Using a Genomics Taxonomy: Facilitating Patient Care Safety and Quality in the Era of Precision Oncology

Friend, Patricia; Dickman, Erin; Calzone, Kathleen A.

doi:10.1188/21.cjon.205-209

Cited by 6 publications

(3 citation statements)

References 13 publications

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“…Nursing consensus framework statements have therefore recommended inclusion of precision health concepts and skills into all levels of nursing education as well as continuing education and training programs ( Fu et al, 2019 ). Additionally, a review of the literature and existing Oncology Nursing Society (ONS) materials identified inconsistencies and inaccuracies in the terminology used regarding pharmacogenomics and biomarker testing, which could result in miscommunication or selection of incorrect treatments ( Friend et al, 2021 ). To this end, ONS created the Genomics and Precision Oncology Learning Library to help develop a standardized lexicon, improve literacy and communication, and serve as an educational resource for nurses and other clinicians involved in making treatment decisions based on molecular profiling ( www.ons.org/learning-libraries/precision-oncology ).…”

Section: Role Of Oncology Pharmacists Advanced Practice Nurses and Ph...mentioning

confidence: 99%

The Advanced Practitioner’s Role in the Rapidly Evolving Landscape of Precision Medicine

C. Moore, PharmD, BCPS, BCOP, DPLA, FCCP,

S. Guinigundo, MSN, RN, CNP, ANP-BC

2023

JADPRO

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The advent of precision medicine targeting oncogenic mutations and other alterations has led to a paradigm shift in the treatment of many solid tumors and hematologic malignancies. For many of these agents, predictive biomarker testing is necessary to determine the presence of such alterations in order to select patients who are most likely to respond, and to avoid the use of ineffective and potentially harmful alternative therapy. Recent technological advances such as next-generation sequencing have facilitated the identification of targetable biomarkers in patients with cancer and thus help inform treatment decisions. Moreover, new molecular-guided therapies and associated predictive biomarkers continue to be discovered. For some cancer therapeutics, regulatory approval requires the use of a companion diagnostic to ensure proper patient selection. Advanced practitioners therefore need to be aware of current biomarker testing guidelines regarding who should be tested, how and when to test, and how these results can guide treatment decisions using molecular-based therapies. They should also recognize and address potential barriers and disparities in biomarker testing to ensure equitable care for all patients, and assist in educating patients and colleagues alike on the importance of testing and integration into clinical practice to enhance outcomes.

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Section: Role Of Oncology Pharmacists Advanced Practice Nurses and Ph...mentioning

confidence: 99%

The Advanced Practitioner’s Role in the Rapidly Evolving Landscape of Precision Medicine

C. Moore, PharmD, BCPS, BCOP, DPLA, FCCP,

S. Guinigundo, MSN, RN, CNP, ANP-BC

2023

JADPRO

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“…Research demonstrates that there is a need for foundational knowledge among oncology professionals, and unfortunately this case illustrates this. 15,16 It is incorrect to tell a family member a pathogenic variant can "skip" a generation. The term "skip" should never be used.…”

Section: Terminology Mattersmentioning

confidence: 99%

Laboratory Selection in Germline Genetic Testing: Laboratory Science Matters

Mahon

2023

Journal of the National Comprehensive Cancer Network

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There are multiple laboratories that offer germline genetic testing, and it can be difficult to discern which one to use for testing. Some laboratories have more comprehensive analysis techniques and capability, which increases the accuracy of testing. The ordering provider has a responsibility to select the appropriate laboratory with technologic capability for the needed testing, inform the laboratory of prior testing results in the patient and family so known familial variants have targeted testing, and use appropriate terminology and nomenclature when communicating information to other healthcare professionals, patients, and families. This report presents a case illustrating the potential errors that can occur when a provider selects a laboratory that lacks the capacity to detect certain pathogenic variants, such as large deletions and duplications. False-negative germline testing results lead to missed opportunities in prevention and early detection for not only the patient but often multiple family members, which may lead to psychosocial distress and late-detected cancers. This case highlights the complexities of genetic care and why management by a genetics professional can facilitate more fiscally responsible care, appropriate genetic testing, and comprehensive care for all family members at risk.

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“…In 2021, the Oncology Nursing Society (ONS) responded to the ACMG request for organizational involvement and issued a “Call to Action: Using the Appropriate Genomic Terminology for Safety and Quality,” challenging members and others to follow ACMG guidelines and use the preferred variant terminology in communications with patients, family members, and health-care professionals (ONS, n.d.). The Oncology Nursing Society also developed an online easily accessible genomics taxonomy to promote genomic literacy among oncology nurses ( Friend et al, 2021 ). The NCI promotes the “variant” terminology on their physician data query (PDQ) website: “A concerted effort is being made within the genetics community to shift terminology used to describe genetic variation.…”

Section: Genomic Literacymentioning

confidence: 99%

When Germline Genetic Testing Results Are Unclear: Highlighting Variants of Uncertain Significance

Kelly, DNP, APRN, CNS, AGN-BC, AOCN,

Mahon, DNS, RN, AOCN, AGN-BC, FAAN,

Friend, PhD, APRN-CNS, AOCNS, AGN-BC

2023

JADPRO

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With the advent of high-throughput next-generation sequencing (NGS) and multigene panel testing, genetic testing and interpretations have become increasingly complex. Specifically, reports demonstrating “variant of uncertain significance” (VUS) present interpretative challenges. Misinterpretation of a VUS may result in clinical harm, emotional distress for patients and family members, and potential health-care provider liability. The following article and deidentified case study illustrate how a lack of health-care provider and patient understanding of a germline VUS resulted in a negative patient outcome and unnecessary surgery.

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Using a Genomics Taxonomy: Facilitating Patient Care Safety and Quality in the Era of Precision Oncology

Cited by 6 publications

References 13 publications

The Advanced Practitioner’s Role in the Rapidly Evolving Landscape of Precision Medicine

The Advanced Practitioner’s Role in the Rapidly Evolving Landscape of Precision Medicine

Laboratory Selection in Germline Genetic Testing: Laboratory Science Matters

When Germline Genetic Testing Results Are Unclear: Highlighting Variants of Uncertain Significance

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