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

ABSTRACT: 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.

SUBMITTER: Reuter CM

PROVIDER: S-EPMC6901723 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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

Reuter Chloe M CM Kohler Jennefer N JN Bonner Devon D Zastrow Diane D Fernandez Liliana L Dries Annika A Marwaha Shruti S Davidson Jean J Brokamp Elly E Herzog Matthew M Hong Joyce J Macnamara Ellen E Rosenfeld Jill A JA Schoch Kelly K Spillmann Rebecca R Loscalzo Joseph J Krier Joel J Stoler Joan J Sweetser David D Palmer Christina G S CGS Phillips John A JA Shashi Vandana V Adams David A DA Yang Yaping Y Ashley Euan A EA Fisher Paul G PG Mulvihill John J JJ Bernstein Jonathan A JA Wheeler Matthew T MT

Journal of genetic counseling 20190903 6

<h4>Background</h4>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.<h4>Methods</h4>We performed a retrospective descriptive analysis of clinical WES outcomes for patients fa ...[more]

PMID: 31478310

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Project description:Introduction:Obtaining informed consent from study participants and disseminating the findings responsibly is a key principle required for ethically conducted clinical and genetic research. Reports from African researchers providing feedback on insights gained during the return of whole exome sequencing (WES) results to breast cancer patients treated in resource-limited settings is lacking. Aim:The empirical process used to fill this gap in relation to BRCA1/2 variant detection using WES provided unique insights incorporated into a pathology-supported genetic testing algorithm for return of research results to Kenyan breast cancer patients. Methods:The Informed consent form approved by the Moi Teaching and Referral Hospital in Kenya was adopted from a translational research study conducted in South Africa. Initially, the informed consent process was piloted in 16 Kenyan female patients referred for breast surgery, following a community-based awareness campaign. A total of 95 female and two male breast cancer patients were enrolled in the study from 2013 to 2016. Immunohistochemistry (IHC) results of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER2) status were obtained from hospital records. DNA of patients with a family history of cancer was extracted from saliva and screened for pathogenic variants in the BRCA1/2 genes as the first step using WES. Results:Ten patients approached for participation in this study declined to sign the informed consent form. Data on IHC used as a proxy for molecular subtype were available in 8 of 13 breast cancer patients (62%) with a family history of cancer. Five BRCA1/2 variants of uncertain clinical significance were detected, as well as a pathogenic BRCA2 variant (c.5159C > A; S1720?) in a female patient eligible for return of WES results. Conclusion:Experience gained during the qualitative pilot phase was essential to overcome challenges associated with the translation of sophisticated genetic terms into native African languages. Detection of a pathogenic BRCA2 variant in a patient with familial breast cancer, frequently associated with hormone receptor-positive breast carcinoma as reported in this case, led to a high level of confidence on which to base risk management in future. Implementation of new technologies alongside standard pathology provides a practical approach to the application of genomic medicine in Africa.

Dataset Information

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

Publications

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

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