Clinical Variant Specialist

Closing Date: August 6, 2009

Company:	Myriad Genetics Salt Lake City, UT
Job Location:	Salt Lake City - Salt Lake County
Employment Type:	Full Time
Department:	Medical Services

Description:

Classification of genetic variants is a vital component of operations at Myriad Genetic Laboratories, a world leader in clinical genetic testing. We are seeking a Clinical Variant Specialist to support and manage all aspects of the process of genetic variant classification and reclassification. Specific responsibilities include: 1) working with healthcare providers to gather data concerning the segregation of variants of uncertain significance within families and the phase (cis/trans) of variants and deleterious mutations observed in individuals having testing through MGL, 2) evaluating the outcomes of family studies, 3) developing and maintaining databases relevant to the process of variant classification, including input of data and queries, 4) locating and evaluating published literature related to the classification of variants, 5) functioning as a liaison between laboratory operations, Medical Services, and other MGL departments in the area of variant classification, and 6) making recommendations for classification based on ongoing evaluation of data and input from members of the mutation classification group.

This individual will operate with a level of autonomy and responsibility commensurate with experience and initiative. Continuing education is a priority and attendance at professional meetings is encouraged. Salt Lake City has a large and vibrant genetics community, offering many opportunities for professional interaction. Myriad participates in the genetic counseling training program at the University of Utah, offering a clinical rotation for students and opportunities for the development of collaborative research projects.

Qualifications:

Minimum Qualifications:
Graduate degree (masters or doctorate) in genetics, molecular biology, or a related field. Excellent understanding of core genetic concepts, such as dominant and recessive inheritance, penetrance, variable expressivity and probability calculations, as well as laboratory technologies such as PCR, sequencing, southern blotting and MLPA. Familiarity with on-line tools for locating literature (i.e. Pubmed) on relevant topics. Experience in reading and evaluating literature describing molecular analyses of the structure and function of genes, genetic association studies and clinical trials. Ability to construct and interpret pedigrees. Ability to communicate effectively with physicians, genetic counselors and other healthcare professionals.

Other Desirable Qualifications:
Experience in any or all of the following areas: genetic counseling and clinical genetics, hereditary cancer genetics, laboratory operations, molecular analysis of gene expression, clinical research (especially in genetics), advanced statistical analysis, software development, clinical education, project management.

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