Search

Objectives: To assess whether mammographic breast density in women diagnosed with breast cancer correlates with the total number of incidental magnetic resonance imaging (MRI)-detected lesions and the likelihood of the lesions being malignant. Methods: Patients diagnosed with breast cancer meeting the EUSOBI and EUSOMA criteria for preoperative breast MRI routinely undergo mammography and ultrasound before MRI at our institution. Incidental suspicious breast lesions detected in MRI are biopsied. We included patients diagnosed with invasive breast cancers between 2014 and 2019 who underwent preoperative breast MRI. One reader retrospectively determined breast density categories according to the 5th edition of the BI-RADS lexicon. Results: Of 946 patients with 973 malignant primary breast tumors, 166 (17.5%) had a total of 175 (18.0%) incidental MRI-detected lesions (82 (46.9%) malignant and 93 (53.1%) benign). High breast density according to BI-RADS was associated with higher incidence of all incidental enhancing lesions in preoperative breast MRIs: 2.66 (95% confidence interval: 1.03–6.86) higher for BI-RADS density category B, 2.68 (1.04–6.92) for category C, and 3.67 (1.36–9.93) for category D compared to category A (p < 0.05). However, high breast density did not predict higher incidence of malignant incidental lesions (p = 0.741). Incidental MRI-detected lesions in the contralateral breast were more likely benign (p < 0.001): 18 (27.3%)/48 (72.7%) vs. 64 (58.7%)/45 (41.3%) malignant/benign incidental lesions in contralateral vs. ipsilateral breasts. Conclusion: Women diagnosed with breast cancer who have dense breasts have more incidental MRI-detected lesions, but higher breast density does not translate to increased likelihood of malignant incidental lesions. Clinical relevance statement: Dense breasts should not be considered as an indication for preoperative breast MRI in women diagnosed with breast cancer. Key points: • The role of preoperati

Bakgrund: Antalet datortomografiundersökningar (DT-undersökningar) har ökat kraftigt i Sverige och den kollektiva stråldosen till befolkningen blir allt högre. DT-undersökningar av buken är en av de undersökningarna som ger högst stråldos till patienten, därför är det viktigt att de endast görs när det krävs för att ställa diagnos. Därmed kan det vara relevant att undersöka huruvida antalet undersökningar också lett till ökat antal patologiska fynd hos patienter. Syfte: Undersöka hur många akuta DT-undersökningar med intravenös kontrast av buken som gjordes vid två sjukhus och hur stor andel av dessa som påvisade patologiska fynd. Metod: För att besvara syftet gjordes en kvantitativ retrospektiv studie där röntgenremisser och röntgensvar från mars 2013, mars 2018 och mars 2023 analyserades. Resultat: Antalet akuta DT-bukundersökningar med intravenös kontrast har ökat vid sjukhusen med i genomsnitt 49,5% mellan 2018–2023. Den mest markanta ökningen sågs i åldrarna 50–80 år. Vid Sjukhus 1 hade andelen fynd ökat från 57,5% i mars 2013 till 72,4% i mars 2023, samtidigt som andelen fynd vid Sjukhus 2 i stället minskat från 54% i mars 2018 till 46,3% i mars 2023. De vanligaste fynden vid de två sjukhusen var ileus/subileus, appendicit och kolecystit/gallsten/vidgade gallvägar. Könsfördelningen visade att något fler kvinnor än män genomgick akut DT buk med iv. kontrast, (Sjukhus 1: 54% kvinnor och Sjukhus 2: 55% kvinnor). Slutsatser: Det har vid båda sjukhusen skett en ökning av antalet undersökningar men utvecklingen av andelen fynd har gått i två olika riktningar. De vanligaste patologiska fynden som görs skulle kunna ställas med hjälp av andra modaliteter med låg eller ingen stråldos, såsom konventionell röntgen eller ultraljud. Ökningen av antalet akut DT-buk med iv. kontrast har medfört en ökad arbetsbelastning för röntgensjuksköterskor.

In recent years, an exponential increase in the number of cholecystectomies performed around the world has been observed. This increase is associated with a higher incidence of gallbladder cancer, which is currently diagnosed accidentally in most cases, during or after a cholecystectomy. Given that it is not uncommon for general surgeons to incidentally identify gallbladder cancer during emergency or elective abdominal surgery, at some point in their professional practice, it is of vital importance for the profession to know how to carry out a basic practical approach to this entity, and what are the minimum surgical principles that must be followed in order not to compromise the patient's oncological prognosis., En los últimos años se ha observado un incremento exponencial en el número de colecistectomías realizadas alrededor del mundo. A este aumento se asocia una mayor incidencia de cáncer de vesícula biliar, el cual se diagnostica actualmente de forma accidental en la mayoría de los casos, durante o tras la realización de una colecistectomía. Dado que no es infrecuente que el cirujano general y del aparato digestivo identifique incidentalmente un cáncer de vesícula biliar durante una cirugía abdominal de urgencia o electiva, en algún momento de su ejercicio profesional, resulta de vital importancia para el gremio saber como realizar un abordaje básico práctico de esta entidad, y cuales son principios quirúrgicos mínimos que se deben seguir con el objetivo de no comprometer el pronóstico oncológico del paciente.

AbstractGermline genome sequencing (GS) holds great promise for cancer prevention by identifying cancer risk and guiding prevention strategies, however research evidence is mixed regarding patient preferences for receiving GS results. The aim of this study was to discern preferences for return of results by cancer patients who have actually undergone GS. We conducted a mixed methods study with a cohort of cancer probands (n = 335) and their genetic relatives (n = 199) undergoing GS in a research setting. Both groups completed surveys when giving consent. A subset of participants (n = 40) completed semi-structured interviews. A significantly higher percentage of probands thought people would like to be informed about genetic conditions for which there is prevention or treatment that can change cancer risk compared to conditions for which there is no prevention or treatment (93% [311] versus 65% [216]; p < 0.001). Similar results were obtained for relatives (91% [180] versus 61% [121]; p < 0.001). Themes identified in the analysis of interviews were: (1) Recognised benefits of GS, (2) Balancing benefits with risks, (3) Uncertain results are perceived as unhelpful and (4) Competing obligations. While utility was an important discriminator in what was seen as valuable for this cohort, there was a variety of responses. In view of varied participant preferences regarding return of results, it is important to ensure patient understanding of test validity and identify individual choices at the time of consent to GS. The nature and value of the information, and a contextual understanding of researcher obligations should guide res

Background and purposeThere is limited literature on the prevalence of incidental brain MRI findings in the Hispanic/Latino population, despite their increased prevalence of vascular disease and undertreatment of chronic conditions. The purpose of our study was to determine the prevalence of clinically relevant incidental findings on brain MRI examinations obtained as a part of the Study of Latinos-Investigation of NeuroCognitive Aging MRI (SOL-INCA-MRI) study.MethodsBrain MRI examinations were obtained on 1389 participants in the SOL-INCA-MRI study, a cross-sectional ancillary study of the Hispanic Community Health Study, Study of Latinos, which is a longitudinal, community-based study. Study design of SOL-INCA-MRI involves imaging cognitively normal and participants with mild cognitive impairment. Brain MRI findings were categorized as Level 1 (normal), Level 1.5 (findings of unclear medical significance), Level 2 (potential medical concern), or Level 3 (medically urgent). This article focuses on Level 2 and Level 3 findings.ResultsThe average age of the sample was 60.8 years (+/- 10.3 years), 66.1% were females. Level 2 and 3 findings were identified in 117 participants, (8.4%), of which 109 (7.8%) were recommended for medical follow-up (Level 2), and 8 (0.6%) were recommended for immediate medical attention (Level 3). Brain MRI findings consisted of chronic infarction in 33 (2.4%), vascular abnormality in 27 (1.9%), intracranial mass in 20 (1.4%), other intracranial findings in 28 (2.0%), and skull base/extracranial findings in 26 (1.9%) patients.ConclusionIncidental findings of clinical relevance were common among SOL-INCA-MRI participants, but rarely required urgent medical intervention.

Lipomas are common benign mesenchymal neoplasms. Although 13% of lipomas are found in the head and neck, only 0.6% have been reported in the larynx. Of all lipomas, the spindle cell variant is the least common. In the present study, we report a case of supraglottic spindle cell lipoma and review the literature of laryngeal spindle cell lipoma. A 35-year-old male presented with dysphagia and dyspnea and was found to have bilateral supraglottic lesions causing airway obstruction. The masses were resected endoscopically. Final pathology demonstrated mature adipocytes and spindle cells, with immunohistochemical patterns supportive of spindle cell lipoma. Spindle cell lipomas have rarely been reported in the upper airway. To our knowledge, this is the youngest patient reported to date. These lipomas are uncommon benign neoplasms and should be distinguished from aggressive mesenchymal neoplasms such as liposarcoma variants to guide appropriate conservative but curative therapy.

ObjectiveThe aim of the study was to determine the prevalence of clinically important masses among incidental hyperenhancing liver observations on portal venous phase computed tomography (CT) in patients without known malignancy or liver disease.MethodsRetrospective search of portal venous phase CTs was performed to identify hyperenhancing liver observations in patients without cancer or liver disease. Observations were assigned a morphology of homogeneous, hemangioma, or heterogeneous. The reference standard was pathology (n = 2), liver protocol CT/magnetic resonance imaging (n = 40), follow-up portal venous phase CT for 2 years or more (n = 81), or clinical follow-up for 5 years or more (n = 107).ResultsThere were no clinically important masses among 83 observations with homogeneous morphology or 110 with hemangioma morphology. There were 2 clinically important masses (1 hepatocellular carcinoma and 1 hepatic adenoma) among 37 (5.4%) heterogeneous morphology observations.ConclusionsIncidental hyperenhancing liver observations on portal venous phase CT with homogeneous or typical hemangioma morphology in patients without known cancer or liver disease are highly likely benign.

In a previous study we found that parents of children with developmental delay (DD) favoured acceptance of unsolicited findings (UFs) for medically actionable conditions in childhood, but that preferences diverged for UFs with no medical actionability, or only in adulthood, and regarding carrier status. Sometimes the child's future autonomy formed a reason for withholding UFs for the present, despite an unfavourable prognosis concerning the child's cognitive capabilities. This might be different for children undergoing whole exome sequencing (WES) for reasons other than DD and who are expected to exert future autonomy. This is the focus of the current study. We conducted nine qualitative, semi-structured interviews with parents of children, ages <1-15, after consenting to WES, but prior to feedback of results, and with three adolescent children. Several parents wished to receive any information that might in whatever way be relevant to the health and well-being of their child, and to a lesser extent wished the inclusion of information about non-actionable disorders and information concerning carrier status of autosomal recessive disorders. Although parents understood the rationale behind the centre's UFs disclosure policy, they also felt that they needed this information in order to be able to exert their parental responsibility and take good care of a child still dependent on them. Parents reason from their notion of parental responsibility but are also inclined to take adolescent children's preferences seriously and acknowledge the child's incipient autonomy as a ground for granting an increasing degree of self-determination on the road to adulthood.

In debates about genetic testing of children, as well as about disclosing unsolicited findings (UFs) of pediatric exome sequencing, respect for future autonomy should be regarded as a prima facie consideration for not taking steps that would entail denying the future adult the opportunity to decide for herself about what to know about her own genome. While the argument can be overridden when other, morally more weighty considerations are at stake, whether this is the case can only be determined in concrete cases. Importantly, when children grow into adolescents, respect for future autonomy will have to give way to respecting their emerging autonomy. When pediatric exome sequencing is done for complex conditions not involving developmental delay, respect for the child's future or emerging autonomy should be a primary consideration for those charged with deciding on behalf of the child. Building on what Emanuel and Emanuel have termed the 'deliberative model' of shared decision making, we argue that if parents fail to give these considerations their due, professionals should actively invite them to do so. Taking a directive stance may be needed in order to make sure that the future or emerging autonomy of the child are duly considered in the decision-making process, but also to help the parents and themselves to shape their respective roles as responsible care-givers.

Pituitary incidentalomas (PI) are lesions of the pituitary region discovered fortuitously by imaging for reasons unrelated to pituitary disease. They range from small cysts to large invasive adenomas. All over the world, improvements in the quality and availability of radiological examinations are leading to an increase in the discovery of PI. In the last four decades, significant advances have been made in the understanding of PI. Autopsy studies have shown that about 10% of deceased individuals harbour a PI, most often a non-functioning microadenoma. In contrast, modern patient series showed that among PIs that come to endocrinological attention, a significant proportion are macroadenomas, and many patients suffer from asymptomatic or pauci-symptomatic endocrine or ophthalmologic disturbances. Other than adenomas, empty sella, Rathke's cleft cyst, craniopharyngioma and meningioma are the most frequent types of PIs. About 10% of micro-incidentalomas and 25% of macro-incidentalomas grow over time. Most cases can be managed conservatively by mere surveillance. Follow-up is necessary in all patients with macroadenoma, but uncertainty remains for microadenomas as to the extent of endocrinological work-up as well as the necessity and duration of follow-up. Visual and endocrine anomalies constitute the most common indications for surgery. When needed, surgery yields better outcome in PIs than in symptomatic pituitary lesions.

Background: Magnetic resonance imaging (MRI) is a common diagnostic technique in medicine. However, a limited understanding of its incidental findings may lead to unnecessary control imaging. The assistance resources needed especially in small children who require sedation for imaging are limited. Imaging should be targeted to those who need it most. Aims: To examine the importance of MRI in diagnosing pineal cysts and mild intellectual disability (ID) in children, and in the treatment of Chiari 1 malformation (CM1). The need for follow-up imaging of the late vertebral side effects of pediatric brain tumor treatments was also assessed. Methods: The MRI studies and clinical information of 81 children with pineal cysts, 305 children with mild ID, and 51 patients with operated CM1 were analyzed retrospectively. A total of 72 spinal MRI images of adults obtained in a prospective study concerning the late side effects of childhood brain tumor treatments on vertebral structure were evaluated. Results: In almost each of the cases analyzed in this study, the pineal cyst remained stable in size, and its radiological appearance did not change in the follow-up. The children with mild ID had remarkably fewer imaging findings than the children with a more severe form of ID. Only 1% of the children with mild ID had significant imaging findings if there were no other symptoms. In half of the CM1 patients, the location of the cerebellar tonsils moved cranially and in most of the patients the size of the syrinx decreased after surgery. However, there were no significant measurement values that could predict the surgical outcome of CM1. The imaging parameters did not appear to be correlated with the symptoms of CM1. Significant morphological changes of the vertebra and non-traumatic fractures were found in the childhood brain tumor survivors. Conclusion: MRI follow-up of pineal cysts is not recommended in the absence of unusual radiological characteristics or compression cau, Tiivistelmä Tausta: Magneettikuvaus (MK) on nykylääketieteen käytetyin keskushermoston kuvantamismenetelmä. Puutteellinen tietämys sattumalöydösten merkityksestä voi johtaa turhiin kontrollikuvantamisiin. Resurssit ovat rajalliset MK:n suhteen etenkin pienillä lapsilla, jotka yleensä tarvitsevat anestesiaa kuvauksen ajaksi, mikä taas vaatii ylimääräistä hoitohenkilökuntaa. MK tulisi kohdistaa potilaille, jotka tarvitsevat sitä eniten. Tavoitteet: Tässä tutkimuksessa arvioitiin MK:n merkitystä diagnostiikassa lapsilla, joilla on käpylisäkkeen kysta tai lievä älyllinen kehitysvamma. Chiari tyypin 1 epämuodostuma (CM1) -potilailla selvitettiin MK:n merkitystä diagnostiikassa ja sen tarpeellisuutta leikkaushoidon jälkeisessä seurannassa. Lapsuuden aivokasvainhoitojen myöhäisvaikutuksia selkärankaan arvioitiin MK-seurannan tarpeellisuuden selvittämiseksi. Menetelmät: Magneettikuvat ja kliiniset tiedot analysoitiin retrospektiivisesti 81 lapsella, joilla oli käpylisäkkeen kysta, 305 lapsella, joilla oli lievä älyllinen kehitysvamma ja 51 potilaalla, joita oli kirurgisesti hoidettu CM1 indikaatiolla. Selkärangan magneettikuvat ja kliiniset tiedot tutkittiin aikuisilta, joilta oli lapsuudessa hoidettu aivokasvain. Tulokset: Melkein kaikissa tapauksissa käpylisäkkeen kystat pysyivät sekä kooltaan että radiologisilta piirteiltään ennallaan. Lievästi kehitysvammaisilla oli huomattavasti vähemmän merkityksellisiä kuvantamislöydöksiä kuin vaikeammin kehitysvammaisilla lapsilla. Vain 1 %:lla tapauksista oli merkittävä kuvantamislöydös, jos muita oireita tai löydöksiä ei ollut kehitysvamman lisäksi. CM1-potilaiden leikkaustulos oli hyvä suurimmassa osassa tapauksista, sillä pikkuaivotonsillat siirtyivät kraniaalisuuntaan ja syringomyelia pieneni. Luotettavia mittausmenetelmiä, jotka olisivat korreloineet CM1-potilaiden oireisiin ei löydetty. Lapsuuden aivokasvaimesta ja sen hoidoista selvinneillä todettiin merkittäviä morfologisia muutoksia nikamissa ja jopa ei-traumaattisia murtu

Purpose: To assess the presence and pattern of incidental interstitial lung alterations suspicious of COVID-19 on fluorine-18-fluorodeoxyglucose positron emission tomography (PET)/computed tomography (CT) ([18F]FDG PET/CT) in asymptomatic oncological patients during the period of active COVID-19 in a country with high prevalence of the virus. Methods: This is a multi-center retrospective observational study involving 59 Italian centers. We retrospectively reviewed the prevalence of interstitial pneumonia detected during the COVID period (between March 16 and 27, 2020) and compared to a pre-COVID period (January–February 2020) and a control time (in 2019). The diagnosis of interstitial pneumonia was done considering lung alterations of CT of PET. Results: Overall, [18F]FDG PET/CT was performed on 4008 patients in the COVID period, 19,267 in the pre-COVID period, and 5513 in the control period. The rate of interstitial pneumonia suspicious for COVID-19 was significantly higher during the COVID period (7.1%) compared with that found in the pre-COVID (5.35%) and control periods (5.15%) (p < 0.001). Instead, no significant difference among pre-COVID and control periods was present. The prevalence of interstitial pneumonia detected at PET/CT was directly associated with geographic virus diffusion, with the higher rate in Northern Italy. Among 284 interstitial pneumonia detected during COVID period, 169 (59%) were FDG-avid (average SUVmax of 4.1). Conclusions: A significant increase of interstitial pneumonia incidentally detected with [18F]FDG PET/CT has been demonstrated during the COVID-19 pandemic. A majority of interstitial pneumonia were FDG-avid. Our results underlined the importance of paying attention to incidental CT findings of pneumonia detected at PET/CT, and these reports might help to recognize early COVID-19 cases guiding the subsequent management.

With advances in genomic research playing an important role in the development of clinical applications, it is important that ethical guidance for researchers is contemporary and relevant. In this article we analyse the relevant provisions in Australia's National Statement on Ethical Conduct in Human Research (revised in 2018) and consider the guidance it provides for contemporary genomics research. We analyse four key areas: genomic information; biobanking and use of human tissue; consent to participation in genomic research, including specific issues related to participation by children; and return of findings. We conclude that Australia's National Statement is well-placed to provide guidance to Australian researchers on issues relating to genomics, although there is scope for additional guidance on some issues related to consent.

OBJECTIVES: The aim was to evaluate the characteristics of the mandibular third molars, especially in relation to the inferior alveolar nerve. Further aims were to investigate incidental findings in panoramic radiographs in an adult population, and to investigate image quality related to patient positioning. MATERIALS AND METHODS: From a previous study with 451 randomly selected adult participants who lived in Sweden, 442 panoramic radiographs from four dental public health clinics were used. The third molars' characteristics and relation to inferior alveolar nerve were evaluated. Incidental findings and patient positioning were recorded. STATISTICAL ANALYSIS: Frequency analysis was used to investigate the occurrence of all findings and their possible interconnections. Whether the patients' age or gender had an impact or not was also analyzed. RESULTS: The third molars were erupted in vertical position among 73% regardless of age. When retained or semi-retained, they were most commonly in mesioangular positions. The inferior alveolar nerve was located inferior to the roots in 52%, whereas an overlapped position was most common if the third molar was retained (90%), semi-retained (83%) or the age was less than 30 years (66%). Common incidental findings were apical radiolucencies, idiopathic osteosclerosis, and tooth fragments. Suboptimal patient positioning was found in one-third of the radiographs. CONCLUSIONS: Panoramic radiography is a useful method to evaluate third molar prior to surgical removal and may be the only image required. Most incidental findings on panoramic radiographs does not seem to require any further odontological management.

OBJECTIVES: The aim was to evaluate the characteristics of the mandibular third molars, especially in relation to the inferior alveolar nerve. Further aims were to investigate incidental findings in panoramic radiographs in an adult population, and to investigate image quality related to patient positioning. MATERIALS AND METHODS: From a previous study with 451 randomly selected adult participants who lived in Sweden, 442 panoramic radiographs from four dental public health clinics were used. The third molars' characteristics and relation to inferior alveolar nerve were evaluated. Incidental findings and patient positioning were recorded. STATISTICAL ANALYSIS: Frequency analysis was used to investigate the occurrence of all findings and their possible interconnections. Whether the patients' age or gender had an impact or not was also analyzed. RESULTS: The third molars were erupted in vertical position among 73% regardless of age. When retained or semi-retained, they were most commonly in mesioangular positions. The inferior alveolar nerve was located inferior to the roots in 52%, whereas an overlapped position was most common if the third molar was retained (90%), semi-retained (83%) or the age was less than 30 years (66%). Common incidental findings were apical radiolucencies, idiopathic osteosclerosis, and tooth fragments. Suboptimal patient positioning was found in one-third of the radiographs. CONCLUSIONS: Panoramic radiography is a useful method to evaluate third molar prior to surgical removal and may be the only image required. Most incidental findings on panoramic radiographs does not seem to require any further odontological management.

BACKGROUND : DNA paternity testing constitutes a challenging area, particularly in Lebanon where there is no existing law to cover the different aspects of the test. This study aimed at exploring the perception of the general public on the various ethical and legal issues surrounding DNA testing, as an initial elementary step towards creating an appropriate legislative framework for paternity testing in Lebanon. METHODS : Data were collected from 300 Lebanese individuals aged 18 years and above through an online self-reported questionnaire. RESULTS : The majority of the respondents insisted on giving their informed consent prior to DNA testing, regardless who is requesting the test. Around three-quarters of participants think that paternity tests should be carried out in accredited laboratories, and almost all subjects (97.3%) highlighted the importance of creating a Law that regulates paternity tests in Lebanon. In terms of results communication and incidental findings disclosure, 66.3% of participants think that the results should be preferably communicated to the concerned person(s), and 64.0% required the presence of a psychologist. The vast majority of respondents prefer to be notified about misattributed paternity (90.3%) with women being significantly less comfortable with the disclosure than men (86.9% vs. 94.4%; P = 0.0492). Nevertheless, only 23% of individuals think that such results could be reported without prior consent to their family for the sake of beneficence. Moreover, both men and women had comparable perception towards reporting a misattributed paternity and the risk of violence against women (90.3% vs. 93.8%; P = 0.28). Finally, 78.7% of participants accepted the use of residual samples in future genetic analyses, but on condition of anonymity. CONCLUSION : Our findings shed the light on Lebanese individuals’ perception towards the protective role of the informed consent and the need for a legislative background in terms of privacy, autonomy, c

Cardiac mesothelial hyperplasia forming pale plaque lesions on the epicardial surface is a common incidental finding in the hearts of aged humans. A similar phenomenon with a more papillary appearance has also been reported as an incidental finding in dogs and mice. These lesions are believed to occur in response to friction between the epicardium and overlying pericardium. We investigated this lesion in adult cattle, a phenomenon that has been associated with bovine leukemia virus infection and epicardial lymphoma. We examined 73 hearts from adult cattle, predominantly of dairy breeds: 53 from a rendering facility and 20 from a state diagnostic laboratory. Cardiac mesothelial hyperplasia was much more prevalent in cattle than in other reported species (97% of examined hearts). The most common distribution was overlying the great vessels in a dark red papillary pattern. Cardiac mesothelial hyperplasia was also variably observed on all 4 cardiac chambers and the pericardium. Occasionally these lesions took on a smooth plaque-like appearance resembling those observed in humans. The lesions varied from 0.25 cm2 to covering 90% of the epicardial surface. No association was observed between cardiac mesothelial hyperplasia and bovine leukemia virus infection or cardiac lymphoma. Cardiac mesothelial hyperplasia was a common incidental finding in bovine hearts that must be distinguished from neoplasia and acute or chronic inflammation.

BackgroundDetection of cystic lesions of the pancreas has outpaced our ability to stratify low-grade cystic lesions from those at greater risk for pancreatic cancer, raising a concern for overtreatment.MethodsWe developed a Markov decision model to determine the cost-effectiveness of guideline-based management for asymptomatic pancreatic cysts. Incremental costs per quality-adjusted life year gained and survival were calculated for current management guidelines. A sensitivity analysis estimated the effect on cost-effectiveness and mortality if overtreatment of low-grade cysts is avoided, and the sensitivity and specificity thresholds required of methods of cyst stratification to improve costs expended.Results"Surveillance" using current management guidelines had an incremental cost-effectiveness ratio of $171,143/quality adjusted life year compared with no surveillance or operative treatment ("do nothing"). An incremental cost-effectiveness ratio for surveillance decreases to $80,707/quality adjusted life year if the operative overtreatment of low-grade cysts was avoided. Assuming a societal willingness-to-pay of $100,000/quality adjusted life year, the diagnostic specificity for high-risk cysts must be >67% for surveillance to be preferred over surgery and "do nothing." Changes in sensitivity alone cannot make surveillance cost-effective. Most importantly, survival in surveillance is worse than "do nothing" for 3 years after cyst diagnosis, although long-term survival is improved. The disadvantage is eliminated when overtreatment of low-grade cysts is avoided.ConclusionCurrent management of pancreatic cystic lesions is not cost-effective and may increase mortality owing to overtreatment of low-grade cysts. The specificity for risk stratification for high-risk cysts must be greater than 67% to make surveillance cost-effective.

This systematic review summarizes the current applications of 18F-FDG PET imaging in the diagnosis, staging, radiation treatment response assessment, and outcome prognostication of head and neck cancers. For head and neck cancers of unknown primary origin, 18F-FDG PET/CT increases the likelihood of identifying the primary tumor and establishing the diagnosis. 18F-FDG PET/CT is important in the accurate staging of locoregionally advanced cases of HNSCC, which can greatly affect recommendations for treatment. Following definitive chemoradiation, 18F-FDG PET/CT is validated as a means of treatment response assessment. Emerging PET tracers of hypoxia and their potential applications are reviewed.

Cardiac mesothelial hyperplasia forming pale plaque lesions on the epicardial surface is a common incidental finding in the hearts of aged humans. A similar phenomenon with a more papillary appearance has also been reported as an incidental finding in dogs and mice. These lesions are believed to occur in response to friction between the epicardium and overlying pericardium. We investigated this lesion in adult cattle, a phenomenon that has been associated with bovine leukemia virus infection and epicardial lymphoma. We examined 73 hearts from adult cattle, predominantly of dairy breeds: 53 from a rendering facility and 20 from a state diagnostic laboratory. Cardiac mesothelial hyperplasia was much more prevalent in cattle than in other reported species (97% of examined hearts). The most common distribution was overlying the great vessels in a dark red papillary pattern. Cardiac mesothelial hyperplasia was also variably observed on all 4 cardiac chambers and the pericardium. Occasionally these lesions took on a smooth plaque-like appearance resembling those observed in humans. The lesions varied from 0.25 cm2 to covering 90% of the epicardial surface. No association was observed between cardiac mesothelial hyperplasia and bovine leukemia virus infection or cardiac lymphoma. Cardiac mesothelial hyperplasia was a common incidental finding in bovine hearts that must be distinguished from neoplasia and acute or chronic inflammation.

BackgroundIncidental findings (IFs) are common among injured patients and create a complex problem with no standardized solution.Materials and methodsThis is a retrospective review of adult trauma patients admitted to a level I trauma center from January to May 2017. IFs from abdominal, chest, and neck imaging were categorized based on previously published guidelines focused on clinically significant IFs. Patient demographics related to access to care were collected. Outcome measures included documentation and patient notification of IFs. A univariate analysis was performed to identify characteristics that were associated with these outcomes.ResultsOf 1671 patients, 682 met inclusion criteria, and 418 (61.3%) had any IF based on the a priori categorization scheme. In total, 67 (9.8%) were homeless, 58 (8.5%) had no health insurance, and 115 (16.9%) had no established primary care provider prior to admission. Documentation of IFs was included in discharge summaries and instructions 76.5% and 40.2% of the time, respectively. Physicians were statistically more likely to appropriately document IFs when radiologists provided specific recommendations. Transfer to another hospital service prior to discharge and discharge to another acute care facility were associated with reduced rates of successful documentation. No factors significantly affected documentation of patient notification.ConclusionsTrauma patients are at risk for poor access to follow-up care of IFs. Expanding IF-specific guidelines, collaborating with radiologists to facilitate their inclusion in reports, and ensuring that IFs are part of patient hand-offs could provide systematic methods of improving their documentation.

This systematic review summarizes the current applications of 18F-FDG PET imaging in the diagnosis, staging, radiation treatment response assessment, and outcome prognostication of head and neck cancers. For head and neck cancers of unknown primary origin, 18F-FDG PET/CT increases the likelihood of identifying the primary tumor and establishing the diagnosis. 18F-FDG PET/CT is important in the accurate staging of locoregionally advanced cases of HNSCC, which can greatly affect recommendations for treatment. Following definitive chemoradiation, 18F-FDG PET/CT is validated as a means of treatment response assessment. Emerging PET tracers of hypoxia and their potential applications are reviewed.

BACKGROUND: It is unknown if incidental lymphopenia detected in the general population is associated with higher all-cause and cause-specific mortality. We aimed to identify the associations between lymphopenia and all-cause and cause specific mortality.METHODS: In a prospective cohort study, we examined and followed participants enrolled in the Copenhagen General Population Study between November 2003 and April 2015. In our analysis, we modelled risks using Cox proportional hazards regression for 3 groups: participants with a lymphocyte count below the 2.5th percentile; those with a lymphocyte count at or between the 2.5th and 97.5th percentiles (reference category); and those with a lymphocyte count above the 97.5th percentile.RESULTS: The cohort included 108 135 participants with a median age of 68 years. During a median follow-up of 9 (interquartile range [IQR] 0-14) years, 10 372 participants died. We found that participants with lymphopenia (lymphocyte count < 1.1 × 109/L) compared with those with a lymphocyte count in the reference range (1.1-3.7 × 109/L) had higher mortality with multivariable adjusted hazard ratios (HRs) of 1.63 (95% confidence interval [CI] 1.51-1.76) for all causes, 1.67 (95% CI 1.42-1.97) for nonhematologic cancers, 2.79 (95% CI 1.82-4.28) for hematologic cancers, 1.88 (95% CI 1.61-2.20) for cardiovascular diseases, 1.88 (95% CI 1.55-2.29) for respiratory diseases, 1.86 (95% CI 1.53-2.25) for infectious diseases, and 1.50 (95% CI 1.19-1.88) for other causes. For all-cause mortality, the highest absolute 2-year risks of death were observed in women (61%) and men (75%) who smoked and were aged 80 years or older with lymphocyte counts less than 0.5 × 109/L. Participants with a lymphocyte count higher than the reference category had increased mortality (adjusted HR 1.17, 95% CI 1.04-1.31).INTERPRETATION: We found that lymphopenia was associated with an increased risk of all-cause and cause-specific mortality.

The term interstitial lung abnormalities refers to specific CT findings that are potentially compatible with interstitial lung disease in patients without clinical suspicion of the disease. Interstitial lung abnormalities are increasingly recognised as a common feature on CT of the lung in older individuals, occurring in 4–9% of smokers and 2–7% of non-smokers. Identification of interstitial lung abnormalities will increase with implementation of lung cancer screening, along with increased use of CT for other diagnostic purposes. These abnormalities are associated with radiological progression, increased mortality, and the risk of complications from medical interventions, such as chemotherapy and surgery. Management requires distinguishing interstitial lung abnormalities that represent clinically significant interstitial lung disease from those that are subclinical. In particular, it is important to identify the subpleural fibrotic subtype, which is more likely to progress and to be associated with mortality. This multidisciplinary Position Paper by the Fleischner Society addresses important issues regarding interstitial lung abnormalities, including standardisation of the definition and terminology; predisposing risk factors; clinical outcomes; options for initial evaluation, monitoring, and management; the role of quantitative evaluation; and future research needs.

Purpose: The American College of Radiology (ACR) Actionable Reporting Work Group defined three categories of imaging findings that require additional, nonroutine communication with

Background: There are limited data on the impact of feedback of incidental findings (IFs) from research imaging. We evaluated the impact of UK Biobank’s protocol for handling potentially serious IFs in a multi-modal imaging study of 100,000 participants (radiographer ‘flagging’ with radiologist confirmation of potentially serious IFs) compared with systematic radiologist review of all images. Methods: Brain, cardiac and body magnetic resonance, and dual-energy x-ray absorptiometry scans from the first 1000 imaged UK Biobank participants were independently assessed for potentially serious IFs using both protocols. We surveyed participants with potentially serious IFs and their GPs up to six months after imaging to determine subsequent clinical assessments, final diagnoses, emotional, financial and work or activity impacts. Results: Compared to systematic radiologist review, radiographer flagging resulted in substantially fewer participants with potentially serious IFs (179/1000 [17.9%] versus 18/1000 [1.8%]) and a higher proportion with serious final diagnoses (21/179 [11.7%] versus 5/18 [27.8%]). Radiographer flagging missed 16/21 serious final diagnoses (i.e., false negatives), while systematic radiologist review generated large numbers of

Cardiac mesothelial hyperplasia forming pale plaque lesions on the epicardial surface is a common incidental finding in the hearts of aged humans. A similar phenomenon with a more papillary appearance has also been reported as an incidental finding in dogs and mice. These lesions are believed to occur in response to friction between the epicardium and overlying pericardium. We investigated this lesion in adult cattle, a phenomenon that has been associated with bovine leukemia virus infection and epicardial lymphoma. We examined 73 hearts from adult cattle, predominantly of dairy breeds: 53 from a rendering facility and 20 from a state diagnostic laboratory. Cardiac mesothelial hyperplasia was much more prevalent in cattle than in other reported species (97% of examined hearts). The most common distribution was overlying the great vessels in a dark red papillary pattern. Cardiac mesothelial hyperplasia was also variably observed on all 4 cardiac chambers and the pericardium. Occasionally these lesions took on a smooth plaque-like appearance resembling those observed in humans. The lesions varied from 0.25 cm2 to covering 90% of the epicardial surface. No association was observed between cardiac mesothelial hyperplasia and bovine leukemia virus infection or cardiac lymphoma. Cardiac mesothelial hyperplasia was a common incidental finding in bovine hearts that must be distinguished from neoplasia and acute or chronic inflammation.

BackgroundIncidental findings (IFs) are common among injured patients and create a complex problem with no standardized solution.Materials and methodsThis is a retrospective review of adult trauma patients admitted to a level I trauma center from January to May 2017. IFs from abdominal, chest, and neck imaging were categorized based on previously published guidelines focused on clinically significant IFs. Patient demographics related to access to care were collected. Outcome measures included documentation and patient notification of IFs. A univariate analysis was performed to identify characteristics that were associated with these outcomes.ResultsOf 1671 patients, 682 met inclusion criteria, and 418 (61.3%) had any IF based on the a priori categorization scheme. In total, 67 (9.8%) were homeless, 58 (8.5%) had no health insurance, and 115 (16.9%) had no established primary care provider prior to admission. Documentation of IFs was included in discharge summaries and instructions 76.5% and 40.2% of the time, respectively. Physicians were statistically more likely to appropriately document IFs when radiologists provided specific recommendations. Transfer to another hospital service prior to discharge and discharge to another acute care facility were associated with reduced rates of successful documentation. No factors significantly affected documentation of patient notification.ConclusionsTrauma patients are at risk for poor access to follow-up care of IFs. Expanding IF-specific guidelines, collaborating with radiologists to facilitate their inclusion in reports, and ensuring that IFs are part of patient hand-offs could provide systematic methods of improving their documentation.

Background Though incidental pulmonary nodules are common, rates of guideline-recommended surveillance and associations between surveillance and mortality are unclear. In this study, we describe adherence (categorized as complete, partial, late and none) to guideline-recommended surveillance among patients with incidental 5-8 mm pulmonary nodules and assess associations between adherence and mortality. Methods This was a retrospective cohort study of 551 patients (≥35 years) with incidental pulmonary nodules conducted from September 1, 2008 to December 31, 2016, in an integrated safety-net health network. Results Of the 551 patients, 156 (28%) had complete, 87 (16%) had partial, 93 (17%) had late and 215 (39%) had no documented surveillance. Patients were followed for a median of 5.2 years [interquartile range (IQR), 3.6-6.7 years] and 82 (15%) died during follow-up. Adjusted all-cause mortality rates ranged from 2.24 [95% confidence interval (CI), 1.24-3.25] deaths per 100 person-years for complete follow-up to 3.30 (95% CI, 2.36-4.23) for no follow-up. In multivariable models, there were no statistically significant associations between the levels of surveillance and mortality (p > 0.16 for each comparison with complete surveillance). Compared with complete surveillance, adjusted mortality rates were non-significantly increased by 0.45 deaths per 100 person-years (95% CI, -1.10 to 2.01) for partial, 0.55 (95% CI, -1.08 to 2.17) for late and 1.05 (95% CI, -0.35 to 2.45) for no surveillance. Conclusions Although guideline-recommended surveillance of small incidental pulmonary nodules was incomplete or absent in most patients, gaps in surveillance were not associated with statistically significant increases in mortality in a safety-net population.

Persistent left superior vena cava is the most common congenital anomaly of thoracic venous return, which results when the left anterior cardinal vein fails to regress. A 41-year-old African American male with a history of an unspecified childhood cardiac murmur presented to the emergency department with congestive heart failure exacerbation revealing an incidental finding of a persistent left superior vena cava. Ultimately, he required implantable cardioverter defibrillator placement and cardiac transplantation assessment. In the setting of advanced device placement or cardiac transplantation, a persistent left superior vena cava warrants several important clinical considerations at a center capable of addressing the possibility of a right-sided approach and transplantation irregularities.

ObjectivesThis study assessed the utility of the pooled cohort equation (PCE) and/or coronary artery calcium (CAC) for atherosclerotic cardiovascular disease (ASCVD) risk assessment in smokers, especially those who were lung cancer screening eligible (LCSE).BackgroundThe U.S. Preventive Services Task Force recommended and the Centers for Medicare & Medicaid Services currently pays for annual screening for lung cancer with low-dose computed tomography scans in a specified group of cigarette smokers. CAC can be obtained from these low-dose scans. The incremental utility of CAC for ASCVD risk stratification remains unclear in this high-risk group.MethodsOf 6,814 MESA (Multi-Ethnic Study of Atherosclerosis) participants, 3,356 (49.2% of total cohort) were smokers (2,476 former and 880 current), and 14.3% were LCSE. Kaplan-Meier, Cox proportional hazards, area under the curve, and net reclassification improvement (NRI) analyses were used to assess the association between PCE and/or CAC and incident ASCVD. Incident ASCVD was defined as coronary death, nonfatal myocardial infarction, or fatal or nonfatal stroke.ResultsSmokers had a mean age of 62.1 years, 43.5% were female, and all had a mean of 23.0 pack-years of smoking. The LCSE sample had a mean age of 65.3 years, 39.1% were female, and all had a mean of 56.7 pack-years of smoking. After a mean of 11.1 years of follow-up 13.4% of all smokers and 20.8% of LCSE smokers had ASCVD events; 6.7% of all smokers and 14.2% of LCSE smokers with CAC = 0 had an ASCVD event during the follow-up. One SD increase in the PCE 10-year risk was associated with a 68% increase risk for ASCVD events in all smokers (hazard ratio: 1.68; 95% confidence interval: 1.57 to 1.80) and a 22% increase in risk for ASCVD events in the LCSE smokers (hazard ratio: 1.22; 95% confidence interval: 1.00 to 1.47). CAC was associated with increased ASCVD risk in all smokers and in LCSE s

ObjectiveThe aim of this study was to determine the prevalence and computed tomography (CT) features of malignancy in incidental focal fundal gallbladder wall thickening.MethodsPatients with incidental focal fundal gallbladder wall thickening on CT were included if they had an ultrasound or magnetic resonance imaging diagnostic of the etiology (n = 19), stability on CT for 1 year (n = 84), or pathological correlation (n = 13). Morphologies were classified as type 1 (nodular/pinched intramural low attenuation), type 2 (intramural low attenuation), type 3 (homogeneous enhancement), type 4 (nodular/pinched homogeneous enhancement), type 5 (intramural cystic spaces), or type 6 (hyperenhancing/heterogeneous enhancement).ResultsOne hundred sixteen patients had the following morphologies: type 1 (n = 57), type 2 (n = 10), type 3 (n = 6), type 4 (n = 19), type 5 (n = 14), and type 6 (n = 10). Four cases (3.4%; 95% confidence interval, 0.9%-8.6%) of malignancy were identified (type 6 in 3 and type 3 in 1).ConclusionsIncidental focal fundal gallbladder wall thickening is usually benign. Computed tomography features help distinguish benign from malignant etiologies.

We present a case of oropharyngeal squamous cell carcinoma (SCC) of the tongue base incidentally detected on F-fluciclovine PET/CT. A 79-year-old man with history of locally advanced prostate cancer (Gleason score 4 + 5 = 9; cT2cN1M0) previously treated with androgen deprivation therapy (luprolide + bicalutamide) presented with a slowly rising serum prostate-specific antigen over 3 years, concerning for recurrent disease. F-fluciclovine PET/CT, obtained to identify potential sites of recurrence, demonstrated prostate bed uptake with possible left seminal vesicle involvement. Additionally, an exophytic, tracer-avid right tongue base mass was incidentally noted and later confirmed to be p16+ SCC on biopsy.

Purpose: This study aims to determine research participants’ preferences for receiving genetic risk information when participating in a scientific study that uses genome sequencing. Methods: A discrete choice experiment questionnaire was sent to 650 research participants (response rate 60.5%). Four attributes were selected for the questionnaire: type of disease, disease penetrance probability, preventive opportunity, and effectiveness of the preventive measure. Panel mixed logit models were used to determine attribute level estimates and the heterogeneity in preferences. Relative importance of the attribute and the predicted uptake for different information scenarios were calculated from the estimates. In addition, this study estimates predicted uptake for receiving genetic risk information in different scenarios. Results: All characteristics influenced research participants’ willingness to receive genetic risk information. The most important characteristic was the effectiveness of the preventive opportunity. Predicted uptake ranged between 28% and 98% depending on what preventive opportunities and levels of effectiveness were presented. Conclusion: Information about an effective preventive measure was most important for participants. They valued that attribute twice as much as the other attributes. Therefore, when there is an effective preventive measure, risk communication can be less concerned with the magnitude of the probability of developing disease.

We present a case of oropharyngeal squamous cell carcinoma (SCC) of the tongue base incidentally detected on F-fluciclovine PET/CT. A 79-year-old man with history of locally advanced prostate cancer (Gleason score 4 + 5 = 9; cT2cN1M0) previously treated with androgen deprivation therapy (luprolide + bicalutamide) presented with a slowly rising serum prostate-specific antigen over 3 years, concerning for recurrent disease. F-fluciclovine PET/CT, obtained to identify potential sites of recurrence, demonstrated prostate bed uptake with possible left seminal vesicle involvement. Additionally, an exophytic, tracer-avid right tongue base mass was incidentally noted and later confirmed to be p16+ SCC on biopsy.

Giant coronary artery aneurysms are rare and have variable presentations, which range from an incidental finding to sudden death. We report a case of a female presenting with chest pain and signs of cardiac tamponade who underwent a computed tomography (CT) pulmonary embolus protocol and was found to have haemopericardium with accumulation of contrast adjacent to the aorta. She underwent emergent sternotomy and was found to have a ruptured giant right coronary artery aneurysm, which was ligated and bypassed. This report highlights the difficulty of diagnosing a ruptured giant coronary artery aneurysm via CT and provides valuable information on an atypical presentation.

BackgroundGuidelines for management of small adrenal incidentalomas are mutually inconsistent. No cost-effectiveness analysis has been performed to evaluate rigorously the relative merits of these strategies.MethodsWe constructed a decision-analytic model to evaluate surveillance strategies for <4cm, nonfunctional, benign-appearing adrenal incidentalomas. We evaluated 4 surveillance strategies: none, one-time, annual for 2 years, and annual for 5 years. Threshold and sensitivity analyses assessed robustness of the model. Costs were represented in 2016 US dollars and health outcomes in quality-adjusted life-years.ResultsNo surveillance has an expected net cost of $262 and 26.22 quality-adjusted life-years. One-time surveillance costs $158 more and adds 0.2 quality-adjusted life-years for an incremental cost-effectiveness ratio of $778/quality-adjusted life-years. The strategies involving more surveillance were dominated by the no surveillance and one-time surveillance strategies less effective and more expensive. Above a 0.7% prevalence of adrenocortical carcinoma, one-time surveillance was the most effective strategy. The results were robust to all sensitivity analyses of disease prevalence, sensitivity, and specificity of diagnostic assays and imaging as well as health state utility.ConclusionFor patients with a < 4cm, nonfunctional, benign-appearing mass, one-time follow-up evaluation involving a noncontrast computed tomography and biochemical evaluation is cost-effective. Strategies requiring more surveillance accrue more cost without incremental benefit.

BackgroundPulmonary nodule guidelines do not indicate how to individualize follow-up according to comorbidity or life expectancy.ObjectivesTo characterize comorbidity and life expectancy in older veterans with incidental, symptom-detected, or screen-detected nodules in 2008-09 compared to 2013-14. To determine the impact of these patient factors on four-year nodule follow-up among the 2008-09 subgroup.DesignRetrospective cohort study.SettingUrban Veterans Affairs Medical Center.Participants243 veterans age ≥65 with newly diagnosed pulmonary nodules in 2008-09 (followed for four years through 2012 or 2013) and 446 older veterans diagnosed in 2013-14.MeasurementsThe primary outcome was receipt of any follow-up nodule imaging and/or biopsy within four years after nodule diagnosis. Primary predictor variables included age, Charlson-Deyo Comorbidity Index (CCI), and life expectancy. Favorable life expectancy was defined as age 65-74 with CCI 0 while limited life expectancy was defined as age ≥85 with CCI ≥1 or age ≥65 with CCI ≥4. Interaction by nodule size was also examined.ResultsFrom 2008-09 to 2013-14, the number of older veterans diagnosed with new pulmonary nodules almost doubled, including among those with severe comorbidity and limited life expectancy. Overall among the 2008-09 subgroup, receipt of nodule follow-up decreased with increasing comorbidity (CCI ≥4 versus 0: adjusted RR 0.61, 95% CI 0.39-0.95) with a trend towards decreased follow-up among those with limited life expectancy (adjusted RR 0.69, 95% CI 0.48-1.01). However, we detected an interaction effect with nodule size such that comorbidity and life expectancy were associated with decreased follow-up only among those with nodules ≤6 mm.ConclusionsWe found some individualization of pulmonary nodule follow-up according to comorbidity and life expectancy in older veterans with smaller nodules only. As increased imaging detects nodules in sicker patients, guidelines need to be more explicit about how to

Inverted papilloma of the prostatic urethra is an especially rare finding. A 75-year-old man with urinary retention wished to proceed with a holmium laser enucleation of the prostate (HoLEP) and was found to have a mass arising from his prostate vs bladder on preoperative imaging. Cystourethroscopy revealed the mass arising from the median lobe of the prostate. After transurethral resection and frozen analysis confirmed the benign pathology of an inverted papilloma, the patient subsequently underwent a successful HoLEP during the same surgical setting. Images of this rare prostatic mass are presented to increase urologist recognition and to assist management during HoLEP.

This thesis contributes to the ethical discussion on how to handle incidental findings in biomedical research using sequencing technologies from a theoretical and an empirical perspective. Study I and II are theoretical studies that used conceptual analysis. Study I demonstrates that the argument for disclosure based on the principle of beneficence ignores the complexity and uncertain predictive value of genetic risk information. The argument neglects the distinction between an incidentally discovered disease and an incidentally discovered risk for disease with unclear predictive value. Study II investigates the proposal to let participants express their preferences to incidental genetic findings in the consent form. The study argues that this freedom of choice is problematic because it is uncertain whether the opportunity to choose in the consent phase enables people to express what they truly prefer. Participants might be steered to a specific answer depending on mood, triggered feelings, and the framing of the question. The second part of the thesis is empirical and used both a qualitative and a quantitative approach. Study III investigates research participants’ understanding of genetic risk and used a phenomenographic approach and focus group interviews. One result was that participants understood genetic risk in binary terms. This understanding involved an either/or concept of genetic risk. Participants tend not to understand genetic risk as a probability. They also interpreted the information in terms of their past, present, and future life. Study IV used a questionnaire with a stated preference technique called Discrete Choice Experiments (DCE) to investigate participants’ preferences for genetic risk information. An effective preventive measure was the most important characteristic for research participants in their decision to be given genetic risk information. When the disease was life threatening, had a high penetrance probability, and had effective prev

Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results. Fifty-four forms representing 38 laboratories/clinics were analyzed. A quarter of the forms did not mention UF or SF. Forms used a variety of terms to discuss UF and SF, sometimes using these interchangeably or incorrectly. Reporting policies for UF varied: 5 forms stated that UF will not be returned, 15 indicated UF may be returned, and 28 did not specify their policy. One-third indicated their laboratory returns SF. Addressing inconsistent terminology and providing sufficient information about UF/SF in consent forms will increase patient understanding and help ensure adequate informed consent., SIENNA project - Stakeholder-informed ethics for new technologies with high socio-economic and human rights impact

This thesis contributes to the ethical discussion on how to handle incidental findings in biomedical research using sequencing technologies from a theoretical and an empirical perspective. Study I and II are theoretical studies that used conceptual analysis. Study I demonstrates that the argument for disclosure based on the principle of beneficence ignores the complexity and uncertain predictive value of genetic risk information. The argument neglects the distinction between an incidentally discovered disease and an incidentally discovered risk for disease with unclear predictive value. Study II investigates the proposal to let participants express their preferences to incidental genetic findings in the consent form. The study argues that this freedom of choice is problematic because it is uncertain whether the opportunity to choose in the consent phase enables people to express what they truly prefer. Participants might be steered to a specific answer depending on mood, triggered feelings, and the framing of the question. The second part of the thesis is empirical and used both a qualitative and a quantitative approach. Study III investigates research participants’ understanding of genetic risk and used a phenomenographic approach and focus group interviews. One result was that participants understood genetic risk in binary terms. This understanding involved an either/or concept of genetic risk. Participants tend not to understand genetic risk as a probability. They also interpreted the information in terms of their past, present, and future life. Study IV used a questionnaire with a stated preference technique called Discrete Choice Experiments (DCE) to investigate participants’ preferences for genetic risk information. An effective preventive measure was the most important characteristic for research participants in their decision to be given genetic risk information. When the disease was life threatening, had a high penetrance probability, and had effective prev

Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results. Fifty-four forms representing 38 laboratories/clinics were analyzed. A quarter of the forms did not mention UF or SF. Forms used a variety of terms to discuss UF and SF, sometimes using these interchangeably or incorrectly. Reporting policies for UF varied: 5 forms stated that UF will not be returned, 15 indicated UF may be returned, and 28 did not specify their policy. One-third indicated their laboratory returns SF. Addressing inconsistent terminology and providing sufficient information about UF/SF in consent forms will increase patient understanding and help ensure adequate informed consent., SIENNA project - Stakeholder-informed ethics for new technologies with high socio-economic and human rights impact

This thesis contributes to the ethical discussion on how to handle incidental findings in biomedical research using sequencing technologies from a theoretical and an empirical perspective. Study I and II are theoretical studies that used conceptual analysis. Study I demonstrates that the argument for disclosure based on the principle of beneficence ignores the complexity and uncertain predictive value of genetic risk information. The argument neglects the distinction between an incidentally discovered disease and an incidentally discovered risk for disease with unclear predictive value. Study II investigates the proposal to let participants express their preferences to incidental genetic findings in the consent form. The study argues that this freedom of choice is problematic because it is uncertain whether the opportunity to choose in the consent phase enables people to express what they truly prefer. Participants might be steered to a specific answer depending on mood, triggered feelings, and the framing of the question. The second part of the thesis is empirical and used both a qualitative and a quantitative approach. Study III investigates research participants’ understanding of genetic risk and used a phenomenographic approach and focus group interviews. One result was that participants understood genetic risk in binary terms. This understanding involved an either/or concept of genetic risk. Participants tend not to understand genetic risk as a probability. They also interpreted the information in terms of their past, present, and future life. Study IV used a questionnaire with a stated preference technique called Discrete Choice Experiments (DCE) to investigate participants’ preferences for genetic risk information. An effective preventive measure was the most important characteristic for research participants in their decision to be given genetic risk information. When the disease was life threatening, had a high penetrance probability, and had effective prev

The relatively novel and dynamic science of genomics holds many unknowns for stakeholders, and in particular for researchers and clinicians, as well as for participants and patients. At a time when many authors predict a future in which genomic medicine will be the norm, it is particularly relevant to discuss the unknowns surrounding genetics and genomics, including the notions of risk and uncertainty. This article will present a discussion regarding the uncertainty pertaining specifically to high throughput sequencing approaches, including the topic of incidental findings. This discussion will be guided by a taxonomy of uncertainty conceptualised around three areas of uncertainty: the source of uncertainty, the issues of uncertainty and the loci of uncertainty. This taxonomy can be used as a tool by all stakeholders involved in genomics to help further understand and anticipate uncertainties in genomics. Furthermore, to better contextualize this information, and also because this contribution is born out of an international project titled Mind the Risk', which addresses risk information in genetics and genomics from many different disciplinary perspectives, another aim of this article is to briefly present the basic issues pertaining to the unknowns, risks, and uncertainties of genetics as well as genomics for an audience of non-geneticists. Ultimately, the mapping out of uncertainty in genomics should allow for a better characterization of the uncertainty and consequently for a better management and communication of these uncertainties to end-users (research participants and patients).

This thesis contributes to the ethical discussion on how to handle incidental findings in biomedical research using sequencing technologies from a theoretical and an empirical perspective. Study I and II are theoretical studies that used conceptual analysis. Study I demonstrates that the argument for disclosure based on the principle of beneficence ignores the complexity and uncertain predictive value of genetic risk information. The argument neglects the distinction between an incidentally discovered disease and an incidentally discovered risk for disease with unclear predictive value. Study II investigates the proposal to let participants express their preferences to incidental genetic findings in the consent form. The study argues that this freedom of choice is problematic because it is uncertain whether the opportunity to choose in the consent phase enables people to express what they truly prefer. Participants might be steered to a specific answer depending on mood, triggered feelings, and the framing of the question. The second part of the thesis is empirical and used both a qualitative and a quantitative approach. Study III investigates research participants’ understanding of genetic risk and used a phenomenographic approach and focus group interviews. One result was that participants understood genetic risk in binary terms. This understanding involved an either/or concept of genetic risk. Participants tend not to understand genetic risk as a probability. They also interpreted the information in terms of their past, present, and future life. Study IV used a questionnaire with a stated preference technique called Discrete Choice Experiments (DCE) to investigate participants’ preferences for genetic risk information. An effective preventive measure was the most important characteristic for research participants in their decision to be given genetic risk information. When the disease was life threatening, had a high penetrance probability, and had effective prev

Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results. Fifty-four forms representing 38 laboratories/clinics were analyzed. A quarter of the forms did not mention UF or SF. Forms used a variety of terms to discuss UF and SF, sometimes using these interchangeably or incorrectly. Reporting policies for UF varied: 5 forms stated that UF will not be returned, 15 indicated UF may be returned, and 28 did not specify their policy. One-third indicated their laboratory returns SF. Addressing inconsistent terminology and providing sufficient information about UF/SF in consent forms will increase patient understanding and help ensure adequate informed consent., SIENNA project - Stakeholder-informed ethics for new technologies with high socio-economic and human rights impact

Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results. Fifty-four forms representing 38 laboratories/clinics were analyzed. A quarter of the forms did not mention UF or SF. Forms used a variety of terms to discuss UF and SF, sometimes using these interchangeably or incorrectly. Reporting policies for UF varied: 5 forms stated that UF will not be returned, 15 indicated UF may be returned, and 28 did not specify their policy. One-third indicated their laboratory returns SF. Addressing inconsistent terminology and providing sufficient information about UF/SF in consent forms will increase patient understanding and help ensure adequate informed consent., SIENNA project - Stakeholder-informed ethics for new technologies with high socio-economic and human rights impact

Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results. Fifty-four forms representing 38 laboratories/clinics were analyzed. A quarter of the forms did not mention UF or SF. Forms used a variety of terms to discuss UF and SF, sometimes using these interchangeably or incorrectly. Reporting policies for UF varied: 5 forms stated that UF will not be returned, 15 indicated UF may be returned, and 28 did not specify their policy. One-third indicated their laboratory returns SF. Addressing inconsistent terminology and providing sufficient information about UF/SF in consent forms will increase patient understanding and help ensure adequate informed consent., SIENNA project - Stakeholder-informed ethics for new technologies with high socio-economic and human rights impact

This thesis contributes to the ethical discussion on how to handle incidental findings in biomedical research using sequencing technologies from a theoretical and an empirical perspective. Study I and II are theoretical studies that used conceptual analysis. Study I demonstrates that the argument for disclosure based on the principle of beneficence ignores the complexity and uncertain predictive value of genetic risk information. The argument neglects the distinction between an incidentally discovered disease and an incidentally discovered risk for disease with unclear predictive value. Study II investigates the proposal to let participants express their preferences to incidental genetic findings in the consent form. The study argues that this freedom of choice is problematic because it is uncertain whether the opportunity to choose in the consent phase enables people to express what they truly prefer. Participants might be steered to a specific answer depending on mood, triggered feelings, and the framing of the question. The second part of the thesis is empirical and used both a qualitative and a quantitative approach. Study III investigates research participants’ understanding of genetic risk and used a phenomenographic approach and focus group interviews. One result was that participants understood genetic risk in binary terms. This understanding involved an either/or concept of genetic risk. Participants tend not to understand genetic risk as a probability. They also interpreted the information in terms of their past, present, and future life. Study IV used a questionnaire with a stated preference technique called Discrete Choice Experiments (DCE) to investigate participants’ preferences for genetic risk information. An effective preventive measure was the most important characteristic for research participants in their decision to be given genetic risk information. When the disease was life threatening, had a high penetrance probability, and had effective prev