Utilization and Outcomes of<i>BRCA</i>Genetic Testing and Counseling in a National Commercially Insured Population

Armstrong, Joanne; Toscano, Michele; Kotchko, Nancy; Friedman, Sue; Schwartz, Marc D.; Virgo, Katherine S.; Lynch, Kristian; Andrews, James E.; Loi, Claudia X. Aguado; Bauer, Joseph E.; Casares, Carolina; Clark, Elizabeth Bourquardez; Kondoff, Matthew; Molina, Ashley D.; Abdollahian, Mehrnaz; Walker, Gregg; Sutphen, Rebecca

doi:10.1001/jamaoncol.2015.3048

Cited by 107 publications

(53 citation statements)

References 26 publications

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“…Similar rates of genetic counseling were found by Livingston et al in 2011 when they studied rates of genetic counseling for metabolic disorders tracked by newborn screening programs in Minnesota, Missouri, and Rhode Island (Livingston et al, 2011). This is in stark contrast to recent data reported from the ABOUT study where this group investigated the rate of genetic counseling for women undergoing BRCA genetic testing, and found that only 36.8% of received genetic counseling (Armstrong et al, 2015). Evidence suggests that genetic counseling is provided more frequently in clinics providing care for inherited metabolic conditions than in other fields of genetics (Hinton et al, 2014; Livingston et al, 2011).…”

Section: Discussioncontrasting

confidence: 94%

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Stein

Vockley

Edick

et al. 2017

Journal of Genetic Counseling

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The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity. Genetic counseling was provided to families 95.8% of the time and in 68.6% of cases by a genetic counselor. Genetic testing was performed on 68.0% of subjects, with usage highest for fatty-acid-oxidation disorders (85.1%). The rate of consanguinity was 2.38%. Within this large national collaborative there is a high frequency of genetic counseling, though in one-third of cases a genetic counselor has not been involved. Additionally, while metabolic conditions have historically been diagnosed biochemically, there is currently high utilization of molecular testing suggesting DNA testing is being incorporated into diagnostic assessments - especially for fatty-acid-oxidation disorders where the underlying genotype helps predict clinical presentation.

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Section: Discussioncontrasting

confidence: 94%

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Stein

Vockley

Edick

et al. 2017

Journal of Genetic Counseling

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“…Indeed, participants receiving genomic counseling were significantly more likely to understand the relative and limited predictive contribution of common genetic risk factors for complex disease compared to control subjects. Participants receiving genomic counseling also were more confident and accurate in knowing their genetic risk status than control subjects, which is consistent with broader literature on the benefits of genetic counseling (Armstrong et al, 2015). Furthermore, the more comprehensive assessment of family history through genomic counseling allowed for disease risk to be modified in a significant percentage of cases.…”

Section: Discussionsupporting

confidence: 83%

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

Sweet

Sturm

Schmidlen

et al. 2017

Journal of Genetic Counseling

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There has been very limited study of patients with chronic disease receiving potentially actionable genomic based results or the utilization of genetic counselors in the online result delivery process. We conducted a randomized controlled trial on 199 patients with chronic disease each receiving eight personalized and actionable complex disease reports online. Primary study aims were to assess the impact of in-person genomic counseling on 1) causal attribution of disease risk, 2) personal awareness of disease risk, and 3) perceived risk of developing a particular disease. Of 98 intervention arm participants (mean age = 57.8; 39% female) randomized for in-person genomic counseling, 76 (78%) were seen. In contrast, control arm participants (n=101; mean age = 58.5; 54% female) were initially not offered genomic counseling as part of the study protocol but were able to access in-person genomic counseling, if they requested it, 3-months post viewing of at least one test report and post-completion of the study-specific follow-up survey. A total of 64 intervention arm and 59 control arm participants completed follow-up survey measures. We found that participants receiving in-person genomic counseling had enhanced objective understanding of the genetic variant risk contribution for multiple complex diseases. Genomic counseling was associated with lowered participant causal beliefs in genetic influence across all eight diseases, compared to control participants. Our findings also illustrate that for the majority of diseases under study, intervention arm participants believed they knew their genetic risk status better than control arm subjects. Disease risk was modified for the majority during genomic counseling, due to the assessment of more comprehensive family history. In conclusion, for patients receiving personalized and actionable genomic results through a web portal, genomic counseling enhanced their objective understanding of the genetic variant risk contribution to multiple common diseases. These results support the development of additional genomic counseling interventions to ensure a high level of patient comprehension and improve patient-centered health outcomes.

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“…It has been shown for other commonly used genetic tests that counseling falls markedly short of what is recommended by professional societies 34 due in part to cost and feasibility. This is exacerbated by a shortage of genetic counselors 18 and clinical geneticists.…”

Section: Discussionmentioning

confidence: 99%

Payer decision making for next-generation sequencing–based genetic tests: insights from cell-free DNA prenatal screening

Dervan

Deverka

Trosman

et al. 2017

Genetics in Medicine

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Purpose Cell-free DNA (cfDNA) prenatal screening tests have been rapidly adopted into clinical practice, in part due to positive insurance coverage. We evaluated the framework payers used in making coverage decisions to describe a process that should be informative for other sequencing tests. Methods We analyzed coverage policies from the 19 largest U.S. private payers with publicly available policies through February 2016, building from the UCSF TRANSPERS Payer Coverage Policy Registry. Results All payers studied cover cfDNA screening for detection of trisomies 21, 18 and 13 in high risk, singleton pregnancies, based on robust clinical validity (CV) studies and modeled evidence of clinical utility (CU). Payers typically evaluated the evidence for each chromosomal abnormality separately, although results are offered as part of a panel. Starting in August 2015, 8/19 payers also cover cfDNA screening in average risk pregnancies, citing recent CV studies and updated professional guidelines. Most payers attempted, but were unable to independently assess analytic validity (AV). Conclusion Payers utilized the standard evidentiary framework (AV/CV/CU) when evaluating cfDNA screening, but varied in their interpretation of the sufficiency of the evidence. Professional guidelines, large CV studies and decision analytic models regarding health outcomes appeared highly influential in coverage decisions.

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Utilization and Outcomes ofBRCAGenetic Testing and Counseling in a National Commercially Insured Population

Cited by 107 publications

References 26 publications

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

Payer decision making for next-generation sequencing–based genetic tests: insights from cell-free DNA prenatal screening

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