Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

A new interesting article has been published in J Genet Couns. 2019 Dec; 28(6):1107-1118. doi: 10.1002/jgc4.1161. Epub 2019 Sep 3. and titled:

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

Authors of this article are:

Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R; Undiagnosed Diseases Network, Loscalzo J, Krier J, Stoler J, Sweetser D0, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT.

A summary of the article is shown below:

BACKGROUND: Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. The diagnostic yield and resulting clinical actions of WES for patients who previously faced insurance coverage barriers have not yet been explored.METHODS: We performed a retrospective descriptive analysis of clinical WES outcomes for patients facing insurance coverage barriers prior to clinical WES and who subsequently enrolled in the Undiagnosed Diseases Network (UDN). Clinical WES was completed as a result of participation in the UDN. Payer type, molecular diagnostic yield, and resulting clinical actions were evaluated.RESULTS: Sixty-six patients in the UDN faced insurance coverage barriers to WES at the time of enrollment (67% public payer, 26% private payer). Forty-two of 66 (64%) received insurance denial for clinician-ordered WES, 19/66 (29%) had health insurance through a payer known not to cover WES, and 5/66 (8%) had previous payer denial of other genetic tests. Clinical WES results yielded a molecular diagnosis in 23 of 66 patients (35% [78% pediatric, 65% neurologic indication]). Molecular diagnosis resulted in clinical actions in 14 of 23 patients (61%).CONCLUSIONS: These data demonstrate that a substantial proportion of patients who encountered insurance coverage barriers to WES had a clinically actionable molecular diagnosis, supporting the notion that WES has value as a covered benefit for patients who remain undiagnosed despite objective clinical findings.© 2019 National Society of Genetic Counselors.

Check out the article’s website on Pubmed for more information:



This article is a good source of information and a good way to become familiar with topics such as: diagnostic yield; exome sequencing; insurance coverage; rare diseases; reimbursement; undiagnosed diseases; access; genetic testing; policy; public health.


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