PrediCTC, liquid biopsy in precision oncology: a technology transfer experience in the Spanish health system

Detection of genetic variants in clinically relevant genomic hot-spot regions has become a promising application of next-generation sequencing technology in precision oncology. Effective personalized diagnostics requires the detection of variants with often very low frequencies. This can be achieved by targeted, short-read sequencing that provides high sequencing depths. However, rare genetic variants can contain crucial information for early cancer detection and subsequent treatment success, an inevitable level of background noise usually limits the accuracy of low frequency variant calling assays. To address this challenge, we developed DEEPGENTM, a variant calling assay intended for the detection of low frequency variants within liquid biopsy samples. We processed reference samples with validated mutations of known frequencies (0%–0.5%) to determine DEEPGENTM’s performance and minimal input requirements. Our findings confirm DEEPGENTM’s effectiveness in discriminating between signal and noise down to 0.09% variant allele frequency and an LOD(90) at 0.18%. A superior sensitivity was also confirmed by orthogonal comparison to a commercially available liquid biopsy-based assay for cancer detection.

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Transferencias de conocimiento y tecnología en medicina y en ciencias de la salud: una introducción / Knowledge and Technology Transfer in Medicine and the Health Sciences: An Introduction

Revista Internacional de Humanidades Médicas ◽

10.37467/gka-revmedica.v1.1298 ◽

2012 ◽

Vol 1 (2) ◽

Author(s):

Enrique Baca Baldomero

Keyword(s):

Technology Transfer ◽

Knowledge Transfer ◽

Health System ◽

Information Society ◽

General Public ◽

Health Sciences ◽

Transfer Of Knowledge ◽

Specific Field ◽

Knowledge And Technology Transfer

ABSTRACTAn analysis of the concept of the transfer of knowledge, in general, and, in particular, its application to the health system. Three aspects of the transfer of knowledge are analysed: concepts and data; technology and values; and the directions it takes, that is to say centripetally from the cordon of sciences outside the health system itself (or any specific field of knowledge) and centrifugally from this out to the general public. This exchange of knowledge (transfer, transmission, dissemination; all three variants are analysed in the piece) includes, as well as the knowledge itself, values that modify both the nucleus generating knowledge and its recipients. It is necessary, in our so-called communication or information society, to find out and quantify how transfers of knowledge (concepts, data and technology) influence the appearance of values arising from these transfers.RESUMENSe analiza el concepto transferencia de conocimientos en general y en su aplicación particular al sistema sanitario. La transferencia de conocimientos se analiza en su triple aspecto de conceptos y datos; tecnologías y valores, así como en las direcciones en que se da, es decir, de modo centrípeto, desde el cordón de ciencias externas al propio sistema sanitario (o en general a cualquier campo de conocimiento concreto) y desde este hacia el exterior incluida la población en general de modo centrífugo. Este intercambio de conocimientos (transferencia, transmisión, difusión; las tres variantes son analizadas en el trabajo) incorpora, junto al propio conocimiento, valores que modifican tanto al propio núcleo generador de conocimientos como a los receptores de los mismos, siendo necesario, en nuestra así llamada sociedad de la comunicación o de la información, conocer y cuantificar de qué modo influyen las transferencias de conocimientos (conceptos, datos, y tecnologías) en la aparición de valores que se derivan de dichas transferencias.

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Decentralization and the Spanish Health System

Federalism and Decentralization in European Health and Social Care ◽

10.1057/9781137291875.0010 ◽

2013 ◽

Cited By ~ 1

Keyword(s):

Health System ◽

Spanish Health

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Recent Advances in Liquid Biopsy in Precision Oncology Research

Biological and Pharmaceutical Bulletin ◽

10.1248/bpb.b18-00804 ◽

2019 ◽

Vol 42 (3) ◽

pp. 337-342 ◽

Cited By ~ 6

Author(s):

Yoshiharu Sato ◽

Ryo Matoba ◽

Kikuya Kato

Keyword(s):

Liquid Biopsy ◽

Precision Oncology ◽

Oncology Research ◽

Recent Advances

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Liquid biopsy in the clinical management of hepatocellular carcinoma

Gut ◽

10.1136/gutjnl-2019-320282 ◽

2020 ◽

Vol 69 (11) ◽

pp. 2025-2034 ◽

Cited By ~ 1

Author(s):

Johann von Felden ◽

Teresa Garcia-Lezana ◽

Kornelius Schulze ◽

Bojan Losic ◽

Augusto Villanueva

Keyword(s):

Hepatocellular Carcinoma ◽

Treatment Response ◽

Liquid Biopsy ◽

Clinical Management ◽

Early Stage ◽

Personalised Medicine ◽

Precision Oncology ◽

Early Hepatocellular Carcinoma ◽

Populations At Risk ◽

Circulating Tumour Dna

With increasing knowledge on molecular tumour information, precision oncology has revolutionised the medical field over the past years. Liquid biopsy entails the analysis of circulating tumour components, such as circulating tumour DNA, tumour cells or tumour-derived extracellular vesicles, and has thus come as a handy tool for personalised medicine in many cancer entities. Clinical applications under investigation include early cancer detection, prediction of treatment response and molecular monitoring of the disease, for example, to comprehend resistance patterns and clonal tumour evolution. In fact, several tests for blood-based mutation profiling are already commercially available and have entered the clinical field.In the context of hepatocellular carcinoma, where access to tissue specimens remains mostly limited to patients with early stage tumours, liquid biopsy approaches might be particularly helpful. A variety of translational liquid biopsy studies have been carried out to address clinical needs, such as early hepatocellular carcinoma detection and prediction of treatment response. To this regard, methylation profiling of circulating tumour DNA has evolved as a promising surveillance tool for early hepatocellular carcinoma detection in populations at risk, which might soon transform the way surveillance programmes are implemented. This review summarises recent developments in the liquid biopsy oncological space and, in more detail, the potential implications in the clinical management of hepatocellular carcinoma. It further outlines technical peculiarities across liquid biopsy technologies, which might be helpful for interpretation by non-experts.

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Influence of Family Income Level on Obstetric and Perinatal Outcomes in Spain

Sustainability ◽

10.3390/su12145523 ◽

2020 ◽

Vol 12 (14) ◽

pp. 5523

Author(s):

Ana Ballesta-Castillejos ◽

Juan Gómez-Salgado ◽

Julián Rodríguez-Almagro ◽

Antonio Hernández-Martínez

Keyword(s):

Health System ◽

Household Income ◽

Family Income ◽

Perinatal Outcomes ◽

Income Level ◽

Socioeconomic Level ◽

Confounding Factors ◽

Income Status ◽

Increased Risk ◽

Spanish Health

For pregnant women, having a low family income status is associated with late prenatal attendance and an increased risk of adverse outcomes during pregnancy, delivery, and immediately after delivery. However, the influence of the socioeconomic level on maternal and child health may be minimal as long as the health system model is able to neutralise health inequity. For this reason, the objective of this study is to determine the relationship between the socioeconomic level assessed through monthly household income and obstetric and perinatal outcomes in the Spanish Health System, where midwives play a relevant role. To meet this objective, a cross-sectional observational study aimed at women who have been mothers between 2013 and 2018 in Spain was developed. The final study population was 5942 women. No statistically significant differences with linear trend were found between income level and obstetric and perinatal outcomes after the adjustment by confounding factors (pregnancy composite morbidity, p = 0.447; delivery composite morbidity, p = 0.590; perinatal composite morbidity, p = 0.082; postpartum composite morbidity, p = 0.407). The main conclusion is that, in the current Spanish health system, household income as an indicator of socioeconomic status is not related to perinatal outcomes after the adjustment by confounding factors. These results are likely due to the public model of our health system that serves all citizens on equal footing, although other social and individual factors may have influenced these results

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Precision Detection Technology: Equipping Precision Oncology with Wings

Journal of Oncology ◽

10.1155/2020/9068121 ◽

2020 ◽

Vol 2020 ◽

pp. 1-8 ◽

Cited By ~ 1

Author(s):

Rilan Bai ◽

Zheng Lv ◽

Xiao Chen ◽

Hanfei Guo ◽

Ling Bai ◽

...

Keyword(s):

Liquid Biopsy ◽

New Drugs ◽

Therapeutic Effects ◽

Precision Oncology ◽

Detection Techniques ◽

Detection Technology ◽

Future Challenges ◽

Rare Gene ◽

The Many

In recent years, precision medical detection techniques experienced a rapid transformation from low-throughput to high-throughput genomic sequencing, from multicell promiscuous detection to single-cell precision sequencing. The emergence of liquid biopsy technology has compensated for the many limitations of tissue biopsy, leading to a tremendous transformation in precision detection. Precision detection techniques contribute to monitoring disease development more closely, evaluating therapeutic effects more scientifically, and developing new targets and new drugs. In the future, the role of precision detection and the joint detection in epigenetics, rare gene detection, individualized targeted therapy, and multigene targeted drug combination therapy should be extensively explored. This article reviews the changes in precision medical detection technology in the era of precision medicine, as well as the development, clinical application, and future challenges of liquid biopsy.

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