Which type is right for you

What types of patients would benefit from whole exome sequencing or whole genome sequencing (together referred to as genomic sequencing)? We have found that testing is useful for patients with rare inherited disorders or with complex clinical presentations lacking a clear diagnosis.  The following criteria can help the provider select cases:

(1) Patient under consideration should be evaluated by physicians with expertise in the patient’s condition to help the laboratory correlate the patient’s phenotype and family history with the genotype derived from sequencing.  A report from a specialist should be provided to the laboratory when testing is ordered.

(2) The ordering physician should confirm that the patient has had the current standard diagnostic testing used to evaluate that patient's phenotype to insure that a cost effective approach has been taken to diagnosis.
(3) The provider should choose patients with an apparently undiagnosed monogenic genetic disorder ideally with a rare or distinctive phenotype, or with a positive family history of multiple affected individuals.
(4) In order to secure insurance pre-authorization the provider should focus on cases where a molecular diagnosis could help physicians/families with medical decision making/management such as treatment and family planning.  This reasoning should be part of the physician note where testing is recommended.
(5) Care should be exercised to select cases where appropriate samples are available to carry out initial genomic sequencing as well as follow-on testing including confirmatory functional assays in the patient and segregation analysis of variants in the parents and other family members.
(6) The provider should choose cases where the cost of genomic sequencing appears to be less costly than testing many individual genes for the phenotype in question.

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