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1.
Sci Rep ; 14(1): 10488, 2024 05 07.
Article in English | MEDLINE | ID: mdl-38714709

ABSTRACT

Vocal attractiveness influences important social outcomes. While most research on the acoustic parameters that influence vocal attractiveness has focused on the possible roles of sexually dimorphic characteristics of voices, such as fundamental frequency (i.e., pitch) and formant frequencies (i.e., a correlate of body size), other work has reported that increasing vocal averageness increases attractiveness. Here we investigated the roles these three characteristics play in judgments of the attractiveness of male and female voices. In Study 1, we found that increasing vocal averageness significantly decreased distinctiveness ratings, demonstrating that participants could detect manipulations of vocal averageness in this stimulus set and using this testing paradigm. However, in Study 2, we found no evidence that increasing averageness significantly increased attractiveness ratings of voices. In Study 3, we found that fundamental frequency was negatively correlated with male vocal attractiveness and positively correlated with female vocal attractiveness. By contrast with these results for fundamental frequency, vocal attractiveness and formant frequencies were not significantly correlated. Collectively, our results suggest that averageness may not necessarily significantly increase attractiveness judgments of voices and are consistent with previous work reporting significant associations between attractiveness and voice pitch.


Subject(s)
Beauty , Voice , Humans , Male , Female , Voice/physiology , Adult , Young Adult , Judgment/physiology , Adolescent
2.
MAGMA ; 37(2): 169-183, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38197908

ABSTRACT

OBJECTIVE: To assess the possible influence of third-order shim coils on the behavior of the gradient field and in gradient-magnet interactions at 7 T and above. MATERIALS AND METHODS: Gradient impulse response function measurements were performed at 5 sites spanning field strengths from 7 to 11.7 T, all of them sharing the same exact whole-body gradient coil design. Mechanical fixation and boundary conditions of the gradient coil were altered in several ways at one site to study the impact of mechanical coupling with the magnet on the field perturbations. Vibrations, power deposition in the He bath, and field dynamics were characterized at 11.7 T with the third-order shim coils connected and disconnected inside the Faraday cage. RESULTS: For the same whole-body gradient coil design, all measurements differed greatly based on the third-order shim coil configuration (connected or not). Vibrations and gradient transfer function peaks could be affected by a factor of 2 or more, depending on the resonances. Disconnecting the third-order shim coils at 11.7 T also suppressed almost completely power deposition peaks at some frequencies. DISCUSSION: Third-order shim coil configurations can have major impact in gradient-magnet interactions with consequences on potential hardware damage, magnet heating, and image quality going beyond EPI acquisitions.


Subject(s)
Magnetic Resonance Imaging , Magnets , Magnetic Resonance Imaging/methods
3.
Nat Methods ; 20(12): 2048-2057, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38012321

ABSTRACT

To increase granularity in human neuroimaging science, we designed and built a next-generation 7 Tesla magnetic resonance imaging scanner to reach ultra-high resolution by implementing several advances in hardware. To improve spatial encoding and increase the image signal-to-noise ratio, we developed a head-only asymmetric gradient coil (200 mT m-1, 900 T m-1s-1) with an additional third layer of windings. We integrated a 128-channel receiver system with 64- and 96-channel receiver coil arrays to boost signal in the cerebral cortex while reducing g-factor noise to enable higher accelerations. A 16-channel transmit system reduced power deposition and improved image uniformity. The scanner routinely performs functional imaging studies at 0.35-0.45 mm isotropic spatial resolution to reveal cortical layer functional activity, achieves high angular resolution in diffusion imaging and reduces acquisition time for both functional and structural imaging.


Subject(s)
Brain , Magnetic Resonance Imaging , Humans , Brain/diagnostic imaging , Brain/pathology , Magnetic Resonance Imaging/methods , Head , Neuroimaging , Signal-To-Noise Ratio
4.
Magn Reson Med ; 90(6): 2592-2607, 2023 12.
Article in English | MEDLINE | ID: mdl-37582214

ABSTRACT

PURPOSE: A 128-channel receive-only array for brain imaging at 7 T was simulated, designed, constructed, and tested within a high-performance head gradient designed for high-resolution functional imaging. METHODS: The coil used a tight-fitting helmet geometry populated with 128 loop elements and preamplifiers to fit into a 39 cm diameter space inside a built-in gradient. The signal-to-noise ratio (SNR) and parallel imaging performance (1/g) were measured in vivo and simulated using electromagnetic modeling. The histogram of 1/g factors was analyzed to assess the range of performance. The array's performance was compared to the industry-standard 32-channel receive array and a 64-channel research array. RESULTS: It was possible to construct the 128-channel array with body noise-dominated loops producing an average noise correlation of 5.4%. Measurements showed increased sensitivity compared with the 32-channel and 64-channel array through a combination of higher intrinsic SNR and g-factor improvements. For unaccelerated imaging, the 128-channel array showed SNR gains of 17.6% and 9.3% compared to the 32-channel and 64-channel array, respectively, at the center of the brain and 42% and 18% higher SNR in the peripheral brain regions including the cortex. For R = 5 accelerated imaging, these gains were 44.2% and 24.3% at the brain center and 86.7% and 48.7% in the cortex. The 1/g-factor histograms show both an improved mean and a tighter distribution by increasing the channel count, with both effects becoming more pronounced at higher accelerations. CONCLUSION: The experimental results confirm that increasing the channel count to 128 channels is beneficial for 7T brain imaging, both for increasing SNR in peripheral brain regions and for accelerated imaging.


Subject(s)
Brain , Magnetic Resonance Imaging , Magnetic Resonance Imaging/methods , Brain/diagnostic imaging , Signal-To-Noise Ratio , Phantoms, Imaging , Neuroimaging/methods , Equipment Design
5.
Magn Reson Med ; 90(2): 784-801, 2023 08.
Article in English | MEDLINE | ID: mdl-37052387

ABSTRACT

PURPOSE: Peripheral nerve stimulation (PNS) limits the image encoding performance of both body gradient coils and the latest generation of head gradients. We analyze a variety of head gradient design aspects using a detailed PNS model to guide the design process of a new high-performance asymmetric head gradient to raise PNS thresholds and maximize the usable image-encoding performance. METHODS: A novel three-layer coil design underwent PNS optimization involving PNS predictions of a series of candidate designs. The PNS-informed design process sought to maximize the usable parameter space of a coil with <10% nonlinearity in a 22 cm region of linearity, a relatively large inner diameter (44 cm), maximum gradient amplitude of 200 mT/m, and a high slew rate of 900 T/m/s. PNS modeling allowed identification and iterative adjustment of coil features with beneficial impact on PNS such as the number of winding layers, shoulder accommodation strategy, and level of asymmetry. PNS predictions for the final design were compared to measured thresholds in a constructed prototype. RESULTS: The final head gradient achieved up to 2-fold higher PNS thresholds than the initial design without PNS optimization and compared to existing head gradients with similar design characteristics. The inclusion of a third intermediate winding layer provided the additional degrees of freedom necessary to improve PNS thresholds without significant sacrifices to the other design metrics. CONCLUSION: Augmenting the design phase of a new high-performance head gradient coil by PNS modeling dramatically improved the usable image-encoding performance by raising PNS thresholds.


Subject(s)
Magnetic Resonance Imaging , Peripheral Nerves , Magnetic Resonance Imaging/methods , Peripheral Nerves/diagnostic imaging , Peripheral Nerves/physiology , Equipment Design
6.
Sci Rep ; 12(1): 22479, 2022 12 28.
Article in English | MEDLINE | ID: mdl-36577918

ABSTRACT

There is growing concern that artificial intelligence conversational agents (e.g., Siri, Alexa) reinforce voice-based social stereotypes. Because little is known about social perceptions of conversational agents' voices, we investigated (1) the dimensions that underpin perceptions of these synthetic voices and (2) the role that acoustic parameters play in these perceptions. Study 1 (N = 504) found that perceptions of synthetic voices are underpinned by Valence and Dominance components similar to those previously reported for natural human stimuli and that the Dominance component was strongly and negatively related to voice pitch. Study 2 (N = 160) found that experimentally manipulating pitch in synthetic voices directly influenced dominance-related, but not valence-related, perceptions. Collectively, these results suggest that greater consideration of the role that voice pitch plays in dominance-related perceptions when designing conversational agents may be an effective method for controlling stereotypic perceptions of their voices and the downstream consequences of those perceptions.


Subject(s)
Artificial Intelligence , Voice , Humans , Communication , Social Perception , Stereotyping
7.
Neuroimage ; 263: 119640, 2022 11.
Article in English | MEDLINE | ID: mdl-36176220

ABSTRACT

Primary motor cortex (M1) consists of a stack of interconnected but distinct layers (L1-L6) which affect motor control through large-scale networks. However, the brain-wide functional influence of each layer is poorly understood. We sought to expand our knowledge of these layers' circuitry by combining Cre-driver mouse lines, optogenetics, fMRI, and electrophysiology. Neuronal activities initiated in Drd3 neurons (within L2/3) were mainly confined within M1, while stimulation of Scnn1a, Rbp4, and Ntsr1 neurons (within L4, L5, and L6, respectively) evoked distinct responses in M1 and motor-related subcortical regions, including striatum and motor thalamus. We also found that fMRI responses from targeted stimulations correlated with both local field potentials (LFPs) and spike changes. This study represents a step forward in our understanding of how different layers of primary motor cortex are embedded in brain-wide circuitry.


Subject(s)
Motor Cortex , Mice , Animals , Motor Cortex/physiology , Optogenetics , Neurons/physiology , Thalamus/physiology , Brain
8.
Front Psychol ; 13: 937146, 2022.
Article in English | MEDLINE | ID: mdl-36092066

ABSTRACT

Height preferences reflecting positive assortative mating for height-wherein an individual's own height positively predicts the preferred height of their mate-have been observed in several distinct human populations and are thought to increase reproductive fitness. However, the extent to which assortative preferences for height differ strategically for short-term versus long-term relationship partners, as they do for numerous other indices of mate quality, remains unclear. We explore this possibility in a large representative sample of over 500 men and women aged 15-77 from Canada, Cuba, Norway and the United States. Participants' own heights were measured, and they indicated their height preferences for a long-term and short-term mate using graphic stimuli containing metric indices. Replicating the "male-taller norm," participants on average preferred taller-than-average male mates, and shorter-than-average female mates. Positive assortative preferences for height were observed across sexes and samples, however the strength of these height preferences varied with relationship context for men, and not for women. Taller men preferred relatively shorter women for short-term relationships than for long-term relationships, indicating stronger assortative preferences for height in a long-term context. These results provide preliminary evidence that, in addition to mate preferences for other physical traits related to mate quality such as masculinity in the body, face, and voice, assortative preferences for height do vary as a function of expected relationship length, but this was surprisingly only observed in preferences for female height.

10.
Front Psychol ; 12: 690198, 2021.
Article in English | MEDLINE | ID: mdl-34354635

ABSTRACT

Speed-accuracy tradeoff (SAT) theory dictates that decisions can be made more quickly by sacrificing accuracy. Here we investigate whether the human brain can operate in a brief metabolic overdrive to overcome SAT and successfully make decisions requiring both high levels of speed and accuracy. In the context of BOLD fMRI we expect "a brief metabolic overdrive" to involve an increase in cerebral oxygen metabolism prior to increased cerebral blood flow-a phenomenon known as the "initial dip" which results from a sudden drop in oxyhemoglobin in perfusing blood. Human subjects performed a motion discrimination task consisting of different difficulties while emphasizing either accuracy (i.e., without time pressure) or both speed and accuracy (i.e., with time pressure). Using simultaneous multi-slice fMRI, for very fast (333 ms) measurement of whole brain BOLD activity, revealed two modes of physiological overdrive responses when subjects emphasized both speed and accuracy. The majority of subjects exhibited the hypothesized enhancement of initial dip amplitude in posterior visual cortex (PVC) with the size of the enhancement significantly correlated with improvement in behavioral performance. For these subjects, the traditionally analyzed post-stimulus overshoot was not affected by task emphasis. These results demonstrate the complexity and variability of the BOLD hemodynamic response. The discovered relationships between BOLD response and behavior were only observed when subjects emphasized both speed and accuracy in more difficult trials suggesting that the brain can perform in a state of metabolic overdrive with enhanced neural processing of sensory information specifically in challenging situations.

11.
Magn Reson Med ; 85(5): 2490-2506, 2021 05.
Article in English | MEDLINE | ID: mdl-33231890

ABSTRACT

PURPOSE: To achieve highly accelerated submillimeter resolution T2 -weighted functional MRI at 7T by developing a three-dimensional gradient and spin echo imaging (GRASE) with inner-volume selection and variable flip angles (VFA). METHODS: GRASE imaging has disadvantages in that (a) k-space modulation causes T2 blurring by limiting the number of slices and (b) a VFA scheme results in partial success with substantial SNR loss. In this work, accelerated GRASE with controlled T2 blurring is developed to improve a point spread function (PSF) and temporal signal-to-noise ratio (tSNR) with a large number of slices. To this end, the VFA scheme is designed by minimizing a trade-off between SNR and blurring for functional sensitivity, and a new GRASE-optimized random encoding, which takes into account the complex signal decays of T2 and T2∗ weightings, is proposed by achieving incoherent aliasing for constrained reconstruction. Numerical and experimental studies were performed to validate the effectiveness of the proposed method over regular and VFA GRASE (R- and V-GRASE). RESULTS: The proposed method, while achieving 0.8 mm isotropic resolution, functional MRI compared to R- and V-GRASE improves the spatial extent of the excited volume up to 36 slices with 52%-68% full width at half maximum (FWHM) reduction in PSF but approximately 2- to 3-fold mean tSNR improvement, thus resulting in higher BOLD activations. CONCLUSIONS: We successfully demonstrated the feasibility of the proposed method in T2 -weighted functional MRI. The proposed method is especially promising for cortical layer-specific functional MRI.


Subject(s)
Brain , Imaging, Three-Dimensional , Brain/diagnostic imaging , Feasibility Studies , Magnetic Resonance Imaging , Signal-To-Noise Ratio
12.
Magn Reson Med ; 84(6): 3128-3145, 2020 12.
Article in English | MEDLINE | ID: mdl-32557752

ABSTRACT

PURPOSE: Functional MRI (fMRI) at the mesoscale of cortical layers and columns requires both sensitivity and specificity, the latter of which can be compromised if the imaging method is affected by vascular artifacts, particularly cortical draining veins at the pial surface. Recent studies have shown that cerebral blood volume (CBV) imaging is more specific to the actual laminar locus of neural activity than BOLD imaging using standard gradient-echo EPI sequences. Gradient and spin-echo (GRASE) BOLD imaging has also shown greater specificity when compared with standard gradient-echo EPI BOLD. Here we directly compare CBV and BOLD contrasts in high-resolution imaging of the primary motor cortex for laminar functional MRI in four combinations of signal labeling, CBV using slice-selective slab-inversion vascular space occupancy (VASO) and BOLD, each with 3D gradient-echo EPI and zoomed 3D-GRASE image readouts. METHODS: Activations were measured using each sequence and contrast combination during a motor task. Activation profiles across cortical depth were measured to assess the sensitivity and specificity (pial bias) of each method. RESULTS: Both CBV imaging using gradient-echo 3D-EPI and BOLD imaging using 3D-GRASE show similar specificity and sensitivity and are therefore useful tools for mesoscopic functional MRI in the human cortex. The combination of GRASE and VASO did not demonstrate high levels of sensitivity, nor show increased specificity. CONCLUSION: Three-dimensional EPI with VASO contrast and 3D-GRASE with BOLD contrast both demonstrate sufficient sensitivity and specificity for laminar functional MRI to be used by neuroscientists in a wide range of investigations of depth-dependent neural circuitry in the human brain.


Subject(s)
Brain Mapping , Cerebral Blood Volume , Brain , Cerebrovascular Circulation , Humans , Imaging, Three-Dimensional , Magnetic Resonance Imaging
13.
IEEE Trans Med Imaging ; 39(3): 742-752, 2020 03.
Article in English | MEDLINE | ID: mdl-31403409

ABSTRACT

This work develops a novel, simultaneous multi-VENC and simultaneous multi-slice (SMV+SMS) imaging in a single acquisition for robust phase contrast (PC) MRI. To this end, the pulse sequence was designed to permit concurrent acquisition of multiple VENCs as well as multiple slices on a shared frequency encoding gradient, in which each effective echo time for multiple VENCs was controlled by adjusting net gradient area while multiple slices were simultaneously excited by employing multiband resonance frequency (RF) pulses. For VENC and slice separation, RF phase cycling and gradient blip were applied to create both inter-VENC and inter-slice shifts along phase encoding direction, respectively. With an alternating RF phase cycling that generates oscillating steady-state with low and high signal amplitude, the acquired multi-VENC k-space was reformulated into 3D undersampled k-space by generating a virtual dimension along VENC direction for modulation induced artifact reduction. In vivo studies were conducted to validate the feasibility of the proposed method in comparison with conventional PC MRI. The proposed method shows comparable performance to the conventional method in delineating both low and high flow velocities across cardiac phases with high spatial coverage without apparent artifacts. In the presence of high flow velocity that is above the VENC value, the proposed method exhibits clear depiction of flow signals over conventional method, thereby leading to high VNR image with improved velocity dynamic range.


Subject(s)
Blood Flow Velocity , Image Processing, Computer-Assisted/methods , Magnetic Resonance Imaging/methods , Artifacts , Blood Circulation , Humans
14.
Magn Reson Med ; 82(1): 377-386, 2019 07.
Article in English | MEDLINE | ID: mdl-30883901

ABSTRACT

PURPOSE: To develop a novel, simultaneous multi-slice (SMS) reconstruction that extends an inter-slice leakage constraint to intra-slice aliasing with a virtual slice concept for artifact reduction. METHODS: Inter-slice leakage constraint has been used for SMS reconstruction that mitigates leakage artifacts from the adjacent slices. In this work, the leakage constraint is extended to more general framework that includes SMS and parallel MRI as special cases by viewing intra-slice aliasing artifacts from undersampling as virtual slices while imposing data fidelity to ensure the measurement consistency. In this way, the reconstruction makes it feasible to directly estimate the individual slices from the undersampled SMS acquisition as a one-step method. The performance of the extended method is evaluated with data acquired using 2D GRE and EPI sequences. RESULTS: Compared to a two-step method that performs slice unaliasing followed by inplane unaliasing, the proposed one-step method reduces aliasing artifacts by employing the extended leakage constraint while lowering the noise amplification by improving the conditioning for the inverse problem. CONCLUSIONS: The proposed one-step method takes advantage of virtual slices as additional encoding power for improved image quality. We successfully demonstrated that the proposed one-step method minimizes a trade-off between aliasing artifacts and amplified noises over the two-step method.


Subject(s)
Image Processing, Computer-Assisted/methods , Magnetic Resonance Imaging/methods , Algorithms , Artifacts , Brain/diagnostic imaging , Humans
15.
Trends Ecol Evol ; 33(12): 901-903, 2018 12.
Article in English | MEDLINE | ID: mdl-30287080

ABSTRACT

Selection for low male voice pitch is generally assumed to occur because it is a valid cue of formidability. Here we summarize recent empirical challenges to this hypothesis. We also outline an alternative account in which selection for low male voice pitch is a byproduct of sensory exploitation.


Subject(s)
Pitch Perception , Sex Characteristics , Voice , Feedback, Sensory , Female , Humans , Male
16.
Am J Hum Biol ; 30(6): e23178, 2018 11.
Article in English | MEDLINE | ID: mdl-30251293

ABSTRACT

OBJECTIVES: Recent research on the signal value of masculine physical characteristics in men has focused on the possibility that such characteristics are valid cues of physical strength. However, evidence that sexually dimorphic vocal characteristics are correlated with physical strength is equivocal. Consequently, we undertook a further test for possible relationships between physical strength and masculine vocal characteristics. METHODS: We tested the putative relationships between White UK (N = 115) and Chinese (N = 106) participants' handgrip strength (a widely used proxy for general upper-body strength) and five sexually dimorphic acoustic properties of voices: fundamental frequency (F0), fundamental frequency's SD (F0-SD), formant dispersion (Df), formant position (Pf), and estimated vocal-tract length (VTL). RESULTS: Analyses revealed no clear evidence that stronger individuals had more masculine voices. CONCLUSIONS: Our results do not support the hypothesis that masculine vocal characteristics are a valid cue of physical strength.


Subject(s)
Hand Strength , Sex Characteristics , Voice Quality , Adult , China/ethnology , Female , Humans , Male , Scotland/ethnology , Young Adult
17.
Infant Behav Dev ; 53: 90-100, 2018 11.
Article in English | MEDLINE | ID: mdl-30139507

ABSTRACT

Ethologists have observed that "baby schema" or infant cuteness is an adaptive protective mechanism ensuring the young's survival. Past efforts to quantify cuteness have been restricted to line measurement techniques. We developed a novel data-driven approach to quantify infant cuteness into a single metric. Using the Psychomorph program, we delineated facial elements of 72 infant pictures using 206 facial points and identified the facial components that were significantly related to subjective cuteness perceptions of the faces. 108 nulliparous females rated the pictures on cuteness and emotional dimensions. We found that cuter infants have larger cephalic curvature compared to a smaller chin, a big smile, and round chubby features among others. We also investigated the relationship between cuteness and emotional responses. Our results show that a greater degree of cuteness elicits both increased positive emotional responses and decreased negative emotional responses. Cuter infants also elicited greater feelings of alertness, interest, and the need to respond. In fact, the participants' emotional responses were predictive of both data-driven scores and subjective perceptions of cuteness.


Subject(s)
Emotions , Facial Expression , Visual Perception , Face , Female , Humans , Infant , Male
18.
Neuroimage ; 164: 155-163, 2018 01 01.
Article in English | MEDLINE | ID: mdl-28213116

ABSTRACT

Encoding higher spatial resolution in simultaneous multi-slice (SMS) EPI is highly dependent on gradient performance, high density receiver coil arrays and pulse sequence optimization. We simulate gradient amplitude and slew rate determination of EPI imaging performance in terms of minimum TE, echo spacing (ES) and spatial resolution. We discuss the effects of image zooming in pulse sequences that have been used for sub-millimeter resolutions and the trade-offs in using partial Fourier and parallel imaging to reduce TE, PSF and ES. Using optimizations for SMS EPI pulse sequences with available gradient and receiver hardware, experimental results in ultra-high resolution (UHR) (0.45-0.5mm isotropic) SMS-EPI fMRI and mapping ocular dominance columns (ODC) in human brain at 0.5 mm isotropic resolution are demonstrated. We discuss promising future directions of UHR fMRI.


Subject(s)
Brain Mapping/methods , Brain/diagnostic imaging , Echo-Planar Imaging/methods , Image Processing, Computer-Assisted/methods , Algorithms , Brain/physiology , Dominance, Ocular/physiology , Humans , Imaging, Three-Dimensional/methods
19.
Neuroimage ; 164: 164-171, 2018 01 01.
Article in English | MEDLINE | ID: mdl-28185951

ABSTRACT

High isotropic resolution fMRI is challenging primarily due to long repetition times (TR) and insufficient SNR, especially at lower field strengths. Recently, Simultaneous Multi-Slice (SMS) imaging with blipped-CAIPI has substantially reduced scan time and improved SNR efficiency of fMRI. Similarly, super-resolution techniques utilizing sub- voxel spatial shifts in the slice direction have increased both resolution and SNR efficiency. Here we demonstrate the synergistic combination of SLIce Dithered Enhanced Resolution (SLIDER) and SMS for high-resolution, high-SNR whole brain fMRI in comparison to standard resolution fMRI data as well as high-resolution data. With SLIDER-SMS, high spatial frequency information is recovered (unaliased) even in absence of super-resolution deblurring algorithms. Additionally we find that BOLD CNR (as measured by t-value in a visual checkerboard paradigm) is improved by as much as 100% relative to traditionally acquired high- resolution data. Using this gain in CNR, we are able to obtain unprecedented nominally isotropic resolutions at 3T (0.66 mm) and 7T (0.45 mm).


Subject(s)
Brain Mapping/methods , Brain/diagnostic imaging , Image Processing, Computer-Assisted/methods , Magnetic Resonance Imaging/methods , Humans , Image Enhancement/methods
20.
Genet Med ; 20(5): 554-558, 2018 04.
Article in English | MEDLINE | ID: mdl-29261187

ABSTRACT

PurposeThe clinical utility of screening unselected individuals for pathogenic BRCA1/2 variants has not been established. Data on cancer risk management behaviors and diagnoses of BRCA1/2-associated cancers can help inform assessments of clinical utility.MethodsWhole-exome sequences of participants in the MyCode Community Health Initiative were reviewed for pathogenic/likely pathogenic BRCA1/2 variants. Clinically confirmed variants were disclosed to patient-participants and their clinicians. We queried patient-participants' electronic health records for BRCA1/2-associated cancer diagnoses and risk management that occurred within 12 months after results disclosure, and calculated the percentage of patient-participants of eligible age who had begun risk management.ResultsThirty-seven MyCode patient-participants were unaware of their pathogenic/likely pathogenic BRCA1/2 variant, had not had a BRCA1/2-associated cancer, and had 12 months of follow-up. Of the 33 who were of an age to begin BRCA1/2-associated risk management, 26 (79%) had performed at least one such procedure. Three were diagnosed with an early-stage, BRCA1/2-associated cancer-including a stage 1C fallopian tube cancer-via these procedures.ConclusionScreening for pathogenic BRCA1/2 variants among unselected individuals can lead to occult cancer detection shortly after disclosure. Comprehensive outcomes data generated within our learning healthcare system will aid in determining whether population-wide BRCA1/2 genomic screening programs offer clinical utility.


Subject(s)
Biological Specimen Banks , Early Detection of Cancer/methods , Genes, BRCA1 , Genes, BRCA2 , Mutation , Neoplasms/diagnosis , Neoplasms/genetics , Adult , Aged , Aged, 80 and over , Genetic Association Studies , Genetic Predisposition to Disease , Germ-Line Mutation , Hereditary Breast and Ovarian Cancer Syndrome/diagnosis , Hereditary Breast and Ovarian Cancer Syndrome/genetics , Humans , Middle Aged , Pedigree , Whole Genome Sequencing
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