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Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018.

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Author information

1
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN. Electronic address: Lazaridis.Konstantinos@mayo.edu.
2
InformedDNA, St Petersburg, FL.
3
Department of Health Sciences Research, Mayo Clinic, Rochester, MN.
4
Department of Medical Genetics, Mayo Clinic, Rochester, MN.
5
Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL.
6
Department of Medical Genetics, Mayo Clinic, Rochester, MN; Department of Neurology, Mayo Clinic, Rochester, MN.
7
Center for Individualized Medicine, Mayo Clinic, Rochester, MN.
8
Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ.
9
Division of Clinical Biochemistry and Immunology, Department of Laboratory Medicine and Pathology, College of Medicine, Mayo Clinic, Rochester, MN.
10
Departments of Cardiovascular Diseases, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics; Division of Pediatric Cardiology; Windland Smith Rice Sudden Death Genomics Laboratory, College of Medicine, Mayo Clinic, Scottsdale, AZ.
11
Department of Medical Genetics, Mayo Clinic, Rochester, MN; Department of Molecular Medicine, Mayo Clinic, Rochester, MN.
12
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
13
Division of Clinical Dermatology, Mayo Clinic, Rochester, MN.
14
Division of Statistics and Biomedical Informatics, Mayo Clinic, Rochester, MN.
15
Division of Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN.
16
Department of Medical Genetics, Mayo Clinic, Rochester, MN; Division of Gynecology, Mayo Clinic, Rochester, MN.
17
Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, MN.
18
Division of Laboratory Genetics, Mayo Clinic, Rochester, MN.
19
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN.
20
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.

Abstract

OBJECTIVE:

To describe the experience and outcome of performing whole-exome sequencing (WES) for resolution of patients on a diagnostic odyssey in the first 18 months of an individualized medicine clinic (IMC).

PATIENTS AND METHODS:

The IMC offered WES to physicians of Mayo Clinic practice for patients with suspected genetic disease. DNA specimens of the proband and relatives were submitted to WES laboratories. We developed the Genomic Odyssey Board with multidisciplinary expertise to determine the appropriateness for IMC services, review WES reports, and make the final decision about whether the exome findings explain the disease. This study took place from September 30, 2012, to March 30, 2014.

RESULTS:

In the first 18 consecutive months, the IMC received 82 consultation requests for patients on a diagnostic odyssey. The Genomic Odyssey Board deferred 7 cases and approved 75 cases to proceed with WES. Seventy-one patients met with an IMC genomic counselor. Fifty-one patients submitted specimens for WES testing, and the results have been received for all. There were 15 cases in which a diagnosis was made on the basis of WES findings; thus, the positive diagnostic yield of this practice was 29%. The mean cost per patient for this service was approximately $8000. Medicaid supported 27% of the patients, and 38% of patients received complete or partial insurance coverage.

CONCLUSION:

The significant diagnostic yield, moderate cost, and notable health marketplace acceptance for WES compared with conventional genetic testing make the former method a rational diagnostic approach for patients on a diagnostic odyssey.

PMID:
26944241
DOI:
10.1016/j.mayocp.2015.12.018
[Indexed for MEDLINE]

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