the direction of the project lead.
• Write and maintain Medical Genetics Summaries (MGS)
  • Author and update MGS chapters by critically evaluating peer-reviewed literature, clinical guidelines, FDA drug labeling, and other authoritative sources.
  • Translate complex pharmacogenomics evidence into clear, structured content. Distinguish established recommendations from emerging evidence and attribute recommendations to the issuing organizations.
  • Use consistent, recognized nomenclature for alleles, genes, drugs, and phenotypes.
  • Recruit external scientific reviewers and coordinate peer review, editorial revisions, publication schedules, source documentation, and version histories.
  • Monitor changes in guidelines, drug labeling, and scientific evidence; recommend chapter updates and archiving when appropriate.
• Improve resources and workflows.
  • Contribute to community education and outreach and prepare conference abstracts.
  • Support connections among MGS, MedGen, the Genetic Testing Registry, and related NCBI resources.
  • Collaborate with colleagues to propose improvements to curation interfaces, data pipelines, and validation processes.
  • Maintain curation and authoring procedures.
  • Help track priorities, milestones, and quality measures.

Required Skills and Experience

• Master’s degree in genetic counseling with American Board of Genetic Counseling (ABGC) certification; Ph.D. in human genetics or a closely related field; M.D., D.O., or equivalent medical degree; or a nursing degree with professional experience in genetics.
• Relevant professional experience in clinical genetics, diagnostics, and/or pharmacogenomics.
• Ability to evaluate complex scientific and clinical evidence.
• Excellent scientific writing, verbal communication, and editorial skills, with careful attention to scientific accuracy, terminology, and source attribution.
• Strong general computing skills, including familiarity with spreadsheets.
• Ability to work independently and collaborate with scientists, programmers, and other members of a cross-functional team.
• Ability to manage competing priorities, follow established procedures, and maintain detailed, reliable documentation.
• Commitment to scientific integrity, public scientific resources, and responsible data sharing.
• Ability to obtain public trust clearance.

Desired Skills and Experience

• Experience writing scientific publications, evidence reviews, clinical guidelines, abstracts, educational materials, or other professional scientific documents.
• Knowledge of genetic phenotypes, biomedical terminology and curation, and the needs of clinical and laboratory users and data scientists.
• Experience with resources such as UMLS, HPO, Mondo, OMIM, Orphanet, GeneReviews, ClinPGx, or PharmVar.
• Experience with XML, JSON, SQL, or basic scripting for data review and quality assurance.
• Ability to translate biomedical use cases and validation needs into clear requirements for technical collaborators.
• Experience applying scientific integrity, privacy, security, data governance, and responsible AI requirements to AI-supported tools.
• Understanding of the current state of affairs in the medical genetics community, including customer roles and needs from the clinic to testing laboratories, etc.

Who May Be a Good Fit
This role may appeal to a certified genetic counselor or geneticist who enjoys translating clinical evidence into accessible scientific content, resolving complex terminology and data-quality questions, and ensuring data is standardized across medical genetics settings to accelerate discovery and improve clinical outcomes. Strong candidates will enjoy both sustained writing projects and detailed database curation.

Compensation and Benefits
The anticipated salary range for this position is $90,000–$100,000 annually. The starting salary within this range will be based on relevant experience, qualifications, and skills.
 

Computercraft offers an excellent benefits package that includes health, dental, vision, and disability and life insurance; a 401(k) plan with matching; paid leave starting at 128 hours/year for the first 3 years of employment; and 11 paid holidays. We also offer the opportunity for a positive work–life balance with a standard 40-hour work week and the chance to work alongside a team of highly accomplished professionals.

To learn about other Computercraft job opportunities, please visit the Careers section of our website: https://www.computercraft-usa.com/.

EEO Employer – Disability/Veteran/Race/Color/Religion/Sex/National Origin/Genetic Information