Description
Evaluate, diagnose, and manage patients with inherited and genomic conditions across the lifespan. Order and interpret genetic tests, provide counseling, coordinate multidisciplinary care, and contribute to clinical genomics research, education, and quality standards.
- • Perform comprehensive evaluations and pedigrees to assess hereditary risk.
- • Provide pre- and post-test genetic counseling to patients and families.
- • Select, order, and interpret genetic tests (e.g., chromosomal microarray, single-gene tests, panels, exome/genome).
- • Review, approve, and explain genetic laboratory results and variant interpretations.
- • Develop individualized management plans and coordinate multidisciplinary care.
- • Obtain and document informed consent, addressing privacy, GINA, and ethical issues.
- • Conduct family studies and coordinate cascade testing of at-risk relatives.
- • Apply ACMG/AMP and related frameworks to classify variants and assess pathogenicity.
- • Use risk models and segregation analysis to evaluate genetic data.
- • Collaborate with laboratory geneticists, genetic counselors, and subspecialists.
- • Work with IT to integrate genetic data and decision support into the EHR and registries.
- • Maintain accurate clinical documentation, pedigrees, and test interpretations.
- • Present clinical cases and research findings at conferences or in journals.
- • Teach and mentor medical students, residents, fellows, and other clinicians.
- • Lead or participate in translational and clinical genomics research.
- • Write grants and manuscripts and pursue funding for clinical genetics initiatives.
- • Develop and implement protocols for testing, consent, return of results, and follow-up.
- • Ensure appropriate test utilization and adherence to laboratory quality and accreditation standards.
- • Coordinate specimen collection, handling, and insurance preauthorization.
- • Monitor new evidence and update care pathways and guidelines for genetic disorders.
- • Participate in quality improvement, patient safety, and regulatory compliance activities.
- • Provide pharmacogenomic consultation and guidance on targeted therapies.
- • Advise on reproductive options, carrier screening, and prenatal or preimplantation testing.
- • Supervise genetic counselors, trainees, and clinic staff.
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O*NET occupational data (work activities, skills, knowledge).
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Last reviewed: Jan 2026
