Table 1. Case selection requirements for WGS.

1. Obtain a case summary from 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.

2. Confirm that the patient has had the current standard diagnostic testing used to evaluate that patient's phenotype to ensure that a cost-effective approach has been taken to diagnosis.

3. Choose patients with an apparently undiagnosed monogenic genetic disorder ideally with a rare or distinctive phenotype.

4. Focus on cases where a molecular diagnosis could help physicians/families with medical decision making/management such as treatment and family planning, a key to securing insurance preauthorization.

5. Select cases with appropriate samples 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. Choose cases where the cost of genomic sequencing appears to be less costly than testing many individual genes for the phenotype in question.

Abbreviation: WGS, whole genome sequencing.

Note: The criteria that the review committee used to select cases for whole genome sequencing are summarized.