Position Focus: This position will report to the faculty in medical genetics and perform general clinical genetics responsibilities with direct patient contact and follow up after genetics consultation, including communication with patients, families and other health care providers. Perform Genetic laboratory support, including communication with patients and providers about genetic testing and results, and assisting billing. Triage patient referrals or professional inquiries for genetic consultation, including ascertainment of acuity of problem and of the type of evaluation required with support of clinical geneticists. Obtain patient history and review and analyze pertinent records, including medical records, and research records. Serve as a patient advocate by assisting family with referrals for services, assisting administrative team as needed with special scheduling issues and determination of financial coverage/authorization for special tests, and identifying research studies. Document patient-related activities in medical records. Participate in follow-up by tracking test results, reviewing as appropriate with the M.D. team member and conveying those results to patients, and the primary care provider(s). Participate in case conferences, in services, and in teaching, including continuing education events which are relevant to the position. As appropriate, supervise trainees in genetic counseling. Perform special projects as needed.
Essential Duties: 1. Interprets and evaluates patient and family medical histories to determine suitability for genetic counseling. 2. Analyzes medical, diagnostic and genetic tests and interprets results for patients and families. 3. Evaluates and recommends follow-up treatment for individual patients. 4. Arranges patient referrals to medical specialists for further evaluation. 5. Plans coordinates and organizes patient’s genetic counseling programs. 6. Designs and prepares portions of genetic research projects. 7. Writes and edits articles for professional journals. 8. Provides consultation to patients on details of the diagnosis and resources available. 9. Formulates criteria and guidelines for the development of counseling plans. 10. Diagnoses genetic problems and develops short and long-term genetic counseling plans.
Required Education and Experience: Master's Degree in Genetics or a related field and two years of related work experience or an equivalent combination of experience and education.
Required Skill/Ability 1:
Thorough knowledge of theories and principles of human and medical genetics and genomics.
Required Skill/Ability 2:
Ability to obtain and evaluate a detailed pedigree using standardized nomenclature.
Required Skill/Ability 3:
Ability to analyze and interpret information obtained from any appropriate resource material relevant to each case for diagnostic evaluation and management.
Required Skill/Ability 4:
Skilled at providing comprehensive information to families and to health care providers regarding the etiology, inheritance, incidence/carrier risks, and natural history/prognosis for genetic condition/diseases in culturally appropriate terms that each will comprehend.
Preferred Education, Experience and Skills: Master’s Degree in Genetic Counseling. Two years or more of relevant experience in general pediatric genetics and/or inborn errors of metabolism.
Drug Screen: No Health Screening: No
Background Check Requirements: All candidates for employment will be subject to pre-employment background screening for this position, which may include motor vehicle, DOT certification, drug testing and credit checks based on the position description and job requirements. All offers are contingent upon the successful completion of the background check. Please visit www.yale.edu/hronline/careers/screening/faqs.html for additional information on the background check requirements and process.
Posting Disclaimer: The intent of this job description is to provide a representative summary of the essential functions that will be required of the position and should not be construed as a declaration of specific duties and responsibilities of the particular position. Employees will be assigned specific job-related duties through their hiring departments.
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