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SPARK Genetic Specialist


160 Fifth Avenue
Full time
R0000504

SPARK is a national research study supported by the Simons Foundation that aims to recruit, engage and retain a community of 50,000 individuals with autism spectrum disorders and their family members. Participation in SPARK involves contribution of medical and behavioral information, saliva samples for genetic analysis, the option to have genetic findings related to autism returned and consenting to be invited to participate in future research studies.

Reporting to the SPARK Scientific Director, the SPARK Genetic Specialist will be responsible for managing the day-to-day and strategic activities of returning genetic results to participants. This includes managing relationships with clinical sequencing laboratories and genetic counseling services. The SPARK Genetic Specialist will also maintain a working understanding of the SPARK databases and collaborate with the IT development and data analytics teams to build and enhance tools for ordering clinical validations of preliminary genetic findings and returning genetic results to participants through an external genetic counseling service and/or participants' physicians. The SPARK Genetic Specialist will also support the activities of the Medical Genetics Committee and Simons Searchlight study and contribute to other research aspects of SFARI's cohorts as needed.

ESSENTIAL FUNCTIONS/RESPONSIBILITIES
  • Help identify genetic variants related to autism that are returnable to SPARK participants
  • Organize and facilitate the confirmation of genetic findings and the return of clinical results to participants
  • Generate gene-specific content for patient groups and communities
  • Perform and monitor disclosure sessions
  • Support the design and implementation of the large-scale return of clinical genetic results through work with SPARK IT development and clinical teams
  • Manage the study's relationship with InformedDNA genetic counselors
  • Contribute to the curation of the SPARK gene list based on SPARK findings, published literature and growing statistical support for risk genes.
  • Provide administrative support to the SPARK Medical Genetics Committee, such as preparing presentations of SPARK cases, study updates and findings from relevant studies and taking and distributing minutes.
  • Provide administrative support to the SPARK Genomics Consortium, such as preparing presentations, taking and distributing minutes, and contributing to manuscript preparation.
  • Manage relationships with external vendors, such as the clinical sequencing laboratory and genetic counseling service with which SPARK has active contracts.

MINIMUM QUALIFICATIONS

Education
  • Ph.D., M.S. or similar higher degree in genetics or a closely related field
  • Master's degree in genetic counseling is desired but not required

Experience
  • Two to five years of experience in a clinical and/or research setting
  • Experience working with IRBs
  • Direct experience managing or helping to manage projects involving groups or networks of organizations or research institutions is desired but not required

Related Skills & Other Requirements
  • Sound judgment and discretion
  • Excellent interpersonal skills with all levels of the organization and external communities
  • Excellent verbal and written communication skills
  • Ability to maintain confidentiality
  • Comfort working independently but also work well in a collaborative team environment
  • Strong administrative and organizational skills with attention to detail and ability to balance and prioritize workload under deadlines and multiple commitments
  • Strong computer skills, particularly with Google and Microsoft products

REQUIRED APPLICATION MATERIALS
  • Please submit a resume and cover letter stating your interest in the position.

The Simons Foundation's Diversity Commitment

Many of the greatest ideas and discoveries come from a diverse mix of minds, backgrounds and experiences, and we are committed to cultivating an inclusive work environment. The Simons Foundation provides equal opportunities to all employees and applicants for employment without regard to race, religion, color, age, sex, national origin, sexual orientation, gender identity, genetic disposition, neurodiversity, disability, veteran status or any other protected category under federal, state and local law.


Apply here: http://www.Click2apply.net/vfqqbgy7jswgcn4x

PI109479895