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1.
PLoS One ; 15(8): e0237790, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32810185

RESUMO

This study determined the frequency and factors associated with EGFR testing rates and erlotinib treatment as well as associated survival outcomes in patients with non small cell lung cancer in Kentucky. Data from the Kentucky Cancer Registry (KCR) linked with health claims from Medicaid, Medicare and private insurance groups were evaluated. EGFR testing and erlotinib prescribing were identified using ICD-9 procedure codes and national drug codes in claims, respectively. Logistic regression analysis was performed to determine factors associated with EGFR testing and erlotinib prescribing. Cox-regression analysis was performed to determine factors associated with survival. EGFR mutation testing rates rose from 0.1% to 10.6% over the evaluated period while erlotinib use ranged from 3.4% to 5.4%. Factors associated with no EGFR testing were older age, male gender, enrollment in Medicaid or Medicare, smoking, and geographic region. Factors associated with not receiving erlotinib included older age, male gender, enrollment in Medicare or Medicaid, and living in moderate to high poverty. Survival analysis demonstrated EGFR testing or erlotinib use was associated with a higher likelihood of survival. EGFR testing and erlotinib prescribing were slow to be implemented in our predominantly rural state. While population-level factors likely contributed, patient factors, including geographic location (areas with high poverty rates and rural regions) and insurance type, were associated with lack of use, highlighting rural disparities in the implementation of cancer precision medicine.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Cloridrato de Erlotinib/uso terapêutico , Testes Genéticos/estatística & dados numéricos , Neoplasias Pulmonares/tratamento farmacológico , Demandas Administrativas em Assistência à Saúde/estatística & dados numéricos , Adulto , Fatores Etários , Idoso , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/mortalidade , Análise Mutacional de DNA/economia , Análise Mutacional de DNA/estatística & dados numéricos , Prescrições de Medicamentos/economia , Prescrições de Medicamentos/estatística & dados numéricos , Uso de Medicamentos/economia , Uso de Medicamentos/estatística & dados numéricos , Receptores ErbB/antagonistas & inibidores , Receptores ErbB/genética , Feminino , Testes Genéticos/economia , Disparidades em Assistência à Saúde/economia , Humanos , Kentucky/epidemiologia , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/mortalidade , Masculino , Medicaid/economia , Medicaid/estatística & dados numéricos , Medicare/economia , Medicare/estatística & dados numéricos , Pessoa de Meia-Idade , Mutação , Pobreza/estatística & dados numéricos , Medicina de Precisão/economia , Medicina de Precisão/estatística & dados numéricos , Sistema de Registros/estatística & dados numéricos , Estudos Retrospectivos , Fatores Sexuais , Análise de Sobrevida , Estados Unidos , Adulto Jovem
2.
PLoS One ; 15(7): e0235038, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32609729

RESUMO

Lynch syndrome (LS) is an autosomal dominant condition caused by pathogenic variants in mismatch repair (MMR) genes that predispose individuals to different malignancies, such as colorectal cancer (CRC) and endometrial cancer. Current guidelines recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. Economic evaluations in support of such approach, however, are not available in Italy. We developed a decision-analytic model to analyze the cost-effectiveness of LS screening from the perspective of the Italian National Health System. Three testing strategies: the sequencing of all MMR genes without prior tumor analysis (Strategy 1), a sequential IHC and MS-MLPA analysis (Strategy 2), and an age-targeted strategy with a revised Bethesda criteria assessment before IHC and methylation-specific MLPA for patients ≥ than 70 years old (Strategy 3) were analyzed and compared to the "no testing" strategy. Quality Adjusted Life Years (QALYs) in relatives after colonoscopy, aspirin prophylaxis and an intensive gynecological surveillance were estimated through a Markov model. Assuming a CRC incidence rate of 0.09% and a share of patients affected by LS equal to 2.81%, the number of detected pathogenic variants among CRC cases ranges, in a given year, between 910 and 1167 depending on the testing strategy employed. The testing strategies investigated, provided one-time to the entire eligible population (CRC patients), were associated with an overall cost ranging between €1,753,059.93-€10,388,000.00. The incremental cost-effectiveness ratios of the Markov model ranged from €941.24 /QALY to €1,681.93 /QALY, thus supporting that "universal testing" versus "no testing" is cost-effective, but not necessarily in comparison with age-targeted strategies. This is the first economic evaluation on different testing strategies for LS in Italy. The results might support the introduction of cost-effective recommendations for LS screening in Italy.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais/diagnóstico , Testes Genéticos/economia , Neoplasias Colorretais/economia , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais Hereditárias sem Polipose/economia , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Análise Custo-Benefício , Reparo de Erro de Pareamento de DNA , Testes Genéticos/métodos , Humanos , Itália/epidemiologia , Proteína 1 Homóloga a MutL/genética , Linhagem , Probabilidade , Anos de Vida Ajustados por Qualidade de Vida
3.
Med Sci (Paris) ; 36(2): 153-159, 2020 Feb.
Artigo em Francês | MEDLINE | ID: mdl-32129752

RESUMO

The direct-to-consumer genetic testing (DTC-GT) market has been developing for about twenty years now, raising various debates, even controversies. But what about the regulation of these so-called "innovative" devices, but whose medical status is ambiguous? A first regulatory aspect is depending on the market itself, since the latter is currently subjected to a strong structuring process. A second regulatory aspect, more classical, is the legal one. While the DTC-GT status has long been unclear on European scale, a new text (a Regulation, not a Directive) is modifying the situation. It encourages regulation "by the market" rather than "by the medical profession", which does not imply that the latter will have no (indirect) impact on the DTC-GT market.


Assuntos
Triagem e Testes Direto ao Consumidor/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Setor de Assistência à Saúde/legislação & jurisprudência , Legislação Médica , Triagem e Testes Direto ao Consumidor/ética , Triagem e Testes Direto ao Consumidor/métodos , Triagem e Testes Direto ao Consumidor/normas , Europa (Continente) , União Europeia , Aconselhamento Genético , Testes Genéticos/economia , Testes Genéticos/ética , Testes Genéticos/métodos , Regulamentação Governamental , Política de Saúde/legislação & jurisprudência , Humanos , Legislação Farmacêutica , Marketing de Serviços de Saúde/legislação & jurisprudência
4.
BJOG ; 127(6): 710-718, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31930663

RESUMO

OBJECTIVE: What are the cost per live birth and the incremental cost of preventing a miscarriage with preimplantation genetic testing for aneuploidy (PGT-A) by polar body biopsy and array-based comprehensive genome hybridisation (aCGH) versus regular IVF/ICSI without PGT-A for infertility treatment in women 36-40 years of age? DESIGN: Decision tree model. POPULATION: A randomised clinical trial on PGT-A (ESTEEM study). METHODS: Two treatment strategies were compared: one cycle of IVF/ICSI with or without PGT-A. Costs and effects were analysed with this model for four different cost scenarios: high-, higher medium, lower medium and low-cost. Base case, sensitivity, threshold, and probabilistic sensitivity analyses were used to examine the cost-effectiveness implications of PGT-A. RESULTS: PGT-A increased the cost per live birth by approximately 15% in the high-cost scenario to approximately 285% in the low-cost scenario. Threshold analysis revealed that PGT-A would need to be associated with an absolute increase in pregnancy rate by 6% to >39% or, alternatively, would need to be US$2,969 (high-cost scenario) to US$4,888 (low-cost scenario) cheaper. The incremental cost to prevent one miscarriage by PGT-A using the base case assumptions was calculated to be US$34,427 (high-cost scenario) to US$51,146 (low-cost scenario). A probabilistic sensitivity analysis showed cost-effectiveness for PGT-A from 1.9% (high-cost scenario) to 0.0% (low-cost scenario) of calculated samples. CONCLUSIONS: While avoiding unnecessary embryo transfers and miscarriages are important goals, patients and doctors need to be aware of the high-cost implications of applying PGT-A using aCGH on polar bodies. TWEETABLE ABSTRACT: PGT-A by polar body biopsy and comprehensive genome hybridisation increases cost per live birth and requires high financial spending per miscarriage averted.


Assuntos
Aborto Espontâneo/genética , Aneuploidia , Testes Genéticos/economia , Idade Materna , Diagnóstico Pré-Implantação/economia , Aborto Espontâneo/prevenção & controle , Adulto , Análise Custo-Benefício , Feminino , Humanos , Corpos Polares/transplante , Gravidez
5.
Am J Clin Pathol ; 153(3): 328-332, 2020 02 08.
Artigo em Inglês | MEDLINE | ID: mdl-31665226

RESUMO

OBJECTIVES: To determine the impact of an electronic intervention designed to block duplicate constitutional genetic tests. METHODS: We constructed, implemented, and studied an electronic intervention that stopped duplicate genetic tests. The activation frequency, types of tests affected, and cost savings achieved with this intervention were determined. The frequency and justification of override requests were also studied. RESULTS: This intervention stopped 710 unnecessary duplicate genetic tests over a 3-year period and saved $98,596. The tests with the highest numbers of alerts were those used for screening presurgical or transplant patients and were commonly part of an order set or test panel. Most override requests were justified because of the lack of exclusion codes in the initial programming. CONCLUSIONS: Electronic interventions that stop duplicate genetic testing, if properly constructed, can reduce waste, save health care dollars, and facilitate patient care by directing the provider to a test that has already been performed.


Assuntos
Redução de Custos , Testes Genéticos/economia , Procedimentos Desnecessários/economia , Sistemas de Apoio a Decisões Clínicas , Humanos
6.
Med J Aust ; 212(2): 72-81, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31595523

RESUMO

OBJECTIVES: To evaluate the health impact and cost-effectiveness of systematic testing for Lynch syndrome (LS) in people with incident colorectal cancer (CRC) in Australia. DESIGN, SETTING, PARTICIPANTS: We investigated the impact of LS testing strategies in a micro-simulation model (Policy1-Lynch), explicitly modelling the cost of testing all patients diagnosed with incident CRC during 2017, with detailed modelling of outcomes for patients identified as LS carriers (probands) and their at-risk relatives throughout their lifetimes. For people with confirmed LS, we modelled ongoing colonoscopic surveillance. MAIN OUTCOME MEASURES: Cost-effectiveness of six universal tumour testing strategies (testing for DNA mismatch repair deficiencies) and of universal germline gene panel testing of patients with incident CRC; impact on cost-effectiveness of restricting testing by age at CRC diagnosis (all ages, under 50/60/70 years) and of colonoscopic surveillance interval (one, two years). RESULTS: The cost-effectiveness ratio of universal tumour testing strategies (annual colonoscopic surveillance, no testing age limit) compared with no testing ranged from $28 915 to $31 904/life-year saved (LYS) (indicative willingness-to-pay threshold: $30 000-$50 000/LYS). These strategies could avert 184-189 CRC deaths with an additional 30 597-31 084 colonoscopies over the lifetimes of 1000 patients with incident CRC with LS and 1420 confirmed LS carrier relatives (164-166 additional colonoscopies/death averted). The most cost-effective strategy was immunohistochemistry and BRAF V600E testing (incremental cost-effectiveness ratio [ICER], $28 915/LYS). Universal germline gene panel testing was not cost-effective compared with universal tumour testing strategies (ICER, $2.4 million/LYS). Immunohistochemistry and BRAF V600E testing was cost-effective at all age limits when paired with 2-yearly colonoscopic surveillance (ICER, $11 525-$32 153/LYS), and required 4778-15 860 additional colonoscopies to avert 46-181 CRC deaths (88-103 additional colonoscopies/death averted). CONCLUSIONS: Universal tumour testing strategies for guiding germline genetic testing of people with incident CRC for LS in Australia are likely to be cost-effective compared with no testing. Universal germline gene panel testing would not currently be cost-effective.


Assuntos
Colonoscopia/estatística & dados numéricos , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Análise Custo-Benefício/estatística & dados numéricos , Testes Genéticos/economia , Idoso , Austrália/epidemiologia , Colonoscopia/economia , Neoplasias Colorretais Hereditárias sem Polipose/economia , Neoplasias Colorretais Hereditárias sem Polipose/mortalidade , Feminino , Humanos , Imuno-Histoquímica/economia , Masculino , Pessoa de Meia-Idade
7.
PLoS One ; 14(12): e0225281, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31800591

RESUMO

OBJECTIVES: Down syndrome (DS) is the most frequently occurring fetal chromosomal abnormality and different prenatal screening strategies are used for determining risk of DS worldwide. New non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA in maternal blood can provide benefits due to its higher sensitivity and specificity in comparison to conventional screening tests. This study aimed to assess the cost-effectiveness of using population-level NIPT in fetal aneuploidy screening for DS. METHODS: We developed a microsimulation decision-analytic model to perform a probabilistic cost-effectiveness analysis (CEA) of prenatal screening and diagnostic strategies for DS. The model followed individual simulated pregnant women through the pregnancy pathway. The comparators were serum-only screening, contingent NIPT (i.e., NIPT as a second-tier screening test) and universal NIPT (i.e., NIPT as a first-tier screening test). To address uncertainty around the model parameters, the expected values of costs and quality-adjusted life-years (QALYs) in the base case and all scenario analyses were obtained through probabilistic analysis from a Monte Carlo simulation. RESULTS: Base case and scenario analyses were conducted by repeating the micro-simulation 1,000 times for a sample of 45,605 pregnant women per the population of British Columbia, Canada (N = 4.8 million). Preliminary results of the sequential CEAs showed that contingent NIPT was a dominant strategy compared to serum-only screening. Compared with contingent NIPT, universal NIPT at the current test price was not cost-effective with an incremental cost-effectiveness ratio over $100,000/QALY. Contingent NIPT also had the lowest cost per DS case detected among these three strategies. CONCLUSION: Including NIPT in existing prenatal screening for DS is shown to be beneficial over conventional testing. However, at current prices, implementation of NIPT as a second-tier screening test is more cost-effective than deploying it as a universal test.


Assuntos
Análise Custo-Benefício , Síndrome de Down/diagnóstico , Testes Genéticos/economia , Diagnóstico Pré-Natal/economia , Adulto , Simulação por Computador , Síndrome de Down/economia , Feminino , Testes Genéticos/métodos , Humanos , Método de Monte Carlo , Gravidez , Diagnóstico Pré-Natal/métodos , Anos de Vida Ajustados por Qualidade de Vida
8.
Int J Mol Sci ; 20(21)2019 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-31690017

RESUMO

In the prenatal period, the copy number aberrations of chromosomes 13, 18, 21, X and Y account for over 80% of the clinically significant chromosome abnormalities. Classical cytogenetic analysis is the gold standard in invasive prenatal diagnostics but the long test waiting time affects its clinical utility. Several molecular rapid tests have been developed and employed in clinical practice, however all have substantial drawbacks. The aim of the study was to design and evaluate an optimized tool for rapid molecular detection of fetal aneuploidies. We established a novel single-day method using a chip-based platform, the QuantStudio 3D Digital PCR system. In order to assess the clinical usefulness of our screening test, we analyzed 133 prenatal samples. The difference in distributions of euploid and aneuploid samples identified the ploidy of each of the target chromosomes with high precision. The distribution of the chromosome ratio for euploid and aneuploid samples showed a statistically significant result (p = 0.003 for trisomy 13, p = 0.001 for trisomies 18 and 21, Mann-Whitney U test). Our results suggest that this novel chip-based approach provides a tool for rapid, technically simple, cost-effective screening for common fetal aneuploidies.


Assuntos
Aneuploidia , Transtornos Cromossômicos/diagnóstico , Testes Genéticos/métodos , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Transtornos Cromossômicos/genética , Custos e Análise de Custo , Feminino , Testes Genéticos/economia , Testes Genéticos/normas , Humanos , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos/economia , Análise de Sequência com Séries de Oligonucleotídeos/normas , Reação em Cadeia da Polimerase/economia , Reação em Cadeia da Polimerase/métodos , Reação em Cadeia da Polimerase/normas , Gravidez , Diagnóstico Pré-Natal/economia , Diagnóstico Pré-Natal/normas , Sensibilidade e Especificidade
9.
Per Med ; 16(6): 439-448, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31692405

RESUMO

Aim: Olaparib monotherapy improves progression-free survival in patients with metastatic breast cancer and BRCA1/2 mutations. We evaluated the cost-effectiveness of BRCA1/2 mutation profiling to target olaparib use. Methods: A Markov cohort model was generated to compare the 5-year cost-effectiveness of BRCA1/2 mutation profiling to target olaparib use. Results: The incremental cost-effectiveness ratio of BRCA1/2 mutation profiling plus olaparib monotherapy was JPY14,677,259/quality-adjusted life year (QALY) (US$131,047/QALY), compared with standard chemotherapy alone. Conclusion: BRCA1/2 mutation profiling to target olaparib use is not a cost-effective strategy for metastatic breast cancer. The strategy provides minimal incremental benefit at a high incremental cost per QALY. Hence, further cost reductions in the cost of both BRCA1/2 mutation profiling and olaparib are required.


Assuntos
Análise Custo-Benefício/economia , Testes Genéticos/economia , Ftalazinas/economia , Piperazinas/economia , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Feminino , Humanos , Cadeias de Markov , Ftalazinas/uso terapêutico , Piperazinas/uso terapêutico , Anos de Vida Ajustados por Qualidade de Vida
12.
Public Health Genomics ; 22(3-4): 140-144, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31550728

RESUMO

The prospect of healthcare systems offering population-based preventive genomic testing to all adults is becoming feasible. Some single-payer or state-funded healthcare systems are already considering offering universal testing as part of routine care. In countries with public healthcare systems, there is a unique opportunity to provide such testing in the form of a national screening program, following existing national population health-screening frameworks. This paradigm, if achievable, could help deliver a degree of testing quality and equity-of-access that may not be possible in private-payer or direct-to-consumer models, to maximize prevention and health benefits. Here, we outline some of the major challenges ahead in considering this prospect and discuss the research that is helping shape the future direction in Australia and elsewhere.


Assuntos
Assistência à Saúde/economia , Testes Genéticos/economia , Genômica/economia , Sistema de Fonte Pagadora Única/economia , Adulto , Austrália , Análise Custo-Benefício , Assistência à Saúde/legislação & jurisprudência , Genômica/legislação & jurisprudência , Política de Saúde/economia , Política de Saúde/legislação & jurisprudência , Humanos , Sistema de Fonte Pagadora Única/legislação & jurisprudência
13.
J Manag Care Spec Pharm ; 25(10): 1096-1101, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31556822

RESUMO

Genetic testing technology is rapidly evolving with the growth of personalized medicine. While test evaluation typically relies on laboratory measures of performance, tests can be costly and analytically and ethically complex. A more fulsome consideration of value is warranted to inform adoption and appropriate use. Herein we describe a methodology for developing novel clinician- and patient-reported measures of clinical and personal utility, aiming to capture the informational value of genome diagnostic tests. Adhering to core measurement science principles and standards, our 4-step process includes (1) tool development through scoping reviews and stakeholder interviews and surveys; (2) tool validation through prospective cohort studies to establish construct validity, inter- and intra-rater reliability; (3) tool application using comparative effectiveness assessment to gauge the comparative value of different types of genetic tests; and (4) tool dissemination, leveraging existing partnerships with international stakeholders to spur additional validation studies, comparative effectiveness research, cost-effectiveness analysis, and evidence-informed policy. A scoping review of the clinical utility literature informed the development of a preliminary 25-item index. Qualitative interviews with 35 clinicians further informed the definition of our utility construct, item content, and item importance. Stakeholder surveys with 113 clinicians enabled further feedback on item content, importance, sensibility, response, and scoring options. An 18-item tool, the "Clinician-reported Genetic testing Utility InDEx" (C-GUIDE), is now undergoing validation, while development work on the patient-reported measure of utility is underway. A methodologically innovative approach to the development of stakeholder-informed and clinimetrically sound measures of value for personalized medicine tests will assist technology users and decision makers globally. DISCLOSURES: This work was supported by the Canadian Institutes of Health Research Operating Grant (#PJT-152880) and the PhRMA Foundation Challenge Award. Publication of the study methodology or findings generated therein was not contingent on the sponsor's approval or censorship of the manuscript. The authors have nothing to disclose. Results from this study were presented as a poster at the 40th Annual North American Meeting of the Society for Medical Decision Making; October 14, 2018; Montreal, QC; the Annual Meeting of the American Society of Human Genetics; October 18, 2018; San Diego, CA; and as an oral presentation at the Annual Meeting of the Canadian Association for Health Services and Policy Research; May 31, 2018; Montreal, QC.


Assuntos
Tomada de Decisão Clínica/métodos , Pesquisa Comparativa da Efetividade/métodos , Testes Genéticos/normas , Genoma Humano/genética , Medicina de Precisão/normas , Análise Custo-Benefício/métodos , Prática Clínica Baseada em Evidências/economia , Prática Clínica Baseada em Evidências/normas , Testes Genéticos/economia , Humanos , Medidas de Resultados Relatados pelo Paciente , Reprodutibilidade dos Testes , Participação dos Interessados , Seguro de Saúde Baseado em Valor/economia
14.
Mol Diagn Ther ; 23(6): 723-733, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31396882

RESUMO

Mutation screening is elemental for clinical diagnosis and in determining therapeutic strategies. Nucleic acid-based techniques are considered to be the most accurate tools in genetic diagnosis. One such technique is loop-mediated isothermal amplification (LAMP) assay, which has seen tremendous applications in recent years. The advantages of the assay lie in its rapidity, efficiency, sensitivity, and cost. It works in isothermal conditions and amplifies the target gene using DNA polymerases that have strand displacement activity. To date, the assay has been widely used in different fields of research, including pathogen detection, crop development, and disease diagnosis. However, despite the potential, its application in mutation screening has been minimal. This review highlights the LAMP assay and its variants that have been developed for screening single-nucleotide polymorphisms and gene translocations in cancer.


Assuntos
Técnicas de Diagnóstico Molecular/métodos , Mutação , Técnicas de Amplificação de Ácido Nucleico/métodos , Estudos de Associação Genética , Testes Genéticos/economia , Testes Genéticos/métodos , Humanos , Técnicas de Diagnóstico Molecular/economia , Técnicas de Amplificação de Ácido Nucleico/economia , Sensibilidade e Especificidade
15.
PLoS One ; 14(8): e0221419, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31469860

RESUMO

BACKGROUND: Lynch syndrome is a hereditary cancer syndrome caused by constitutional pathogenic variants in the DNA mismatch repair (MMR) system, leading to increased risk of colorectal, endometrial and other cancers. The study aimed to identify the incremental costs and consequences of strategies to identify Lynch syndrome in women with endometrial cancer. METHODS: A decision-analytic model was developed to evaluate the relative cost-effectiveness of reflex testing strategies for identifying Lynch syndrome in women with endometrial cancer taking the NHS perspective and a lifetime horizon. Model input parameters were sourced from various published sources. Consequences were measured using quality-adjusted life years (QALYs). A cost-effectiveness threshold of £20 000/QALY was used. RESULTS: Reflex testing for Lynch syndrome using MMR immunohistochemistry and MLH1 methylation testing was cost-effective versus no testing, costing £14 200 per QALY gained. There was uncertainty due to parameter imprecision, with an estimated 42% chance this strategy is not cost-effective compared with no testing. Age had a significant impact on cost-effectiveness, with testing not predicted to be cost-effective in patients aged 65 years and over. CONCLUSIONS: Testing for Lynch syndrome in younger women with endometrial cancer using MMR immunohistochemistry and MLH1 methylation testing may be cost-effective. Age cut-offs may be controversial and adversely affect implementation.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/economia , Análise Custo-Benefício , Reparo de Erro de Pareamento de DNA/genética , Neoplasias do Endométrio/economia , Adulto , Fatores Etários , Idoso , Neoplasias Colorretais Hereditárias sem Polipose/complicações , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias do Endométrio/complicações , Neoplasias do Endométrio/diagnóstico , Neoplasias do Endométrio/genética , Feminino , Testes Genéticos/economia , Humanos , Imuno-Histoquímica , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Anos de Vida Ajustados por Qualidade de Vida , Reflexo/genética , Reino Unido/epidemiologia
16.
PLoS One ; 14(7): e0220053, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31344071

RESUMO

OBJECTIVE: To compare costs and efficacy of reflex and recall prenatal DNA screening for trisomy 21, 18 and 13 (affected pregnancies). In both methods women have Combined test markers measured. With recall screening, women with a high Combined test risk are recalled for counselling and offered a DNA blood test or invasive diagnostic testing. With reflex screening, a DNA analysis is automatically performed on plasma collected when blood was collected for measurement of the Combined test markers. METHODS: Published data were used to estimate, for each method, using various unit costs and risk cut-offs, the cost per woman screened, cost per affected pregnancy diagnosed, and for a given number of women screened, numbers of affected pregnancies diagnosed, unaffected pregnancies with positive results, and women with unaffected pregnancies having invasive diagnostic testing. RESULTS: Cost per woman screened is lower with reflex v recall screening: £37 v £38, and £11,043 v £11,178 per affected pregnancy diagnosed (DNA £250, Combined test markers risk cut-off 1 in 150). Reflex screening results in similar numbers of affected pregnancies diagnosed, with 100-fold fewer false-positives and 20-fold fewer women with unaffected pregnancies having invasive diagnostic testing. CONCLUSIONS: Reflex DNA screening is less expensive, more cost-effective, and safer than recall screening.


Assuntos
Síndrome de Down/diagnóstico , Testes Genéticos , Diagnóstico Pré-Natal/economia , Diagnóstico Pré-Natal/métodos , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Adulto , Assistência ao Convalescente/economia , Assistência ao Convalescente/métodos , Biomarcadores/sangue , Análise Custo-Benefício , Síndrome de Down/economia , Síndrome de Down/epidemiologia , Síndrome de Down/genética , Dever de Recontatar , Reações Falso-Positivas , Feminino , Testes Genéticos/economia , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Humanos , Idade Materna , Testes para Triagem do Soro Materno/economia , Testes para Triagem do Soro Materno/métodos , Testes para Triagem do Soro Materno/estatística & dados numéricos , Gravidez , Primeiro Trimestre da Gravidez/sangue , Diagnóstico Pré-Natal/estatística & dados numéricos , Prevalência , Recusa de Participação/estatística & dados numéricos , Síndrome da Trissomia do Cromossomo 13/epidemiologia , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/economia , Síndrome da Trissomía do Cromossomo 18/epidemiologia , Síndrome da Trissomía do Cromossomo 18/genética
17.
Aust J Gen Pract ; 48(3): 96-99, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-31256467

RESUMO

BACKGROUND: Genetic testing offers great benefit for the diagnosis of genetic conditions and to identify and manage risk for conditions such as familial breast cancer. However, potential personal insurance implications exist for some patients who undergo genetic testing in Australia. Currently, insurance companies offering risk-rated products such as life insurance can use genetic test results to discriminate, which may adversely affect applicants' ability to secure a policy. Many comparable countries have banned or restricted life insurers' use of genetic results, while Australia still permits it. However, the industry proposes to introduce a moratorium limiting the use of genetic results for life insurance underwriting in mid-2019. OBJECTIVE: This paper explores the implications of genetic testing for risk-rated insurance for the general practice workforce in Australia. DISCUSSION: Advancements in technology and decreasing costs have resulted in rapid expansion in genetic/genomic testing, which is set to become part of mainstream healthcare. General practitioners (GPs) in Australia will have an increasingly significant part to play in the expanded use of this testing, and it is therefore important that GPs are aware of these issues.


Assuntos
Testes Genéticos/ética , Seguro de Vida/tendências , Austrália , Testes Genéticos/economia , Testes Genéticos/tendências , Humanos , Seleção Tendenciosa de Seguro , Seguro de Vida/economia , Revelação da Verdade/ética
18.
Gynecol Oncol ; 154(2): 383-387, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31239069

RESUMO

OBJECTIVE: To evaluate awareness and acceptability of population-based BRCA testing among an unselected population of women presenting for annual gynecologic health assessment, with secondary objective to determine if a racial disparity exists in acceptability and awareness of this screening strategy. METHODS: Women presenting for routine gynecologic care in an outpatient setting of a single academic institution were anonymously surveyed. Survey collected age, self-identified race and ethnicity, education level, personal and family history of breast and/or ovarian cancer (BOC), awareness and interest, and willingness to pay out of pocket for testing. Responses were compared with bivariate and multivariate analysis. RESULTS: Interest in testing was expressed in 150 of 301 (45.1%) of participants. Women with a family history of BOC were more likely to be interested in testing than those without (OR = 1.9 (1.0-3.6)). Interest in testing was associated willingness to pay (OR = 3.3 (1.7-6.4)). Higher education level was associated with awareness of testing (OR = 9.9 (2.0-49.7)). Interest in testing was similar between racial groups, but awareness and willingness to pay for testing were higher among White women. Multivariate analysis with adjustment for education level confirmed that Black and Hispanic women were less likely to have awareness of genetic testing compared to White women and non-Hispanic Women, respectively (OR = 0.11 (0.05-0.3); OR = 0.10 (0.01-0.8)). CONCLUSIONS: Interest in genetic testing among women in the general population is high. Despite interest, awareness of BRCA is poor among Black and Hispanic women even when adjusting for education level.


Assuntos
Predisposição Genética para Doença , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Adulto , Afro-Americanos/estatística & dados numéricos , Grupo com Ancestrais do Continente Europeu/estatística & dados numéricos , Genes BRCA1 , Genes BRCA2 , Testes Genéticos/economia , Hispano-Americanos/estatística & dados numéricos , Humanos , Programas de Rastreamento/economia , Pessoa de Meia-Idade
19.
Genet Med ; 21(12): 2815-2822, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31222143

RESUMO

PURPOSE: To assess the relative cost-effectiveness of cascade genetic testing in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) compared with periodical clinical surveillance. METHODS: A decision-analytic model, combining a decision tree and a Markov model, was used to determine the lifetime costs and quality-adjusted life years (QALYs) for the two strategies. Deterministic and probabilistic sensitivity analyses were undertaken to assess the robustness of findings and to explore decision uncertainty. RESULTS: The incremental cost per additional QALY of cascade genetic testing prior to periodical clinical surveillance of first-degree relatives compared with periodical clinical surveillance alone was estimated at approximately AUD $6100. At established thresholds of cost-effectiveness, there is a 90% probability that cascade genetic testing is cost-effective. Extensive sensitivity analyses, including the addition of second-degree relatives, did not alter the conclusions drawn from the main analysis. CONCLUSION: Using cascade genetic testing to guide clinical surveillance of asymptomatic relatives of patients with DCM is very likely to be cost-effective. As the DCM pathogenic variant detection rate rises and new evidence for personalized treatment of at-risk individuals becomes available, the cost-effectiveness of cascade testing will further increase.


Assuntos
Análise Custo-Benefício/métodos , Testes Genéticos/economia , Cardiomiopatia Dilatada/genética , Análise Custo-Benefício/economia , Humanos , Cadeias de Markov , Programas de Rastreamento/economia , Modelos Econômicos , Anos de Vida Ajustados por Qualidade de Vida
20.
Clin Genitourin Cancer ; 17(4): e733-e744, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31155478

RESUMO

BACKGROUND: Our group has developed a noninvasive blood-based microRNA (miRNA) test for improving diagnosis, disease monitoring, and relapse detection in malignant testicular germ-cell tumors (TGCTs). Performance analysis suggests the test is likely to have comparable sensitivity and specificity in detecting TGCT as computed tomography (CT), thus reducing the need for serial CT scans for follow-up monitoring, with associated reductions in cumulative radiation burden and second cancer risk. To facilitate clinical adoption, we undertook a cost analysis to identify the budget impact of replacing CT scans with miRNA testing within health care systems. METHODS: The TGCT aftercare pathway was mapped out using National Comprehensive Cancer Network guidelines. A Markov model was built to simulate the impact of the miRNA test on TGCT aftercare costs. Incidence, treatment probabilities, relapse rate, and death rate data were collected from published studies to populate the model. RESULTS: Applying our model to the US health care system, the miRNA test has the potential to save up to $69 million per year in aftercare expenses related to TGCT treatment, with exact savings depending on the adoption rate and test price. CONCLUSION: This analysis demonstrates the potential positive budget impact of adopting miRNA testing in place of CT scans in the clinical management of TGCTs.


Assuntos
Testes Genéticos/economia , MicroRNAs/genética , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Neoplasias Testiculares/diagnóstico , Tomografia Computadorizada por Raios X/economia , Biomarcadores Tumorais/genética , Custos e Análise de Custo , Seguimentos , Humanos , Masculino , Cadeias de Markov , Estadiamento de Neoplasias , Neoplasias Embrionárias de Células Germinativas/patologia , Prognóstico , Análise de Sobrevida , Neoplasias Testiculares/patologia
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