Developing a Conceptual, Reproducible, Rubric-Based Approach to Consent and Result Disclosure for Genetic Testing by Clinicians with Minimal Genetics Background

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Abstract

Purpose

In response to genetic testing being widely ordered by non-genetics clinicians, the Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; clinicalgenome.org) developed guidance to facilitate communication about genetic testing and efficiently improve the patient experience. Considering ethical, legal, social implications and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The CADRe rubrics allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians.

Methods

We present results of a formative survey of 66 genetics clinicians to assess the consent rubric for 9 genes ( MLH1, CDH1, TP53, GJB2, OTC; DMD, HTT, and CYP2C9/VKORC1). We also conducted interviews and focus groups with family and patient stakeholders (N=18), non-genetics specialists (N=27) and genetics clinicians (N=32) on both rubrics.

Results

Formative evaluation of the CADRe rubrics suggests key factors on which to make decisions about consent and disclosure discussions for a ‘typical’ patient.

Conclusion

We propose that the CADRe rubrics include the primary issues necessary to guide communication recommendations, and are ready for pilot testing by non-genetics clinicians. Consultation with genetics clinicians can be targeted towards more complex or intensive consent and disclosure counseling.

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Most cited references 19

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National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

Christopher P Childers, Kimberly Childers, Melinda Maggard-Gibbons … (2017)

Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.

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Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study

Jennifer M. Hoskovec, R L Bennett, M Carey … (2018)

As of May 2017, there were 4242 Certified Genetic Counselors (CGC) (American Board of Genetic Counseling, Inc. 2017) and 41 graduate-level genetic counseling training programs (Accreditation Council for Genetic Counseling 2017) in North America, and the demand for CGCs continues to increase. In the Fall of 2015 the Genetic Counselor Workforce Working Group, comprised of representatives from the American Board of Genetic Counseling (ABGC), the Accreditation Council for Genetic Counseling (ACGC), the Association of Genetic Counseling Program Directors (AGCPD), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC) commissioned a formal workforce study to project supply of and demand for CGCs through 2026. The data indicate a shortage of genetic counselors engaged in direct patient care. Assuming two scenarios for demand, supply is expected to reach equilibrium between 2024 and 2030. However, given the rate of growth in genetic counseling training programs in the six months since the study was completed, it is reasonable to expect that the number of new programs may be higher than anticipated by 2026. If true, and assuming that growth in programs is matched by equivalent growth in clinical training slots, the supply of CGCs in direct patient care would meet demand earlier than these models predict.

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Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer

Allison Kurian, Yun Li, Ann S. Hamilton … (2017)

Purpose Genetic testing for breast cancer risk is evolving rapidly, with growing use of multiple-gene panels that can yield uncertain results. However, little is known about the context of such testing or its impact on treatment. Methods A population-based sample of patients with breast cancer diagnosed in 2014 to 2015 and identified by two SEER registries (Georgia and Los Angeles) were surveyed about genetic testing experiences (N = 3,672; response rate, 68%). Responses were merged with SEER data. A patient subgroup at higher pretest risk of pathogenic mutation carriage was defined according to genetic testing guidelines. Patients' attending surgeons were surveyed about genetic testing and results management. We examined patterns and correlates of genetic counseling and testing and the impact of results on bilateral mastectomy (BLM) use. Results Six hundred sixty-six patients reported genetic testing. Although two thirds of patients were tested before surgical treatment, patients without private insurance more often experienced delays. Approximately half of patients (57% at higher pretest risk, 42% at average risk) discussed results with a genetic counselor. Patients with pathogenic mutations in BRCA1/2 or another gene had the highest rates of BLM (higher risk, 80%; average risk, 85%); however, BLM was also common among patients with genetic variants of uncertain significance (VUS; higher risk, 43%; average risk, 51%). Surgeons' confidence in discussing testing increased with volume of patients with breast cancer, but many surgeons (higher volume, 24%; lower volume, 50%) managed patients with BRCA1/2 VUS the same as patients with BRCA1/2 pathogenic mutations. Conclusion Many patients with breast cancer are tested without ever seeing a genetic counselor. Half of average-risk patients with VUS undergo BLM, suggesting a limited understanding of results that some surgeons share. These findings emphasize the need to address challenges in personalized communication about genetic testing.

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Author and article information

Contributors

Kelly E. Ormond

Miranda L.G. Hallquist

Adam H. Buchanan

Danielle Dondanville

Mildred K. Cho

Maureen Smith

Myra Roche

Kyle B. Brothers

Curtis R. Coughlin II

Laura Hercher

Louanne Hudgins

Seema Jamal

Howard P. Levy

Misha Raskin

Melissa Stosic

Wendy Uhlmann

Karen E. Wain

Erin Currey

W. Andrew Faucett

Journal

Journal ID (nlm-journal-id): 9815831

Journal ID (pubmed-jr-id): 22061

Journal ID (nlm-ta): Genet Med

Journal ID (iso-abbrev): Genet. Med.

Title: Genetics in medicine : official journal of the American College of Medical Genetics

ISSN (Print): 1098-3600

ISSN (Electronic): 1530-0366

Publication date Nihms-submitted: 7 June 2018

Publication date (Electronic): 06 July 2018

Publication date PMC-release: 06 January 2019

Electronic Location Identifier: 10.1038/s41436-018-0093-6

Affiliations

Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA

Geisinger

Department of Genetics, Stanford University School of Medicine, Stanford CA

Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford CA

Northwestern University

University of North Carolina at Chapel Hill, Departments of Pediatrics and Genetics, Chapel Hill, NC

Department of Pediatrics, University of Louisville

Department of Pediatrics, Center for Bioethics and Humanities, University of Colorado Anschutz Medical Campus

Sarah Lawrence College

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford CA

GeneDx

Johns Hopkins University

Geisinger and Helix

Columbia University

University of Michigan

Geisinger

National Human Genome Research Institute

Geisinger

Author notes

Corresponding author: Kelly Ormond. Phone 650-736-9847. kormond@ 123456stanford.edu

Article

Manuscript ID: NIHMS973105

DOI: 10.1038/s41436-018-0093-6

PMC ID: 6320736

PubMed ID: 29976988

SO-VID: 9697816d-f3db-46e7-a0ee-1486737f2690

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Developing a Conceptual, Reproducible, Rubric-Based Approach to Consent and Result Disclosure for Genetic Testing by Clinicians with Minimal Genetics Background

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Abstract

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Most cited references 19

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study

Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer

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