Association of Second-Opinion Strategies in the Histopathologic Diagnosis of Cutaneous Melanocytic Lesions With Diagnostic Accuracy and Population-Level Costs.

IMPORTANCE: Diagnostic variation among pathologists interpreting cutaneous melanocytic lesions could lead to suboptimal care. OBJECTIVE: To estimate the potential association of second-opinion strategies in the histopathologic diagnosis of cutaneous melanocytic lesions with diagnostic accuracy and 1-year population-level costs in the US. DESIGN, SETTING, AND PARTICIPANTS: Decision analysis with 1-year time horizon including melanocytic lesion diagnoses available from US pathologists participating in the Melanoma Pathology Study (M-Path) and from the study panel of reference pathologists who classified cases using the MPATH-Dx classification tool. M-Path data collection occurred from July 2013 through March 2015; analyses for the present study were performed between April 2015 and January 2021. EXPOSURES: Various second-opinion strategies for interpretation of melanocytic cutaneous lesions. MAIN OUTCOMES AND MEASURES: Estimated accuracy of pathologists' diagnoses, defined as concordance with the reference panel diagnoses, and 1-year postbiopsy medical costs under various second-opinion strategies. Expected percentage of concordant diagnoses, including percentages of overinterpretation and underinterpretation, and 1-year costs of medical care per 100 000 in the US population. RESULTS: Decision-analytic model parameters were based on diagnostic interpretations for 240 cases by 187 pathologists compared with reference panel diagnoses. Without second opinions, 83.2% of diagnoses in the US were estimated to be accurate-ie, concordant with the reference diagnosis; with overinterpretation (8.0%) or underinterpretation (8.8%), and 16 850 misclassified diagnoses per 100 000 biopsies. Accuracy increased under all second-opinion strategies. Accuracy (87.4% concordance with 3.6% overinterpretation and 9.1% underinterpretation) and cost (an increase of more than $10 million per 100 000 biopsies per year) were highest when second opinions were universal (eg, performed on all biopsies), relative to no second opinions. A selective second-opinion strategy based on pathologists' desire or institutional requirements for a second opinion was most accurate (86.5% concordance; 4.4% overinterpretation; 9.1% underinterpretation) and would reduce costs by more than $1.9 million per 100 000 skin biopsies relative to no second opinions. Improvements in diagnostic accuracy with all second-opinion strategies were associated with reductions in overinterpretation but not underinterpretation. CONCLUSIONS AND RELEVANCE: In this decision-analytic model, selective second-opinion strategies for interpretation of melanocytic skin lesions showed the potential to improve diagnostic accuracy and decrease costs relative to no second opinions or universal second opinions.

Use of an Online Breast Cancer Risk Assessment and Patient Decision Aid in Primary Care Practices.

Background: U.S. Preventive Services Task Force (USPSTF) recommendations for mammography screening, genetic counseling and testing for pathogenic BRCA1/2 mutations, and use of risk-reducing medications require assessment of breast cancer risk for clinical decision-making, but efficient methods for risk assessment in clinical practice are lacking. Materials and Methods: A cross-sectional study evaluating a web-based breast cancer risk assessment and decision aid (MammoScreen) was conducted in an academic general internal medicine clinic. All eligible women, 40-74 years of age without previous diagnosis of breast or ovarian cancer and who were enrolled in the Epic MyChart patient portal were invited. MammoScreen uptake and completion rates and consistency between breast cancer risk determined by MammoScreen and existing risk information in the Epic record were measured. Patient and physician experiences were summarized from interviews. Results: Of 448 invited participants, 339 (75.7%) read their MyChart invitation and 125 (36.9%) who read invitations enrolled in the study; 118 (94.4% of enrolled) completed MammoScreen. Twenty-one women were categorized as above-average risk from either MammoScreen data or the chart review and 7 (33.3%) were identified by both sources. Physicians and patients believed MammoScreen was easy to use and was helpful in identifying risks and facilitating shared decision-making. Conclusions: Breast cancer risk assessment and mammography screening decision support were efficiently implemented through a web-based tool for patients sent through an electronic patient portal. Integration of patient decision aids with risk algorithms in clinical practice may help support the implementation of USPSTF recommendations that include risk assessment and shared decision-making.

Achieving Health Equity in Preventive Services: A Systematic Review for a National Institutes of Health Pathways to Prevention Workshop.

Background: Disadvantaged populations in the United States experience disparities in the use of preventive health services. Purpose: To examine effects of barriers that create health disparities in 10 recommended preventive services for adults, and to evaluate the effectiveness of interventions to reduce them. Data Sources: English-language searches of Ovid MEDLINE, PsycINFO, SocINDEX, and the Veterans Affairs Health Services database (1 January 1996 to 5 July 2019); reference lists. Study Selection: Trials, observational studies with comparison groups, and systematic reviews of populations adversely affected by disparities that reported effects of barriers on use of any of the 10 selected preventive services or that reported the effectiveness of interventions to reduce disparities in use of a preventive service by improving intermediate or clinical outcomes. Data Extraction: Dual extraction and assessment of study quality, strength of evidence, and evidence applicability. Data Synthesis: No studies reported effects of provider-specific barriers on preventive service use. Eighteen studies reporting effects of patient barriers, such as insurance coverage or lack of a regular provider, on preventive service use had mixed and inconclusive findings. Studies of patient-provider interventions (n = 12), health information technologies (n = 11), and health system interventions (n = 88) indicated higher cancer screening rates with patient navigation; telephone calls, prompts, and other outreach methods; reminders involving lay health workers; patient education; risk assessment, counseling, and decision aids; screening checklists; community engagement; and provider training. Single studies showed that clinician-delivered and technology-assisted interventions improved rates of smoking cessation and weight loss, respectively. Limitation: Insufficient or low strength of evidence and applicability for most interventions except patient navigation, telephone calls and prompts, and reminders involving lay health workers. Conclusion: In populations adversely affected by disparities, patient navigation, telephone calls and prompts, and reminders involving lay health workers increase cancer screening. Primary Funding Source: National Institutes of Health Office of Disease Prevention through an interagency agreement with the Agency for Healthcare Research and Quality. (PROSPERO: CRD42018109263).

Assessment of Second-Opinion Strategies for Diagnoses of Cutaneous Melanocytic Lesions.

Importance: Histopathologic criteria have limited diagnostic reliability for a range of cutaneous melanocytic lesions. Objective: To evaluate the association of second-opinion strategies by general pathologists and dermatopathologists with the overall reliability of diagnosis of difficult melanocytic lesions. Design, Setting, and Participants: This diagnostic study used samples from the Melanoma Pathology Study, which comprises 240 melanocytic lesion samples selected from a dermatopathology laboratory in Bellevue, Washington, and represents the full spectrum of lesions from common nevi to invasive melanoma. Five sets of 48 samples were evaluated independently by 187 US pathologists from July 15, 2013, through May 23, 2016. Data analysis was performed from April 2016 through November 2017. Main Outcomes and Measures: Accuracy of diagnosis, defined as concordance with an expert consensus diagnosis of 3 experienced pathologists, was assessed after applying 10 different second-opinion strategies. Results: Among the 187 US pathologists examining the 24 lesion samples, 113 were general pathologists (65 men [57.5%]; mean age at survey, 53.7 years [range, 33.0-79.0 years]) and 74 were dermatopathologists (49 men [66.2%]; mean age at survey, 46.4 years [range, 33.0-77.0 years]). Among the 8976 initial case interpretations, physicians desired second opinions for 3899 (43.4%), most often for interpretation of severely dysplastic nevi. The overall misclassification rate was highest when interpretations did not include second opinions and initial reviewers were all general pathologists lacking subspecialty training (52.8%; 95% CI, 51.3%-54.3%). When considering different second opinion strategies, the misclassification of melanocytic lesions was lowest when the first, second, and third consulting reviewers were subspecialty-trained dermatopathologists and when all lesions were subject to second opinions (36.7%; 95% CI, 33.1%-40.7%). When the second opinion strategies were compared with single interpretations without second opinions, the reductions in misclassification rates for some of the strategies were statistically significant, but none of the strategies eliminated diagnostic misclassification. Melanocytic lesions in the middle of the diagnostic spectrum had the highest misclassification rates (eg, moderately or severely dysplastic nevus, Spitz nevus, melanoma in situ, and pathologic stage [p]T1a invasive melanoma). Variability of in situ and thin invasive melanoma was relatively intractable to all examined strategies. Conclusions and Relevance: The results of this study suggest that second opinions rendered by dermatopathologists improve reliability of melanocytic lesion diagnosis. However, discordance among pathologists remained high.

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.

Importance: Pathogenic mutations in breast cancer susceptibility genes BRCA1 and BRCA2 increase risks for breast, ovarian, fallopian tube, and peritoneal cancer in women; interventions reduce risk in mutation carriers. Objective: To update the 2013 US Preventive Services Task Force review on benefits and harms of risk assessment, genetic counseling, and genetic testing for BRCA1/2-related cancer in women. Data Sources: Cochrane libraries; MEDLINE, PsycINFO, EMBASE (January 1, 2013, to March 6, 2019, for updates; January 1, 1994, to March 6, 2019, for new key questions and populations); reference lists. Study Selection: Discriminatory accuracy studies, randomized clinical trials (RCTs), and observational studies of women without recently diagnosed BRCA1/2-related cancer. Data Extraction and Synthesis: Data on study methods, setting, population characteristics, eligibility criteria, interventions, numbers enrolled and lost to follow-up, outcome ascertainment, and results were abstracted. Two reviewers independently assessed study quality. Main Outcomes and Measures: Cancer incidence and mortality; discriminatory accuracy of risk assessment tools for BRCA1/2 mutations; benefits and harms of risk assessment, genetic counseling, genetic testing, and risk-reducing interventions. Results: For this review, 103 studies (110 articles; N = 92 712) were included. No studies evaluated the effectiveness of risk assessment, genetic counseling, and genetic testing in reducing incidence and mortality of BRCA1/2-related cancer. Fourteen studies (n = 43 813) of 8 risk assessment tools to guide referrals to genetic counseling demonstrated moderate to high accuracy (area under the receiver operating characteristic curve, 0.68-0.96). Twenty-eight studies (n = 8060) indicated that genetic counseling was associated with reduced breast cancer worry, anxiety, and depression; increased understanding of risk; and decreased intention for testing. Twenty studies (n = 4322) showed that breast cancer worry and anxiety were higher after testing for women with positive results and lower for others; understanding of risk was higher after testing. In 8 RCTs (n = 54 651), tamoxifen (relative risk [RR], 0.69 [95% CI, 0.59-0.84]; 4 trials), raloxifene (RR, 0.44 [95% CI, 0.24-0.80]; 2 trials), and aromatase inhibitors (RR, 0.45 [95% CI, 0.26-0.70]; 2 trials) were associated with lower risks of invasive breast cancer compared with placebo; results were not specific to mutation carriers. Mastectomy was associated with 90% to 100% reduction in breast cancer incidence (6 studies; n = 2546) and 81% to 100% reduction in breast cancer mortality (1 study; n = 639); oophorectomy was associated with 69% to 100% reduction in ovarian cancer (2 studies; n = 2108); complications were common with mastectomy. Conclusions and Relevance: Among women without recently diagnosed BRCA1/2-related cancer, the benefits and harms of risk assessment, genetic counseling, and genetic testing to reduce cancer incidence and mortality have not been directly evaluated by current research.

Short interpregnancy intervals and adverse maternal outcomes in high-resource settings: An updated systematic review.

BACKGROUND: Currently, no federal guidelines provide recommendations on healthy birth spacing for women in the United States. This systematic review summarises associations between short interpregnancy intervals and adverse maternal outcomes to inform the development of birth spacing recommendations for the United States. METHODS: PubMed/Medline, POPLINE, EMBASE, CINAHL, the Cochrane Database of Systematic Reviews, and a previous systematic review were searched to identify relevant articles published from 1 January 2006 and 1 May 2017. Included studies reported maternal health outcomes following a short versus longer interpregnancy interval, were conducted in high-resource settings, and adjusted estimates for at least maternal age. Two investigators independently assessed study quality and applicability using established methods. RESULTS: Seven cohort studies met inclusion criteria. There was limited but consistent evidence that short interpregnancy interval is associated with increased risk of precipitous labour and decreased risks of labour dystocia. There was some evidence that short interpregnancy interval is associated with increased risks of subsequent pre-pregnancy obesity and gestational diabetes, and decreased risk of preeclampsia. Among women with a previous caesarean delivery, short interpregnancy interval was associated with increased risk of uterine rupture in one study. No studies reported outcomes related to maternal depression, interpregnancy weight gain, maternal anaemia, or maternal mortality. CONCLUSIONS: In studies from high-resource settings, short interpregnancy intervals are associated with both increased and decreased risks of adverse maternal outcomes. However, most outcomes were evaluated in single studies, and the strength of evidence supporting associations is low.

Good practices for the design, analysis, and interpretation of observational studies on birth spacing and perinatal health outcomes.

BACKGROUND: Meta-analyses of observational studies have shown that women with a shorter interpregnancy interval (the time from delivery to start of a subsequent pregnancy) are more likely to experience adverse pregnancy outcomes, such as preterm delivery or small for gestational age birth, than women who space their births further apart. However, the studies used to inform these estimates have methodological shortcomings. METHODS: In this commentary, we summarise the discussions of an expert workgroup describing good practices for the design, analysis, and interpretation of observational studies of interpregnancy interval and adverse perinatal health outcomes. RESULTS: We argue that inferences drawn from research in this field will be improved by careful attention to elements such as: (a) refining the research question to clarify whether the goal is to estimate a causal effect vs describe patterns of association; (b) using directed acyclic graphs to represent potential causal networks and guide the analytic plan of studies seeking to estimate causal effects; (c) assessing how miscarriages and pregnancy terminations may have influenced interpregnancy interval classifications; (d) specifying how key factors such as previous pregnancy loss, pregnancy intention, and maternal socio-economic position will be considered; and (e) examining if the association between interpregnancy interval and perinatal outcome differs by factors such as maternal age. CONCLUSION: This commentary outlines the discussions of this recent expert workgroup, and describes several suggested principles for study design and analysis that could mitigate many potential sources of bias.

Screening for Urinary Incontinence in Women: A Systematic Review for the Women's Preventive Services Initiative.

Background: Urinary incontinence is infrequently addressed during routine health care despite its high prevalence and adverse effects on health. Purpose: To evaluate whether screening for urinary incontinence in women not previously diagnosed improves outcomes (symptoms, quality of life, and function) and to evaluate the accuracy of screening methods and potential harms of screening. Data Sources: English-language searches of Ovid MEDLINE, Cochrane Central Register of Controlled Trials, and Cochrane Database of Systematic Reviews (1 January 1996 to 30 March 2018); ClinicalTrials.gov (April 2018); and reference lists of studies and reviews. Study Selection: Randomized trials, cohort studies, systematic reviews of studies that enrolled nonpregnant women without previously diagnosed urinary incontinence and compared clinical outcomes and adverse effects between women who were and were not screened, and diagnostic accuracy studies that reported performance measures of screening tests. Data Extraction: Dual extraction and quality assessment of individual studies. Data Synthesis: No studies evaluated the overall effectiveness or harms of screening. Seventeen studies evaluated the diagnostic accuracy of 18 screening questionnaires against a clinical diagnosis or results of diagnostic tests. Of these, 14 poor-quality studies were based in referral clinics, enrolled only symptomatic women, or had other limitations. One good-quality and 2 fair-quality studies (evaluating 4 methods) enrolled women not recruited on the basis of symptoms. Areas under the receiver-operating characteristic curve for stress, urge, and any type of incontinence in these studies were 0.79, 0.88, and 0.88 for the Michigan Incontinence Symptom Index; 0.85, 0.83, and 0.87 for the Bladder Control Self-Assessment Questionnaire; and 0.68, 0.82, and 0.75 for the Overactive Bladder Awareness Tool. The Incontinence Screening Questionnaire had a sensitivity of 66% and specificity of 80% for any type of incontinence. Limitation: Studies enrolled few participants, often from symptomatic referral populations; used various reference standards; and infrequently reported CIs. Conclusion: Evidence is insufficient on the overall effectiveness and harms of screening for urinary incontinence in women. Limited evidence in general populations suggests fairly high accuracy for some screening methods. Primary Funding Source: Health Resources and Services Administration.

Screening for Urinary Incontinence in Women: A Recommendation From the Women's Preventive Services Initiative.

Description: Recommendation on screening for urinary incontinence in women by the Women's Preventive Services Initiative (WPSI), a national coalition of women's health professional organizations and patient representatives. The WPSI's recommendations are intended to guide clinical practice and coverage of services for the Health Resources and Services Administration and other stakeholders. The target audience for this recommendation includes all clinicians providing preventive health care for women, particularly in primary care settings. This recommendation applies to women of all ages, as well as adolescents. Methods: The WPSI developed this recommendation after evaluating evidence regarding the benefits and harms of screening for urinary incontinence in women. The evaluation included a systematic review of the accuracy of screening instruments and the benefits and harms of treatments. Indirect evidence was used to link screening and health outcomes in the chain of evidence that might support screening in the absence of direct evidence. The WPSI also considered the effect of screening on symptom progression and avoidance of costly and complex treatments, as well as implementation factors. Recommendation: The WPSI recommends screening women for urinary incontinence annually. Screening ideally should assess whether women experience urinary incontinence and whether it affects their activities and quality of life. The WPSI recommends referring women for further evaluation and treatment if indicated.

Second opinion strategies in breast pathology: a decision analysis addressing over-treatment, under-treatment, and care costs.

PURPOSE: To estimate the potential near-term population impact of alternative second opinion breast biopsy pathology interpretation strategies. METHODS: Decision analysis examining 12-month outcomes of breast biopsy for nine breast pathology interpretation strategies in the U.S. health system. Diagnoses of 115 practicing pathologists in the Breast Pathology Study were compared to reference-standard-consensus diagnoses with and without second opinions. Interpretation strategies were defined by whether a second opinion was sought universally or selectively (e.g., 2nd opinion if invasive). Main outcomes were the expected proportion of concordant breast biopsy diagnoses, the proportion involving over- or under-interpretation, and cost of care in U.S. dollars within one-year of biopsy. RESULTS: Without a second opinion, 92.2% of biopsies received a concordant diagnosis. Concordance rates increased under all second opinion strategies, and the rate was highest (95.1%) and under-treatment lowest (2.6%) when all biopsies had second opinions. However, over-treatment was lowest when second opinions were sought selectively for initial diagnoses of invasive cancer, DCIS, or atypia (1.8 vs. 4.7% with no 2nd opinions). This strategy also had the lowest projected 12-month care costs ($5.907 billion vs. $6.049 billion with no 2nd opinions). CONCLUSIONS: Second opinion strategies could lower overall care costs while reducing both over- and under-treatment. The most accurate cost-saving strategy required second opinions for initial diagnoses of invasive cancer, DCIS, or atypia.

Suicide Risk Assessment and Prevention: A Systematic Review Focusing on Veterans.

OBJECTIVE: Suicide rates in veteran and military populations in the United States are high. This article reviews studies of the accuracy of methods to identify individuals at increased risk of suicide and the effectiveness and adverse effects of health care interventions relevant to U.S. veteran and military populations in reducing suicide and suicide attempts. METHODS: Trials, observational studies, and systematic reviews relevant to U.S. veterans and military personnel were identified in searches of MEDLINE, PsycINFO, SocINDEX, and Cochrane databases (January 1, 2008, to September 11, 2015), on Web sites, and in reference lists. Investigators extracted and confirmed data and dual-rated risk of bias for included studies. RESULTS: Nineteen studies evaluated accuracy of risk assessment methods, including models using retrospective electronic records data and clinician- or patient-rated instruments. Most methods demonstrated sensitivity ≥80% or area-under-the-curve values ≥.70 in single studies, including two studies based on electronic records of veterans and military personnel, but specificity varied. Suicide rates were reduced in six of eight observational studies of population-level interventions. Only two of ten trials of individual-level psychotherapy reported statistically significant differences between treatment and usual care. CONCLUSIONS: Risk assessment methods have been shown to be sensitive predictors of suicide and suicide attempts, but the frequency of false positives limits their clinical utility. Research to refine these methods and examine clinical applications is needed. Studies of suicide prevention interventions are inconclusive; trials of population-level interventions and promising therapies are required to support their clinical use.

How concerns and experiences with medical malpractice affect dermatopathologists' perceptions of their diagnostic practices when interpreting cutaneous melanocytic lesions.

OBJECTIVE: We sought to identify characteristics associated with past malpractice lawsuits and how malpractice concerns may affect interpretive practices. METHODS: We surveyed 207 of 301 (68.8%) eligible dermatopathologists who interpret melanocytic skin lesions in 10 states. The survey assessed dermatopathologists' demographic and clinical practice characteristics, perceptions of how medical malpractice concerns could influence their interpretive practices, and past malpractice lawsuits. RESULTS: Of dermatopathologists, 33% reported past malpractice experiences. Factors associated with being sued included older age (57 vs 48 years, P < .001), lack of board certification or fellowship training in dermatopathology (76.5% vs 53.2%, P = .001), and greater number of years interpreting melanocytic lesions (>20 years: 52.9% vs 20.1%, P < .001). Of participants, 64% reported being moderately or extremely confident in their melanocytic interpretations. Although most dermatopathologists believed that malpractice concerns increased their likelihood of ordering specialized pathology tests, obtaining recuts, and seeking a second opinion, none of these practices were associated with past malpractice. Most dermatopathologists reported concerns about potential harms to patients that may result from their assessments of melanocytic lesions. LIMITATIONS: Limitations of this study include lack of validation of and details about the malpractice suits experienced by participating dermatopathologists. In addition, the study assessed perceptions of practice rather than actual practices that might be associated with malpractice incidents. CONCLUSIONS: Most dermatopathologists reported apprehension about how malpractice affects their clinical practice and are concerned about patient safety irrespective of whether they had actually experienced a medical malpractice suit.

Mammography Screening in a Large Health System Following the U.S. Preventive Services Task Force Recommendations and the Affordable Care Act.

BACKGROUND: Practice recommendations for mammography screening were issued by the U.S. Preventive Services Task Force in 2009 and expansion of insurance coverage was provided under the Patient Protection and Affordable Care Act soon thereafter, yet the influence of these changes on screening practices in the United States is not known. METHODS: To determine changes in mammography screening and their associations with new practice recommendations and the Affordable Care Act, we examined patient-level data from 249,803 screening mammograms from January 1, 2008 through December 31, 2012 in a large community-based health system in the northwestern United States. Associations were determined by an intervention analysis of time-series data method. RESULTS: Among women screened, 64% were age 50-74 years; 84% self-identified as white race; 62% had commercial insurance; and 70% were seen in facilities located in metropolitan areas. Practice recommendations were associated with decreased screening volumes among women age <40 (-37.4 mammograms/month; -39.4% change; P<0.001), 40-49 (-106.0 mammograms/month; -11.2% change; P<0.001), and ≥75 (-54.7 mammograms/month; -10.0% change; P<0.001), but not women age 50-74. Implementation of the Affordable Care Act was associated with increased screening among women age 50-74 (+184.3 mammograms/month; +7.2% change; P=0.001), but not women <40 or ≥75; increases for age 40-49 were of borderline statistical significance (+56.9 mammograms/month; +6% change; P=0.06). Practice recommendations were also associated with decreased screening for women with commercial insurance, while the Affordable Care Act was associated with increased screening for women with Medicare, Medicaid, or other noncommercial sources of payment. CONCLUSIONS: Mammography screening volumes in a large community health system decreased among women age <50 and ≥75 in association with new U.S. Preventive Services Task Force practice recommendations, while insurance coverage changes under the Affordable Care Act were associated with increased screening volumes among women age 50-74.

Second opinion in breast pathology: policy, practice and perception.

AIMS: To assess the laboratory policies, pathologists' clinical practice and perceptions about the value of second opinions for breast pathology cases among pathologists practising in the USA. METHODS: Cross-sectional data were collected from 252 pathologists who interpret breast specimens in eight states using a web-based survey. Descriptive statistics were used to characterise findings. RESULTS: Most participants had >10 years of experience interpreting breast specimens (64%), were not affiliated with academic centres (73%) and were not considered experts by their peers (79%). Laboratory policies mandating second opinions varied by diagnosis: invasive cancer 65%; ductal carcinoma in situ (DCIS) 56%; atypical ductal hyperplasia 36% and other benign cases 33%. 81% obtained second opinions in the absence of policies. Participants believed they improve diagnostic accuracy (96%) and protect from malpractice suits (83%), and were easy to obtain, did not take too much time and did not make them look less adequate. The most common (60%) approach to resolving differences between the first and second opinion is to ask for a third opinion, followed by reaching a consensus. CONCLUSIONS: Laboratory-based second opinion policies vary for breast pathology but are most common for invasive cancer and DCIS cases. Pathologists have favourable attitudes towards second opinions, adhere to policies and obtain them even when policies are absent. Those without a formal policy may benefit from supportive clinical practices and systems that help obtain second opinions.

Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation.

BACKGROUND: Mutations in breast cancer susceptibility genes (BRCA1 and BRCA2) are associated with increased risks for breast, ovarian, and other types of cancer. PURPOSE: To review new evidence on the benefits and harms of risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women. DATA SOURCES: MEDLINE and PsycINFO between 2004 and 30 July 2013, the Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews from 2004 through the second quarter of 2013, Health Technology Assessment during the fourth quarter of 2012, Scopus, and reference lists. STUDY SELECTION: English-language studies about accuracy of risk assessment and benefits and harms of genetic counseling, genetic testing, and interventions to reduce cancer incidence and mortality. DATA EXTRACTION: Individual investigators extracted data on participants, study design, analysis, follow-up, and results, and a second investigator confirmed key data. Investigators independently dual-rated study quality and applicability by using established criteria. DATA SYNTHESIS: Five referral models accurately estimated individual risk for BRCA mutations. Genetic counseling increased the accuracy of risk perception and decreases the intention for genetic testing among unlikely carriers and cancer-related worry, anxiety, and depression. No trials evaluated the effectiveness of intensive screening or risk-reducing medications in mutation carriers, although false-positive rates, unneeded imaging, and unneeded surgeries were higher with screening. Among high-risk women and mutation carriers, risk-reducing mastectomy decreased breast cancer by 85% to 100% and breast cancer mortality by 81% to 100% compared with women without surgery; risk-reducing salpingo-oophorectomy decreased breast cancer incidence by 37% to 100%, ovarian cancer by 69% to 100%, and all-cause mortality by 55% to 100%. LIMITATION: The analysis included only English-language articles;efficacy trials in mutation carriers were lacking. CONCLUSION: Studies of risk assessment, genetic counseling, genetic testing, and interventions to reduce cancer and mortality indicate potential benefits and harms that vary according to risk.

Screening for breast cancer: an update for the U.S. Preventive Services Task Force.

BACKGROUND: This systematic review is an update of evidence since the 2002 U.S. Preventive Services Task Force recommendation on breast cancer screening. PURPOSE: To determine the effectiveness of mammography screening in decreasing breast cancer mortality among average-risk women aged 40 to 49 years and 70 years or older, the effectiveness of clinical breast examination and breast self-examination, and the harms of screening. DATA SOURCES: Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews (through the fourth quarter of 2008), MEDLINE (January 2001 to December 2008), reference lists, and Web of Science searches for published studies and Breast Cancer Surveillance Consortium for screening mammography data. STUDY SELECTION: Randomized, controlled trials with breast cancer mortality outcomes for screening effectiveness, and studies of various designs and multiple data sources for harms. DATA EXTRACTION: Relevant data were abstracted, and study quality was rated by using established criteria. DATA SYNTHESIS: Mammography screening reduces breast cancer mortality by 15% for women aged 39 to 49 years (relative risk, 0.85 [95% credible interval, 0.75 to 0.96]; 8 trials). Data are lacking for women aged 70 years or older. Radiation exposure from mammography is low. Patient adverse experiences are common and transient and do not affect screening practices. Estimates of overdiagnosis vary from 1% to 10%. Younger women have more false-positive mammography results and additional imaging but fewer biopsies than older women. Trials of clinical breast examination are ongoing; trials for breast self-examination showed no reductions in mortality but increases in benign biopsy results. LIMITATION: Studies of older women, digital mammography, and magnetic resonance imaging are lacking. CONCLUSION: Mammography screening reduces breast cancer mortality for women aged 39 to 69 years; data are insufficient for older women. False-positive mammography results and additional imaging are common. No benefit has been shown for clinical breast examination or breast self-examination.

Economic comparison of diagnostic approaches for evaluating osteoporosis in older women.

Of the technologies available, dual-energy X-ray absorptiometry of the hip or femoral neck (DXA-FN) is the best predictor of hip fractures. Diagnostic approaches utilizing measures of peripheral sites with office-based technology, such as calcaneal quantitative ultrasound (QUS), may reduce costs although clinical and economic outcomes have not been evaluated. The objective was to compare three approaches for diagnosing osteoporosis in older women. The design was a decision-analytic model using diagnostic measures and clinical and economic outcomes from the Study of Osteoporotic Fractures, a prospective cohort of older white women that measured BMD and QUS and assessed fracture outcomes. The setting and patients were a hypothetical cohort of older white women presenting for diagnosis of osteoporosis. For the diagnostic and treatment alternatives, three diagnostic approaches-DXA-FN alone, QUS alone and a sequential approach (first QUS, then DXA-FN for those with low values for QUS)-were compared to no diagnosis. The outcome measures were the number of women identified for treatment, number of hip fractures prevented following diagnosis and subsequent treatment, number of women needed to treat to prevent one hip fracture and total direct medical costs. The sequential approach identified fewer women to treat, prevented more hip fractures and incurred lower total costs than using DXA alone. Diagnosis with QUS alone identified more women to treat and incurred higher total costs than DXA alone under most conditions. Compared to other approaches for diagnosing osteoporosis, sequential use of QUS followed by DXA resulted in fewer women treated and lower total costs.

Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force.

BACKGROUND: Clinically significant mutations of BRCA1 and BRCA2 genes are associated with increased susceptibility for breast and ovarian cancer. Although these mutations are uncommon, public interest in testing for them is growing. PURPOSE: To determine benefits and harms of screening for inherited breast and ovarian cancer susceptibility in the general population of women without cancer presenting for primary health care in the United States. DATA SOURCES: MEDLINE (1966 to 1 October 2004), Cochrane Library databases, reference lists, reviews, Web sites, and experts. STUDY SELECTION: Eligibility was determined by inclusion criteria specific to key questions about risk assessment, genetic counseling, mutation testing, prevention interventions, and potential adverse effects. DATA EXTRACTION: After review of studies, data were extracted, entered into evidence tables, and summarized by using descriptive or statistical methods. Study quality was rated by using predefined criteria. DATA SYNTHESIS: Tools assessing risks for mutations and referral guidelines have been developed; their accuracy, effectiveness, and adverse effects in primary care settings are unknown. Risk assessment, genetic counseling, and mutation testing did not cause adverse psychological outcomes, and counseling improved distress and risk perception in the highly selected populations studied. Intensive cancer screening studies are inconclusive. Chemoprevention trials indicate risk reduction for breast cancer in women with varying levels of risk, as well as increased adverse effects. Observational studies of prophylactic surgeries report reduced risks for breast and ovarian cancer in mutation carriers. LIMITATIONS: No data describe the range of risk associated with BRCA mutations, genetic heterogeneity, and moderating factors; studies conducted in highly selected populations contain biases; and information on adverse effects is incomplete. CONCLUSIONS: A primary care approach to screening for inherited breast and ovarian cancer susceptibility has not been evaluated, and evidence is lacking to determine benefits and harms for the general population.