Sobrediagnóstico: "Un mal que daña a nuestros niños" / First do no harm: overdiagnosis in Pediatrics

Pueden cometerse muchos errores en el momento de hacer un diagnóstico: subdiagnosticar, hacer un diagnóstico equivocado y sobrediagnosticar. Mientras que el subdiagnóstico y el diagnóstico equivocado son errores obvios, cuando se sobrediagnostica se descubre una anomalía real, pero la detección no beneficia al paciente. El daño ocurre cuando se continúa evaluando al paciente y se lo trata innecesariamente por una afección que, de no haberse diagnosticado, nunca lo habría afectado. Son varios los fenómenos que apuntan a un posible sobrediagnóstico: que la demora u omisión de un diagnóstico no ocasione daños; que aumente la detección de una enfermedad, pero no haya cambios en los resultados, y que los estudios aleatorizados no muestren ningún beneficio con el diagnóstico.Hay quienes dirían que el saber siempre reporta beneficios, pero los efectos adversos del sobrediagnóstico están bien documentados. Tendremos que adquirir más conocimientos sobre el daño que puede generar el sobrediagnóstico y transmitirlos a nuestros colegas, y deberemos aprender a encontrar el equilibrio entre el posible beneficio de un diagnóstico y el riesgo del sobrediagnóstico.

Many errors can be made in diagnosis: underdiagnosis, misdiagnosis, and overdiagnosis. While underdiagnosis and misdiagnosis are clear errors, in overdiagnosis, a true abnormality is discovered, but detection does not benefit the patient. Harm occurs when patients are further evaluated and treated unnecessarily as a result of making a diagnosis that would never have affected the patient if the diagnosis had not been made. Several phenomena point to potential overdiagnosis: when delayed or missed diagnoses do not result in harm; when there is increased detection of a disease, but no change in the outcome; and when randomized trials show no benefit from the diagnosis. Some might say that there is always benefit in knowing, but the adverse effects of overdiagnosis are well documented. We will need to educate ourselves and our colleagues about the potential for harm from overdiagnosis, and learn how to balance the potential benefit of a diagnosis against the risk of overdiagnosis.

First do no harm: overdiagnosis in Pediatrics. / Sobrediagnóstico: "Un mal que daña a nuestros niños".

Many errors can be made in diagnosis: underdiagnosis, misdiagnosis, and overdiagnosis. While underdiagnosis and misdiagnosis are clear errors, in overdiagnosis, a true abnormality is discovered, but detection does not benefit the patient. Harm occurs when patients are further evaluated and treated unnecessarily as a result of making a diagnosis that would never have affected the patient if the diagnosis had not been made. Several phenomena point to potential overdiagnosis: when delayed or missed diagnoses do not result in harm; when there is increased detection of a disease, but no change in the outcome; and when randomized trials show no benefit from the diagnosis. Some might say that there is always benefit in knowing, but the adverse effects of overdiagnosis are well documented. We will need to educate ourselves and our colleagues about the potential for harm from overdiagnosis, and learn how to balance the potential benefit of a diagnosis against the risk of overdiagnosis.

Pueden cometerse muchos errores en el momento de hacer un diagnóstico: subdiagnosticar, hacer un diagnóstico equivocado y sobrediagnosticar. Mientras que el subdiagnóstico y el diagnóstico equivocado son errores obvios, cuando se sobrediagnostica se descubre una anomalía real, pero la detección no beneficia al paciente. El daño ocurre cuando se continúa evaluando al paciente y se lo trata innecesariamente por una afección que, de no haberse diagnosticado, nunca lo habría afectado. Son varios los fenómenos que apuntan a un posible sobrediagnóstico: que la demora u omisión de un diagnóstico no ocasione daños; que aumente la detección de una enfermedad, pero no haya cambios en los resultados, y que los estudios aleatorizados no muestren ningún beneficio con el diagnóstico.Hay quienes dirían que el saber siempre reporta beneficios, pero los efectos adversos del sobrediagnóstico están bien documentados. Tendremos que adquirir más conocimientos sobre el daño que puede generar el sobrediagnóstico y transmitirlos a nuestros colegas, y deberemos aprender a encontrar el equilibrio entre el posible beneficio de un diagnóstico y el riesgo del sobrediagnóstico.

Overdiagnosis: how our compulsion for diagnosis may be harming children.

Overdiagnosis occurs when a true abnormality is discovered, but detection of that abnormality does not benefit the patient. It should be distinguished from misdiagnosis, in which the diagnosis is inaccurate, and it is not synonymous with overtreatment or overuse, in which excess medication or procedures are provided to patients for both correct and incorrect diagnoses. Overdiagnosis for adult conditions has gained a great deal of recognition over the last few years, led by realizations that certain screening initiatives, such as those for breast and prostate cancer, may be harming the very people they were designed to protect. In the fall of 2014, the second international Preventing Overdiagnosis Conference will be held, and the British Medical Journal will produce an overdiagnosis-themed journal issue. However, overdiagnosis in children has been less well described. This special article seeks to raise awareness of the possibility of overdiagnosis in pediatrics, suggesting that overdiagnosis may affect commonly diagnosed conditions such as attention-deficit/hyperactivity disorder, bacteremia, food allergy, hyperbilirubinemia, obstructive sleep apnea, and urinary tract infection. Through these and other examples, we discuss why overdiagnosis occurs and how it may be harming children. Additionally, we consider research and education strategies, with the goal to better elucidate pediatric overdiagnosis and mitigate its influence.

Prevention of dental caries in children from birth through age 5 years: US Preventive Services Task Force recommendation statement.

DESCRIPTION: Update of the 2004 US Preventive Services Task Force (USPSTF) recommendation on prevention of dental caries in preschool-aged children. METHODS: The USPSTF reviewed the evidence on prevention of dental caries by primary care clinicians in children 5 years and younger, focusing on screening for caries, assessment of risk for future caries, and the effectiveness of various interventions that have possible benefits in preventing caries. POPULATION: This recommendation applies to children age 5 years and younger. RECOMMENDATION: The USPSTF recommends that primary care clinicians prescribe oral fluoride supplementation starting at age 6 months for children whose water supply is deficient in fluoride. (B recommendation) The USPSTF recommends that primary care clinicians apply fluoride varnish to the primary teeth of all infants and children starting at the age of primary tooth eruption. (B recommendation) The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of routine screening examinations for dental caries performed by primary care clinicians in children from birth to age 5 years. (I Statement).

Primary care behavioral interventions to reduce illicit drug and nonmedical pharmaceutical use in children and adolescents: U.S. Preventive Services Task Force recommendation statement.

DESCRIPTION: Update of the 2008 U.S. Preventive Services Task Force (USPSTF) recommendation on screening for illicit drug use. METHODS: The USPSTF reviewed the evidence on interventions to help adolescents who have never used drugs to remain abstinent and interventions to help adolescents who are using drugs but do not meet criteria for a substance use disorder to reduce or stop their use. POPULATION: This recommendation applies to children and adolescents younger than age 18 years who have not been diagnosed with a substance use disorder. RECOMMENDATION: The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of primary care-based behavioral interventions to prevent or reduce illicit drug or nonmedical pharmaceutical use in children and adolescents. (I statement).

Screening for cognitive impairment in older adults: U.S. Preventive Services Task Force recommendation statement.

DESCRIPTION: Update of the 2003 U.S. Preventive Services Task Force (USPSTF) recommendation on screening for dementia. METHODS: The USPSTF reviewed the evidence on the benefits, harms, and sensitivity and specificity of screening instruments for cognitive impairment in older adults and the benefits and harms of commonly used treatment and management options for older adults with mild cognitive impairment or early dementia and their caregivers. POPULATION: This recommendation applies to universal screening with formal screening instruments in community-dwelling adults in the general primary care population who are older than 65 years and have no signs or symptoms of cognitive impairment. RECOMMENDATION: The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for cognitive impairment. (I statement).

Vitamin, mineral, and multivitamin supplements for the primary prevention of cardiovascular disease and cancer: U.S. Preventive services Task Force recommendation statement.

DESCRIPTION: Update of the 2003 U.S. Preventive Services Task Force (USPSTF) recommendation on vitamin supplementation to prevent cardiovascular disease and cancer. METHODS: The USPSTF reviewed the evidence on the efficacy of multivitamin or mineral supplements in the general adult population for the prevention of cardiovascular disease and cancer. POPULATION: This recommendation applies to healthy adults without special nutritional needs (typically aged 50 years or older). It does not apply to children, women who are pregnant or may become pregnant, or persons who are chronically ill or hospitalized or have a known nutritional deficiency. RECOMMENDATION: The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of multivitamins for the prevention of cardiovascular disease or cancer. (I statement). The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of single- or paired-nutrient supplements (except ß-carotene and vitamin E) for the prevention of cardiovascular disease or cancer. (I statement). The USPSTF recommends against ß-carotene or vitamin E supplements for the prevention of cardiovascular disease or cancer. (D recommendation).

Screening for gestational diabetes mellitus: U.S. Preventive Services Task Force recommendation statement.

DESCRIPTION: Update of the 2008 U.S. Preventive Services Task Force (USPSTF) recommendation on screening for gestational diabetes mellitus (GDM). METHODS: The USPSTF reviewed the evidence on the accuracy of screening tests for GDM, the benefits and harms of screening before and after 24 weeks of gestation, and the benefits and harms of treatment in the mother and infant. POPULATION: This recommendation applies to pregnant women who have not been previously diagnosed with type 1 or 2 diabetes mellitus. RECOMMENDATION: The USPSTF recommends screening for GDM in asymptomatic pregnant women after 24 weeks of gestation. (B recommendation)The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for GDM in asymptomatic pregnant women before 24 weeks of gestation. (I statement).

Screening for lung cancer: U.S. Preventive Services Task Force recommendation statement.

DESCRIPTION: Update of the 2004 U.S. Preventive Services Task Force (USPSTF) recommendation on screening for lung cancer. METHODS: The USPSTF reviewed the evidence on the efficacy of low-dose computed tomography, chest radiography, and sputum cytologic evaluation for lung cancer screening in asymptomatic persons who are at average or high risk for lung cancer (current or former smokers) and the benefits and harms of these screening tests and of surgical resection of early-stage non-small cell lung cancer. The USPSTF also commissioned modeling studies to provide information about the optimum age at which to begin and end screening, the optimum screening interval, and the relative benefits and harms of different screening strategies. POPULATION: This recommendation applies to asymptomatic adults aged 55 to 80 years who have a 30 pack-year smoking history and currently smoke or have quit within the past 15 years. RECOMMENDATION: The USPSTF recommends annual screening for lung cancer with low-dose computed tomography in adults aged 55 to 80 years who have a 30 pack-year smoking history and currently smoke or have quit within the past 15 years. Screening should be discontinued once a person has not smoked for 15 years or develops a health problem that substantially limits life expectancy or the ability or willingness to have curative lung surgery. (B recommendation).

Screening for oral cancer: U.S. Preventive Services Task Force recommendation statement.

DESCRIPTION: Update of the 2004 U.S. Preventive Services Task Force (USPSTF) recommendation on screening for oral cancer. METHODS: The USPSTF reviewed the evidence on whether screening for oral cancer reduces morbidity or mortality and on the accuracy of the oral screening examination for identifying oral cancer or potentially malignant disorders that have a high likelihood of progression to oral cancer. POPULATION: This recommendation applies to asymptomatic adults aged 18 years or older who are seen by primary care providers. This recommendation focuses on screening of the oral cavity performed by primary care providers and not dental providers or otolaryngologists. RECOMMENDATION: The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for oral cancer in asymptomatic adults.

An intervention to improve transitions from NICU to ambulatory care: quasi-experimental study.

BACKGROUND: Infants born prematurely or with complex medical problems are surviving to discharge in growing numbers and often require significant monitoring and coordination of care in the ambulatory setting. Using Healthcare Failure Modes and Effects Analysis (HFMEA), we identified a large number of potentially serious error points in this transition of care. PURPOSE To test whether a multifaceted intervention that included a health coach to assist families and an enhanced personal health record to improve the quality of information available to parents and community professionals would decrease adverse events and improve family assessment of the transition. METHODS: Using a concurrent cohort design, infants in one geographic area (pod) of the intensive care nursery received the intervention; infants in two other pods received routine discharge care. Primary outcomes included deaths, sick visits, unplanned readmissions and missed appointments within 1 month of discharge. The family assessed the transition using a modified version of the Care Transitions Measure. RESULTS: 125 intervention infants (54% boys) and 104 control infants (48% boys) were enrolled over 18 months. The groups were similar in maternal education, insurance status, language spoken and number of adults in the home, birth weight and length of stay. At least one adverse outcome occurred in 63 (50.4%) intervention infants and 56 (53.8%) control infants (p=0.55). At 24­48 h post discharge, caregivers in the intervention group had significantly higher scores on the adapted care transitions measure (3.51 vs 3.27, p<0.0001); however, at 30 days, the difference was no longer significant (3.45 vs 3.40, p=0.27). CONCLUSIONS: A multicomponent discharge intervention designed to address specific problems identified using HFMEA did not reduce certain adverse outcomes in the post-discharge period. TRIAL REGISTRATION: NCT01088945.

Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

DESCRIPTION: Update of the 2005 U.S. Preventive Services Task Force (USPSTF) recommendation on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility. METHODS: The USPSTF reviewed the evidence on risk assessment,genetic counseling, and genetic testing for potentially harmful BRCA mutations in asymptomatic women with a family history of breast or ovarian cancer but no personal history of cancer or known potentially harmful BRCA mutations in the family. The USPSTF also reviewed interventions aimed at reducing the risk for BRCA-related cancer in women with potentially harmful BRCA mutations, including intensive cancer screening, medications, and risk-reducing surgery. POPULATION: This recommendation applies to asymptomatic women who have not been diagnosed with BRCA-related cancer. RECOMMENDATION: The USPSTF recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with 1 of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2). Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing. (B recommendation)The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes. (D recommendation).

Screening for glaucoma: U.S. Preventive Services Task Force Recommendation Statement.

DESCRIPTION: Update of the 2004 U.S. Preventive Services Task Force (USPSTF) recommendation on screening for glaucoma. METHODS: The USPSTF reviewed evidence on the benefits and harms of screening for glaucoma and of medical and surgical treatment of early glaucoma. Beneficial outcomes of interest included improved vision-related quality of life and reduced progression of early asymptomatic glaucoma to vision-related impairment. The USPSTF also considered evidence on the accuracy of glaucoma screening tests. POPULATION: This recommendation applies to adults who do not have vision symptoms and are seen in a primary care setting. RECOMMENDATION: The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for primary open-angle glaucoma in adults. (I statement)