Next Generation Sequencing and Multi-Gene Panel Testing: Implications for the Oncology Nurse

Kelly, P. M.

doi:10.1016/j.soncn.2017.02.007

Cited by 8 publications

(6 citation statements)

References 30 publications

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“…But there is no discussion of the complexities posed by the detection of a likely inherited risk variant prior to the recommended risk assessment and counseling by a cancer genetics professional, nor is any distinction drawn between women who may meet criteria due to a suggestive family history versus an incidentally discovered risk variant. While innovative solutions, such as telemedicine approaches to virtual consultation with genetic counselors (22), training oncology nurses in genetic services delivery (23), and related collaboration of genetic counselors with non-specialists, (24), have been proposed to alleviate the growing demand for genetic risk assessment and counseling, without changes to consent practices in the context of tumor profiling, unexpected and potentially unwelcome identification of inherited risk is likely to persist as a central practice concern.…”

Section: Discussionmentioning

confidence: 99%

Practice Implications of Expanded Genetic Testing in Oncology

Korngiebel

Zech

Chappelle

et al. 2019

Cancer Investigation

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Genetic test use in oncology is growing, yet providers' experiences with evolving testing norms and their implications for patient care remain under-explored. In interviews with oncologists and cancer genetics professionals, 22 key informants described the increasing importance of germline results for therapeutic decision-making, preference for ordering tests directly rather than referring, and rapid adoption of cancer gene panels for testing. Implications for informed consent, result interpretation, and patient management were identified. These results suggest concerns raised by the transition of genetic test delivery from cancer genetics professionals to oncologists that must be addressed in practice guidelines and provider training.

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Section: Discussionmentioning

confidence: 99%

Practice Implications of Expanded Genetic Testing in Oncology

Korngiebel

Zech

Chappelle

et al. 2019

Cancer Investigation

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“…NGS technologies are able to identify genetic aberrations, including rearrangements, CNVs, insertion, and deletions, that have been previously neglected from the clinical testing. NGSbased multigene panels offer a targeted method to assess several genes simultaneously (233). These tests have also the capability to identify specific actionable driver mutations and help in understanding the underlying mechanisms of drug resistance to point out patients more likely to respond to a given therapy.…”

Section: How Genomic Technologies Are Moving Toward Personalized Medicinementioning

confidence: 99%

Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies

Scatena

Murtas

Tomei³

2021

Front. Oncol.

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Cutaneous melanoma is an aggressive tumor responsible for 90% of mortality related to skin cancer. In the recent years, the discovery of driving mutations in melanoma has led to better treatment approaches. The last decade has seen a genomic revolution in the field of cancer. Such genomic revolution has led to the production of an unprecedented mole of data. High-throughput genomic technologies have facilitated the genomic, transcriptomic and epigenomic profiling of several cancers, including melanoma. Nevertheless, there are a number of newer genomic technologies that have not yet been employed in large studies. In this article we describe the current classification of cutaneous melanoma, we review the current knowledge of the main genetic alterations of cutaneous melanoma and their related impact on targeted therapies, and we describe the most recent high-throughput genomic technologies, highlighting their advantages and disadvantages. We hope that the current review will also help scientists to identify the most suitable technology to address melanoma-related relevant questions. The translation of this knowledge and all actual advancements into the clinical practice will be helpful in better defining the different molecular subsets of melanoma patients and provide new tools to address relevant questions on disease management. Genomic technologies might indeed allow to better predict the biological - and, subsequently, clinical - behavior for each subset of melanoma patients as well as to even identify all molecular changes in tumor cell populations during disease evolution toward a real achievement of a personalized medicine.

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“…NGS techniques are high throughput and can analyse multiple DNA sequences in parallel. Their multigene panels represent a targeted approach to sequence several genes simultaneously [ 45 ]. These panels can be individualised according to tumour types and differ according to the genes being analysed.…”

Section: Qualitative Diagnosismentioning

confidence: 99%

“…For example, sinonasal tumour-specific panels have been proposed that can analyse numerous susceptibility genes for this tumour type [ 46 ]. A multigene panel can be tailored to genes of interest and can be updated as new genes are discovered [ 45 ]. These genomic advances not only pave the way for the development of targeted therapies for different molecular subclasses of tumours but also allow for more precise diagnoses based on molecular profiling and delineate subgroups of patients who are more likely to benefit from targeted agents [ 47 , 48 ].…”

Section: Qualitative Diagnosismentioning

confidence: 99%

Qualitative and Quantitative Diagnosis in Head and Neck Cancer

et al. 2021

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The diagnosis is the art of determining the nature of a disease, and an accurate diagnosis is the true cornerstone on which rational treatment should be built. Within the workflow in the management of head and neck tumours, there are different types of diagnosis. The purpose of this work is to point out the differences and the aims of the different types of diagnoses and to highlight their importance in the management of patients with head and neck tumours. Qualitative diagnosis is performed by a pathologist and is essential in determining the management and can provide guidance on prognosis. The evolution of immunohistochemistry and molecular biology techniques has made it possible to obtain more precise diagnoses and to identify prognostic markers and precision factors. Quantitative diagnosis is made by the radiologist and consists of identifying a mass lesion and the estimation of the tumour volume and extent using imaging techniques, such as CT, MRI, and PET. The distinction between the two types of diagnosis is clear, as the methodology is different. The accurate establishment of both diagnoses plays an essential role in treatment planning. Getting the right diagnosis is a key aspect of health care, and it provides an explanation of a patient’s health problem and informs subsequent decision. Deep learning and radiomics approaches hold promise for improving diagnosis.

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Next Generation Sequencing and Multi-Gene Panel Testing: Implications for the Oncology Nurse

Cited by 8 publications

References 30 publications

Practice Implications of Expanded Genetic Testing in Oncology

Practice Implications of Expanded Genetic Testing in Oncology

Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies

Qualitative and Quantitative Diagnosis in Head and Neck Cancer

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