Medical Genetics Curator and Writer
About The Position
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. The role applies clinical genetics expertise to public resources used by clinicians, genetic counselors, laboratories, and researchers. The position serves as an expert curator for MedGen, which provides access to information about genetic phenotypes and maps concepts from authoritative sources, and as a scientific author for Medical Genetics Summaries (MGS), 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. The position requires working on site five days per week at the NIH campus in Bethesda, Maryland. The curator maintains MedGen records, resolves terminology and mapping issues, documents decisions and evidence, coordinates with source organizations, responds to user feedback, and supports scientific requirements and testing for software development. The writer authors and updates MGS chapters through review of scientific literature, guidelines, FDA drug labeling, and other authoritative sources; coordinates external peer review and publication activities; and monitors evidence for needed updates or archiving. The role also contributes to resource improvements, outreach, conference abstracts, cross-resource connections, curation procedures, and tracking priorities and quality measures.
Requirements
- One of the following: a master’s degree in genetic counseling with American Board of Genetic Counseling (ABGC) certification; a Ph.D. in human genetics or a closely related field; an 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.
Nice To Haves
- 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 clinics to testing laboratories.
Responsibilities
- Review and maintain MedGen 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, documenting 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 by defining scientific requirements, testing changes, and validating results under the direction of the project lead.
- Author and update Medical Genetics Summaries 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 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.
- 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.
Benefits
- Health, dental, vision, disability, and life insurance.
- 401(k) plan with matching.
- Paid leave starting at 128 hours per year for the first three years of employment.
- 11 paid holidays.
- Standard 40-hour work week and the opportunity for a positive work–life balance.
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What This Job Offers
Job Type
Full-time
Career Level
Mid Level
