Job Description

Essential Duties

1. Obtains and assesses patient and family medical and psycho-social histories. 2. Prepares summary of patients' medical history for review. 3. Assesses information and refers cases to appropriate clinic or counselors. 4. Discusses results of diagnostic tests with higher level authority to determine direction of counseling plans. 5. Coordinates nationwide consultation services for patients and families involved in genetic counseling. 6. Develops genetic information material for distribution to potential patients and families. 7. Counsels and explains genetic services to patients and families. 8. Coordinates case review sessions for patients and families. 9. Ensures appropriate counseling support is developed and implemented for individuals and families. 10. Evaluates genetic counseling progress of individual or family and reports progress to higher authority. 11. Interprets genetic testing results and counseling assistance. 12. Develops written reports on family pedigree and profiles. 13. May perform other duties as assigned.

Required Education and Experience

Master's Degree in Genetics or a related field or an equivalent combination of experience and education.

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. For additional information on the background check requirements and process visit "Learn about background checks" under the Applicant Support Resources section of Careers on the It's Your Yale website.

Position Focus:

This position will work with a team of investigators and clinicians on NIH supported Yale Center of Diagnostic Excellence for Undiagnosed Diseases" and report to the principal investigator of the project. The primary responsibilities include the following: project coordination and communication with investigators at Yale, NIH program officer, Data Management and Coordinating Center (DMCC), other UDN sites as necessary; managing IRB protocol of the project; review medical records to determine the eligibility of research subjects and manage study records; work with clinical geneticist provider to perform clinic and research genetics consultation, including collecting medical history, family history, pre- and post -counseling for gene panel, exome and whole genome sequencing tests. Serve as a patient advocate by assisting family with referrals for services, assisting administrative team as needed with special scheduling issues and determination. Document patient-related activities in medical records. Participate in follow-up by tracking test results, 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 or other project associated staff. Perform special projects and preparing manuscript and meeting presentations as needed.

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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