With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and ...their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate.
A review of the literature was performed, focusing on all PubMed articles reporting qualitative, quantitative or mixed studies that interviewed healthcare providers, participants, or society regarding this subject. The methodology was carefully analysed, in particular whether or not studies made the distinction between actionable and non-actionable SF, in a clinical or research context.
From 2010 to 2016, 39 articles were compiled. A total of 14,868 people were interviewed (1259 participants, 6104 healthcare providers, 7505 representatives of society). When actionable and non-actionable SF were distinguished (20 articles), 92% of respondents were keen to have results regarding actionable SF (participants: 88%, healthcare providers: 86%, society: 97%), against 70% (participants: 83%, healthcare providers: 62%, society: 73%) for non-actionable SF. These percentages were slightly lower in the specific situation of children probands.
For respondents, the notion of the «patient's choice» is crucial. For healthcare providers, the importance of defining policies for SF among diagnostic lab, learning societies and/or countries is outlined, in particular regarding the content and extension of the list of actionable genes to propose, the modalities of information, and the access to information about adult-onset diseases in minors.
However, the existing literature should be taken with caution, since most articles lack a clear definition of SF and actionability, and referred to hypothetical scenarios with limited information to respondents. Studies conducted by multidisciplinary teams involving patients with access to results are sadly lacking, in particular in the medium term after the results have been given. Such studies would feed the debate and make it possible to measure the impact of such findings and their benefit-risk ratio.
The DMAPS upgrade of the Belle II vertex detector Babeluk, M.; Barbero, M.; Baudot, J. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
07/2024, Letnik:
1064
Journal Article
Recenzirano
The Belle II experiment at KEK in Japan considers an upgrade for the vertex detector system in line with the accelerator upgrade for higher luminosity at long shutdown 2 planned for 2028.
One ...proposal for the upgrade of the vertex detector called VTX aims to improve background robustness and reduce occupancy using small and fast pixels. VTX accommodates the OBELIX depleted monolithic active CMOS pixel sensor (DMAPS) on all five proposed layers. OBELIX is specifically developed for the VTX application and based on the TJ-Monopix2 chip initially developed to meet the requirements of the outer layers of the ATLAS inner tracker (ITk).
This paper will review recent tests of the TJ-Monopix2 chip as well as various design aspects of the OBELIX-1 chip currently under development.
The ultra-thin and highly granular CMOS Monolithic Active Pixel Sensors (MAPS) are typically optimized for high rate high precision tracking, which implies the use of a very thin active medium and ...digital readout. Both features hamper using the devices for identifying low momentum particles by means of dE/dx. Still, MAPS feature charge sharing and typically clusters of more than one fired pixel per impinging particles are formed. It was previously shown that the number of fired pixels per cluster scales with the dE/dx, which allowed identifying highly ionizing nuclear fragments 1. Assuming a sufficiently strong response to different dE/dx, this approach could also be considered for distinguishing minimum ionizing particles (MIP) from light fragments like alpha particles in tracking detectors. In this work, we study this response with particle beams with a dE/dx of up to four times the ones of MIPs, for non-irradiated and irradiated chips, with different sensing nodes as implemented in the MIMOSIS-1 prototype used for the vertex detector of the CBM experiment.
With next generation sequencing, physicians are faced with more complex and uncertain data, particularly incidental findings (IF). Guidelines for the return of IF have been published by learned ...societies. However, little is known about how patients are affected by these results in a context of oncogenetic testing. Over 4 years, 2500 patients with an indication for genetic testing underwent a gene cancer panel. If an IF was detected, patients were contacted by a physician/genetic counsellor and invited to take part in a semi-structured interview to assess their understanding of the result, the change in medical care, the psychological impact, and the transmission of results to the family. Fourteen patients (0.56%) were delivered an IF in a cancer predisposition gene (RAD51C, PMS2, SDHC, RET, BRCA2, CHEK2, CDKN2A, CDH1, SUFU). Two patients did not collect the results and another two died before the return of results. Within the 10 patients recontacted, most of them reported surprise at the delivery of IF, but not anxiety. The majority felt they had chosen to obtain the result and enough information to understand it. They all initiated the recommended follow-up and did not regret the procedure. Information regarding the IF was transmitted to their offspring but siblings or second-degree relatives were not consistently informed. No major adverse psychological events were found in our experience. IF will be inherent to the development of sequencing, even for restricted gene panels, so it is important to increase our knowledge on the impact of such results in different contexts.
CMOS pixel sensors are foreseen to equip the vertex detector (called PXL) of the upgraded inner tracking system of the STAR experiment at RHIC. The sensors (called ULTIMATE) are being designed and ...their architecture is being optimized for the PXL specifications, extrapolating from the MIMOSA-26 sensor realized for the EUDET beam telescope.
The paper gives an overview of the ULTIMATE sensor specifications and of the adaptation of its forerunner, MIMOSA-26, to the PXL specifications.
One of the main changes between MIMOSA-26 and ULTIMATE is the use of a high resistivity epitaxial layer. Recent performance assessments obtained with MIMOSA-26 sensors manufactured on such an epitaxial layer are presented, as well as results of beam tests obtained with a prototype probing improved versions of the MIMOSA-26 pixel design. They show drastic improvements of the pixel signal-to-noise ratio and of the sensor radiation tolerance with respect to the performances achieved with a standard, i.e. low resistivity, layer.
Improved radiation tolerance of MAPS using a depleted epitaxial layer Dorokhov, A.; Bertolone, G.; Baudot, J. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
12/2010, Letnik:
624, Številka:
2
Journal Article
Recenzirano
Tracking performance of Monolithic Active Pixel Sensors (MAPS) developed at IPHC (Turchetta, et al., 2001)
1 have been extensively studied (Winter, et al., 2001; Gornushkin, et al., 2002)
2,3. ...Numerous sensor prototypes, called MIMOSA,
1
1
Standing for Minimum Ionising particle MOS Active pixel sensors.
were fabricated and tested since 1999 in order to optimise the charge collection efficiency and power dissipation, to minimise the noise and to increase the readout speed.
The radiation tolerance was also investigated. The highest fluence tolerable for a
10
μ
m
pitch device was found to be
∼
10
13
n
eq
/
cm
2
, while it was only
2
×
10
12
n
eq
/
cm
2
for a
20
μ
m
pitch device. The purpose of this paper is to show that the tolerance to non-ionising radiation may be extended up to
O(10
14) n
eq/cm
2. This goal relies on a fabrication process featuring a
15
μ
m
thin, high resistivity (
∼
1
k
Ω
cm
) epitaxial layer. A sensor prototype (MIMOSA-25) was fabricated in this process to explore its detection performance. The depletion depth of the epitaxial layer at standard CMOS voltages (
<
5
V
) is similar to the layer thickness. Measurements with m.i.p.s
2
2
Standing for minimum ionising particle.
show that the charge collected in the seed pixel is at least twice larger for the depleted epitaxial layer than for the undepleted one, translating into a signal-to-noise ratio (SNR) of
∼
50
. Tests after irradiation have shown that this excellent performance is maintained up to the highest fluence considered (
3
×
10
13
n
eq
/
cm
2
)
, making evidence of a significant extension of the radiation tolerance limits of MAPS.
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