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1.
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
2.
Gynecol Oncol ; 152(3): 459-464, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30876489

RESUMO

BACKGROUND: Women with high-grade serous ovarian cancer (HGSC) have a 20% chance of carrying a BRCA1 or 2 mutation. Not all undergo genetic testing, and there is a large legacy group of untested patients. Their female first-degree relatives (FDR) may not qualify for testing unless they have specific ethnicity, or personal/family cancer history. We conducted a cost-effectiveness analysis to evaluate risk-reducing strategies for these FDR who are ineligible for testing. METHODS: A Markov Monte Carlo simulation model estimated the costs and benefits of 3 strategies for female FDR of HGSC patients whose BRCA status is unknown: (1) no BRCA testing; (2) universal BRCA testing, followed by risk-reducing bilateral salpingo-oophorectomy (RRBSO) for mutation carriers; (3) universal RRBSO, without BRCA testing. Effectiveness was estimated in quality-adjusted life year (QALY) gains over a 50-year time horizon. Sensitivity analyses accounted for uncertainty around various parameters. RESULTS: Universal BRCA testing for female FDR of women with HGSC yielded a higher average QALY gain at acceptable cost compared to no BRCA testing, with an incremental cost-effectiveness ratio of $7888 per QALY. Universal BRCA testing was more effective and less costly than universal RRBSO (19.20 QALYs vs. 18.52 QALYs, and $10,135 vs. $14,231, respectively). Results were stable over wide ranges of plausible costs and estimates. Compliance with hormone replacement therapy had to exceed 79.3% for universal RRBSO to be the most effective strategy. CONCLUSION: BRCA mutation testing should be offered to all female first-degree relatives of women with high-grade serous ovarian cancer when BRCA mutation status is unknown.


Assuntos
Cistadenocarcinoma Seroso/genética , Testes Genéticos/economia , Testes Genéticos/métodos , Neoplasias Ovarianas/genética , Proteína BRCA1/genética , Proteína BRCA2/genética , Análise Custo-Benefício , Cistadenocarcinoma Seroso/economia , Cistadenocarcinoma Seroso/patologia , Saúde da Família , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Cadeias de Markov , Modelos Econômicos , Modelos Genéticos , Gradação de Tumores , Neoplasias Ovarianas/economia , Neoplasias Ovarianas/patologia , Estados Unidos
3.
J Am Assoc Nurse Pract ; 31(3): 152-155, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30839387

RESUMO

There are approximately 250 direct to consumer (DTC) genetic testing companies marketing different testing options such as genetic health risk, carrier status, ancestry, wellness, traits, noninvasive prenatal genetic testing, athleticism, and many others. As a result, choosing the most appropriate test may be daunting when compared with a focused genetic test ordered by a clinician. A wealth of information may be discovered and care must be taken by both consumers and clinicians when deciphering test results. This column highlights considerations when proceeding forward with a DTC genetic test.


Assuntos
Comportamento do Consumidor/economia , Publicidade Direta ao Consumidor/métodos , Testes Genéticos/métodos , Comportamento do Consumidor/estatística & dados numéricos , Publicidade Direta ao Consumidor/tendências , Testes Genéticos/economia , Testes Genéticos/tendências , Humanos , Corporações Profissionais/tendências
4.
Mol Genet Genomic Med ; 7(2): e00606, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30816028

RESUMO

Attention has been focused on the field of genetics and genomics in Iran in recent years and some efforts have been enforced and implemented. However, they are totally not adequate, considering the advances in medical genetics and genomics in the past two decades around the world. Overall, considering the lack of medical genetics residency programs in the Iranian health education system, big demand due to high consanguinity and intraethnic marriages, there is a lag in genetic services and necessity to an immediate response to fill this big gap in Iran. As clarified in the National constitution fundamental law and re-emphasized in the 6th National Development Plan, the Iranian government authority is in charge of providing the standard level of health including genetic services to all Iranian individuals who are in need.


Assuntos
Utilização de Instalações e Serviços , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/estatística & dados numéricos , Genética Médica/estatística & dados numéricos , Diagnóstico Pré-Natal/estatística & dados numéricos , Análise de Sequência de DNA/estatística & dados numéricos , Bases de Dados Genéticas , Doenças Genéticas Inatas/epidemiologia , Doenças Genéticas Inatas/genética , Testes Genéticos/economia , Testes Genéticos/legislação & jurisprudência , Genética Médica/economia , Genética Médica/legislação & jurisprudência , Genética Médica/organização & administração , Humanos , Irã (Geográfico) , Diagnóstico Pré-Natal/economia , Análise de Sequência de DNA/economia
5.
Gynecol Oncol ; 153(2): 297-303, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30890269

RESUMO

OBJECTIVE: Germline mutations occur in approximately 25% of patients with epithelial ovarian cancers while somatic BRCA mutations are estimated at 5-7%. The objectives of this study were to determine the rate of germline and somatic testing in women with ovarian cancer and to identify disparities in testing at a comprehensive cancer center (CCC) and a safety net hospital (SNH). METHODS: Patients treated for ovarian cancer from 2011 to 2016 were included. Clinicopathologic data were abstracted from the electronic medical records. Logistic regression modeling were performed to calculate odds ratios (OR) and corresponding 95% confidence intervals (95%CI). RESULTS: Out of 367 women, 55.3% completed germline testing; 27.0% received somatic testing. Women at the CCC were more likely to be tested for germline (60.4% vs 38.1%, p ≤ 0.001) and somatic (34.3% vs 2.4%, p ≤ 0.001) mutations than those at the SNH. Patients with Medicare (aOR = 0.51, 95%CI 0.28-0.94, p = 0.032) or Medicaid (aOR = 0.42, 95%CI 0.18-0.99, p = 0.048) were less likely to receive germline testing than those privately insured. Patients with Medicaid were less likely to receive somatic testing (aOR = 0.15, 95%CI 0.04-0.62, p = 0.009) than those privately insured. Women with disease recurrence had a higher likelihood of being tested for germline (OR = 3.64, 95%CI 1.94-6.83, P < 0.001) and somatic (OR = 7.89, 95%CI 3.41-18.23, p < 0.001) mutations. There was no difference in germline or somatic testing by race/ethnicity. CONCLUSIONS: Disparities in both germline and somatic testing exist. Understanding and overcoming barriers to testing may improve cancer-related mortality by allowing for more tailored treatments as well as for improved cascade testing.


Assuntos
Testes Genéticos/estatística & dados numéricos , Disparidades em Assistência à Saúde/estatística & dados numéricos , Recidiva Local de Neoplasia/diagnóstico , Neoplasias Ovarianas/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteína BRCA1/genética , Proteína BRCA2/genética , Feminino , Testes Genéticos/economia , Mutação em Linhagem Germinativa , Humanos , Medicaid/economia , Medicaid/estatística & dados numéricos , Medicare/economia , Pessoa de Meia-Idade , Mutação , Recidiva Local de Neoplasia/genética , Neoplasias Ovarianas/economia , Neoplasias Ovarianas/genética , Estudos Retrospectivos , Estados Unidos , Adulto Jovem
6.
Fertil Steril ; 111(6): 1169-1176, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30777289

RESUMO

OBJECTIVE: To evaluate the economical benefit of preimplantation genetic testing of aneuploidies (PGT-A) when applied in an extended culture and stringent elective single ET framework. DESIGN: Theoretical cost-effectiveness study. SETTING: Not applicable. PATIENTS/ANIMAL(S): None. INTERVENTION(S): Comparison of the cost-effectiveness between two IVF treatment strategies: serial transfer of all available blastocysts without genetic testing (first fresh transfer and subsequent frozen-thawed transfer); and systematic use of genetic testing (trophectoderm biopsy, freeze-all, and frozen-thawed transfers of euploid blastocysts). The costs considered for this analysis are based on regional public health system provider. MAIN OUTCOME MEASURE(S): Costs per live birth. RESULT(S): Cost-effectiveness profile of PGT-A improves with female age and number of available blastocysts. Sensitivity analyses varying the costs of ET, the costs of genetic analyses, the magnitude of the detrimental impact of PGT-A on live birth rate, and the crude live birth rates change to some extent the thresholds for effectiveness but generally confirm the notion that PGT-A can be economically advantageous in some specific subgroups. CONCLUSION(S): PGT-A can be cost-effective in specific clinical settings and population groups. Economic considerations deserve attention in the debate regarding the clinical utility of PGT-A.


Assuntos
Aneuploidia , Técnicas de Cultura Embrionária/economia , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/economia , Testes Genéticos/economia , Custos de Cuidados de Saúde , Infertilidade/economia , Infertilidade/terapia , Diagnóstico Pré-Implantação/economia , Técnicas de Reprodução Assistida/economia , Redução de Custos , Análise Custo-Benefício , Criopreservação/economia , Transferência Embrionária/economia , Fertilização In Vitro/economia , Doenças Genéticas Inatas/genética , Humanos , Infertilidade/diagnóstico , Infertilidade/fisiopatologia , Modelos Econômicos , Valor Preditivo dos Testes , Diagnóstico Pré-Implantação/métodos , Técnicas de Reprodução Assistida/efeitos adversos
7.
BJOG ; 126(6): 686-689, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30770625

RESUMO

BRCA1/BRCA2 genes were discovered in early 1990s and clinical testing for these has been available since the mid-1990s. National Institute of Health and Care Excellence (NICE) and other international guidelines recommend genetic-testing at a ~10% probability threshold of carrying a BRCA-mutation. A detailed three generation family-history (FH) of cancer is used within complex mathematical models (e.g. BOADICEA, BRCAPRO, Manchester-Scoring-System) or through standardized clinical-criteria to identify individuals who fulfil this probability threshold and can be offered genetic-testing. Identification of unaffected carriers is important given the high risk of cancer in these women and the effective options available for clinical management which can reduce cancer risk, improve outcomes and minimise burden of disease. This article is protected by copyright. All rights reserved.


Assuntos
Intervenção Médica Precoce/métodos , Genes BRCA1 , Genes BRCA2 , Testes Genéticos , Acesso aos Serviços de Saúde/normas , Síndrome Hereditária de Câncer de Mama e Ovário , Quimioprevenção/métodos , Anticoncepção/métodos , Análise Custo-Benefício , Feminino , Testes Genéticos/economia , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Genética Populacional/métodos , Síndrome Hereditária de Câncer de Mama e Ovário/etnologia , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Síndrome Hereditária de Câncer de Mama e Ovário/prevenção & controle , Humanos , Mutação , Determinação de Necessidades de Cuidados de Saúde , Mastectomia Profilática/métodos , Melhoria de Qualidade , Medição de Risco
8.
Gynecol Oncol ; 153(1): 87-91, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30704745

RESUMO

OBJECTIVE: Survival but not cure rates have improved for epithelial ovarian cancer (EOC), demonstrating the need for effective prevention. Targeted prevention in BRCA carriers by risk reducing surgery (RRS) prevents 80% of cases but incurs additional up-front costs, compensated for by the potential for long term savings from treatment avoidance. Does prevention represent value for money? In the absence of long-term data from prospective trials, determining the cost effectiveness of a prevention strategy requires economic modelling. METHODS: A patient level simulation was developed comparing outcomes between two groups, using Canadian data. Group 1: no mutation testing with treatment if EOC developed. Group 2: cascade testing (index patient BRCA tested and the first and second-degree relatives tested if index patient or first-degree relative respectively were positive) with RRS in carriers. End points were Incremental Cost-Effectiveness Ratio (ICER) and budget impact. RESULTS: 2786 women with EOC (1 year incidence) had 766 first and 207 second-degree female relatives. BRCA mutations were present in 390 index cases, 366 first and 49 second-degree relatives. With 100% RRS uptake, 59 EOC were prevented and testing dominated no testing (more effective and less costly; ICER -$8919). The total cost saving over 50 years was $2,904,486 (cost saving of $9,660,381 in treatment costs versus increased cost from cascade testing/RRS of $6,755,895). At a threshold of $100,000 per QALY, prevention was cost effective in all modelled scenarios. CONCLUSIONS: Targeted prevention in BRCA mutation carriers not only prevents EOC but is cost-effective compared to treating EOC if it develops.


Assuntos
Carcinoma Epitelial do Ovário/economia , Carcinoma Epitelial do Ovário/prevenção & controle , Mutação em Linhagem Germinativa , Modelos Econômicos , Canadá , Carcinoma Epitelial do Ovário/genética , Carcinoma Epitelial do Ovário/cirurgia , Simulação por Computador , Análise Custo-Benefício , Saúde da Família , Feminino , Genes BRCA1 , Genes BRCA2 , Testes Genéticos/economia , Testes Genéticos/métodos , Humanos , Pessoa de Meia-Idade
9.
BJOG ; 126(6): 784-794, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30767407

RESUMO

OBJECTIVE: To evaluate factors affecting unselected population-based BRCA testing in Ashkenazi Jews (AJ). DESIGN: Cohort-study set within recruitment to the GCaPPS trial (ISRCTN73338115). SETTING: North London AJ population. POPULATION OR SAMPLE: Ashkenazi Jews women/men >18 years, recruited through self-referral. METHODS: Ashkenazi Jews women/men underwent pre-test counselling for BRCA testing through recruitment clinics (clusters). Consenting individuals provided blood samples for BRCA testing. Data were collected on socio-demographic/family history/knowledge/psychological well-being along with benefits/risks/cultural influences (18-item questionnaire measuring 'attitude'). Four-item Likert-scales analysed initial 'interest' and 'intention-to-test' pre-counselling. Uni- and multivariable logistic regression models evaluated factors affecting uptake/interest/intention to undergo BRCA testing. Statistical inference was based on cluster robust standard errors and joint Wald tests for significance. Item-Response Theory and graded-response models modelled responses to 18-item questionnaire. MAIN OUTCOME MEASURES: Interest, intention, uptake, attitude towards BRCA testing. RESULTS: A total of 935 individuals (women = 67%/men = 33%; mean age = 53.8 (SD = 15.02) years) underwent pre-test genetic-counselling. During the pre-counselling, 96% expressed interest in and 60% indicated a clear intention to undergo BRCA testing. Subsequently, 88% opted for BRCA testing. BRCA-related knowledge (P = 0.013) and degree-level education (P = 0.01) were positively and negatively (respectively) associated with intention-to-test. Being married/cohabiting had four-fold higher odds for BRCA testing uptake (P = 0.009). Perceived benefits were associated with higher pre-counselling odds for interest in and intention to undergo BRCA testing. Reduced uncertainty/reassurance were the most important factors contributing to decision-making. Increased importance/concern towards risks/limitations (confidentiality/insurance/emotional impact/inability to prevent cancer/marriage ability/ethnic focus/stigmatisation) were significantly associated with lower odds of uptake of BRCA testing, and discriminated between acceptors and decliners. Male gender/degree-level education (P = 0.001) had weaker correlations, whereas having children showed stronger (P = 0.005) associations with attitudes towards BRCA testing. CONCLUSIONS: BRCA testing in the AJ population has high acceptability. Pre-test counselling increases awareness of disadvantages/limitations of BRCA testing, influencing final cost-benefit perception and decision-making on undergoing testing. TWEETABLE ABSTRACT: BRCA testing in Ashkenazi Jews has high acceptability and uptake. Pre-test counselling facilitates informed decision-making.


Assuntos
Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Testes Genéticos , Síndrome Hereditária de Câncer de Mama e Ovário , Judeus , Adulto , Atitude Frente a Saúde/etnologia , Características Culturais , Feminino , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/psicologia , Testes Genéticos/economia , Testes Genéticos/estatística & dados numéricos , Síndrome Hereditária de Câncer de Mama e Ovário/etnologia , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Síndrome Hereditária de Câncer de Mama e Ovário/psicologia , Humanos , Judeus/genética , Judeus/psicologia , Londres , Masculino , Mutação , Participação do Paciente/estatística & dados numéricos , Fatores Socioeconômicos
10.
Mol Genet Genomic Med ; 7(4): e00572, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30712332

RESUMO

BACKGROUND: Just as there is inconsistency with respect to coverage of genomic testing with insurance carriers, there is interprovincial discrepancy in Canada. Consequently, the option of private pay (e.g., self pay) arises, which can lead to inequities in access, particularly when patients may not be aware of this option. There are currently no published data regarding how the Canadian genetics community handles discussions of private pay options with patients. The purpose of this study was to assess the attitudes of genetic healthcare professionals (GHPs: medical geneticists, genetic counselors, and genetic nurses) practicing in Canada toward these discussions. METHODS: An online survey was distributed to members of the Canadian College of Medical Geneticists and the Canadian Association of Genetic Counsellors to assess frequencies, rationale, and ethical considerations regarding these conversations. Quantitative data were analyzed using descriptive statistics. RESULTS: Of 144 respondents, 95% reported discussing private pay and 65% reported working in a clinic without a policy on this issue. There were geographic and practice-specific differences. The most common circumstance for these discussions was when a test was clinically indicated (e.g., but funding was denied) followed by when the patient initiated the conversation. The most frequently discussed tests included: multi-gene panels (73% of respondents), noninvasive prenatal testing (62%), and pre-implantation genetic diagnosis (58%). Although 65% felt it was ethical to discuss private pay, 35% indicated it was "sometimes" ethical. CONCLUSION: With the increasing availability of genomic technologies, these findings inform how we practice and demonstrate the need for policy in this area.


Assuntos
Atitude , Testes Genéticos/economia , Gastos em Saúde , Pessoal de Saúde/psicologia , Canadá , Feminino , Instituições Privadas de Saúde/economia , Humanos , Masculino , Inquéritos e Questionários
11.
Mol Genet Genomic Med ; 7(4): e00575, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30793526

RESUMO

BACKGROUND: Detailed analysis of imprinting center (IC) defects in individuals with Prader-Willi syndrome (PWS) is not readily available beyond chromosomal microarray (MA) analysis, and such testing is important for a more accurate diagnosis and recurrence risks. This is the first feasibility study of newly developed droplet digital polymerase chain reaction (ddPCR) examining DNA copy number differences in the PWS IC region of those with IC defects. METHODS: The study cohort included 17 individuals without 15q11-q13 deletions or maternal disomy but with IC defects as determined by genotype analysis showing biparental inheritance. Seven sets of parents and two healthy, unrelated controls were also analyzed. RESULTS: Copy number differences were distinguished by comparing the number of positive droplets detected by IC probes to those from a chromosome 15 reference probe, GABRß3. The ddPCR findings were compared to results from other methods including MA, and whole-exome sequencing (WES) with 100% concordance. The study also estimated the frequency of IC microdeletions and identified gene variants by WES that may impact phenotypes including CPT2 and NTRK1 genes. CONCLUSION: Droplet digital polymerase chain reaction is a cost-effective method that can be used to confirm the presence of microdeletions in PWS with impact on genetic counseling and recurrence risks for families.


Assuntos
Testes Genéticos/métodos , Impressão Genômica , Síndrome de Prader-Willi/genética , Sequenciamento Completo do Exoma/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Cromossomos Humanos Par 15/genética , Feminino , Deleção de Genes , Testes Genéticos/economia , Testes Genéticos/normas , Humanos , Masculino , Síndrome de Prader-Willi/diagnóstico , Sequenciamento Completo do Exoma/economia , Sequenciamento Completo do Exoma/normas
12.
Artigo em Inglês | MEDLINE | ID: mdl-30743159

RESUMO

OBJECTIVE(S): The aim of this study was to compare the patient characteristics, type of genetic disease and inheritance, volume of activity, practice patterns and pregnancy outcomes, in private versus publically funded IVF pre-implantation genetic testing (PGT) for translocation (IVF-PGT-SR) and aneuploidy (PGT-A) periods. STUDY DESIGN: This study retrospectively analyzed data during both privately funded period (PRP) and publically funded period (PUP) of assisted reproductive technology (ART) for a total of 275 patients. 83 patients underwent IVF-PGT-SR and 192 patients underwent IVF-PGT-A. Given that PGT-SR is a chromosomal abnormality hereditary in nature, whereas PGT-A is sporadic in addition to the contrasting funding policies, the two cohorts were analyzed separately. To achieve the proposed objective, the two groups under analysis were grouped in accordance with their respective coverage systems for infertility. RESULTS: Among translocation patients, 94 normal/balanced embryos were obtained from 47 IVF-PGT cycles in PRP whereas 145 embryos were obtained from 92 IVF-PGT cycles in PUP. The average number of embryos transferred per embryo transfer cycle was significantly lower in PUP in comparison to PRP (1.13 vs. 1.74, p < 0.0001). 13 singletons and 2 sets of twins were conceived in PRP. 14 singletons were conceived in PUP. Regardless of funding period, there were more reciprocal translocation carriers (79.4% in PRP and 76.4% in PUP) and more male carriers (82.4% in PRP and 60% in PUP), of which the majority had abnormal sperm parameters. Among aneuploidy patients, on average 2.5 embryos in PRP and 1.4 embryos in PUP were transferred per ET cycle (p = 0.05). There was a 13.3% increase in number of IVF-PGT-A attempts per patient in PRP compared to PUP. Live birth rate per IVF-PGT-A was higher in PRP (29.7% vs. 15%, P = 0.02), which consisted of 48 singletons and 18 multiparous pregnancies in PRP and 9 singletons in PUP. CONCLUSION(S): Public coverage of ART is associated with a greater utilization ART, as well as a reduced number in embryo transfer (ET) per cycle, a lower proportion of cycles resulting in successful pregnancy and a lower multiple birth rate. Our study ultimately shines light on the effect of providers' and patients' monetary conscious on pregnancy outcome.


Assuntos
Fertilização In Vitro/economia , Organização do Financiamento/estatística & dados numéricos , Testes Genéticos/economia , Resultado da Gravidez/economia , Diagnóstico Pré-Implantação/economia , Adulto , Transferência Embrionária/estatística & dados numéricos , Feminino , Organização do Financiamento/métodos , Humanos , Gravidez , Técnicas de Reprodução Assistida/estatística & dados numéricos , Estudos Retrospectivos , Resultado do Tratamento
13.
PLoS One ; 14(1): e0210010, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30645616

RESUMO

BACKGROUND: The health economic evidence about the value and optimal targeting of genetic testing in the prevention of coronary heart disease (CHD) events has remained limited and ambiguous. The objective of this study is to optimize the population-level use and targeting of genetic testing alongside traditional risk factors in the prevention of CHD events and, thereby, to assess the cost-benefit of genetic testing. METHODS AND FINDINGS: We compare several strategies for using traditional and genetic testing in the prevention of CHD through statin therapy. The targeting of tests to different patient segments within these strategies is optimized by using a decision-analytic model, in which a patient's estimated risk of CHD is updated based on test results using Bayesian methods. We adopt the perspective of healthcare sector. The data for the model is exceptionally wide and combined from national healthcare registers, the Finnish Institute for Molecular Medicine, and published literature. Our results suggest that targeting genetic testing in an optimal way to those patients about which traditional risk factors do not provide sufficiently accurate information results in the highest expected net benefit. In particular, compared to the use of traditional risk factors only, the optimal use of genetic testing would decrease the expected costs of an average patient aged 45 years or more by 2.54€ in a 10-year follow-up period while maintaining the level of the expected health outcome. Thus, genetic testing is found to be a part of a cost-beneficial testing strategy alongside traditional risk factors. This conclusion is robust to reasonable changes in model inputs. CONCLUSIONS: If targeted optimally, the use of genetic testing alongside traditional risk factors is cost-beneficial in the prevention of CHD.


Assuntos
Doença das Coronárias/genética , Doença das Coronárias/prevenção & controle , Testes Genéticos/métodos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Teorema de Bayes , Doença das Coronárias/tratamento farmacológico , Análise Custo-Benefício , Finlândia , Testes Genéticos/economia , Humanos , Pessoa de Meia-Idade , Avaliação de Resultados (Cuidados de Saúde)/economia , Avaliação de Resultados (Cuidados de Saúde)/métodos , Prevenção Primária/economia , Prevenção Primária/métodos , Anos de Vida Ajustados por Qualidade de Vida , Fatores de Risco
14.
Gynecol Oncol ; 152(2): 328-333, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30528888

RESUMO

OBJECTIVE: The universal genetic testing initiative (UGTI) is a quality improvement effort to increase rates of guideline-based genetic counseling (GC) and genetic testing (GT) of patients with potentially hereditary cancers. The UGTI was disseminated to a county hospital gynecologic oncology clinic that serves a diverse, indigent patient population. METHODS: Using the Model for Improvement quality improvement framework, interventions including integrated GC, clinic tracking, assisted GC referrals, and provider education were tested over 26 months. A retrospective data review included patients with high-grade, non-mucinous epithelial ovarian, fallopian tube, and primary peritoneal cancers (HGOC) and endometrial cancers (EC) diagnosed between 9/1/12-8/31/16. Statistical analyses were performed to describe the population and to evaluate rates of recommendation and use of immunohistochemistry tumor testing (IHC), GC, and GT. RESULTS: A cohort of 241 patients (57 HGOC, 184 EC) were included. At the conclusion of the study 84.2% of HGOC patients were referred for GC, 89.6% (43/48) completed GC, and 90.7% (39/43) completed GT. Of EC patients, 81.0% were recommended to have IHC and 62.4% (93/149) completed IHC. Patients with HGOC diagnosed during dissemination of UGTI were significantly more likely to receive a recommendation for GC (p = 0.02) and to complete GT (p = 0.03) than those diagnosed before UGTI. Patients with EC were significantly more likely to complete IHC if diagnosed after UGTI than those diagnosed prior to dissemination (p < 0.001). CONCLUSIONS: The UGTI can be adapted to increase use of guideline-based cancer genetics services in a diverse, indigent, gynecologic cancer patient population.


Assuntos
Testes Genéticos/métodos , Neoplasias dos Genitais Femininos/genética , Adulto , Idoso , Carcinoma Epitelial do Ovário/genética , Estudos de Coortes , Neoplasias das Tubas Uterinas/genética , Feminino , Aconselhamento Genético/economia , Aconselhamento Genético/métodos , Testes Genéticos/economia , Neoplasias dos Genitais Femininos/economia , Hospitais de Condado/economia , Hospitais de Condado/organização & administração , Humanos , Pessoa de Meia-Idade , Neoplasias Peritoneais/genética , Pobreza , Estudos Retrospectivos , Adulto Jovem
17.
Manag Care ; 27(7): 12-15, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29989893

RESUMO

Genetic tests are all the rage, but insurers are well aware of the downside. Genomics is complicated, and test results are often couched in uncertainty and loaded with caveats. The tests available to consumers may not be clinical quality, so if something questionable pops up, the tests need to be redone anyway. A positive result could also lead to a cascade of additional, expensive, and potentially risky diagnostic tests.


Assuntos
Aconselhamento Genético/economia , Testes Genéticos/economia , Planos de Assistência de Saúde para Empregados/economia , Humanos , Estados Unidos
18.
Seizure ; 59: 132-140, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29852413

RESUMO

PURPOSE: To report our institutional experience of targeted massively parallel sequencing (MPS) testing in children with epilepsy. METHOD: We retrospectively analysed the yield of targeted epileptic encephalopathy (EE) panel of 71 known EE genes in patients with epilepsy of unknown cause, who underwent clinical triage by a group of neurologists prior to the testing. We compared cost of the EE panel approach compared to traditional evaluation in patients with identified pathogenic variants. RESULTS: The yield of pathogenic variants was 28.5% (n = 30/105), highest in early onset EE <3 months including Ohtahara syndrome (52%, n = 10/19) and lowest in generalized epilepsy (0/17). Patients identified with pathogenic variants had earlier onset of seizures (median 3.6 m vs 1.1y, p < 0.001, OR 0.6/year, P < 0.02) compared to those without pathogenic variants. Pathogenic/likely pathogenic variants were found in ALDH7A1 (2), CACNA1A (1), CDKL5 (3), FOXG1 (2), GABRB3 (1), GRIN2A (1), KCNQ2 (4), KCNQ3 (1), PRRT2 (1), SCN1A (6), SCN2A (2), SCN8A (2), SYNGAP1 (1), UBE3A (2) and WWOX (1) genes. This study expands the inheritance pattern caused by KCNQ3 mutations to include an autosomal recessive severe phenotype with neonatal seizures and severe developmental delay. The average cost of etiological evaluation was less with early use of EE panel compared to the traditional investigation approach ($5990 Australian dollars (AUD) vs $13069 AUD ; p = 0.02) among the patients with identified pathogenic variants. CONCLUSION: Targeted MPS testing is a comprehensive and economical investigation that enables early genetic diagnosis in children with EE. Careful clinical triage and selection of patients with young onset EE may maximize the yield of EE panel testing.


Assuntos
Epilepsia/diagnóstico , Epilepsia/genética , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Adolescente , Criança , Pré-Escolar , Análise Custo-Benefício , Epilepsia/economia , Feminino , Predisposição Genética para Doença , Testes Genéticos/economia , Testes Genéticos/métodos , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala/economia , Humanos , Lactente , Masculino , Fenótipo , Estudos Retrospectivos
20.
PLoS One ; 13(2): e0191228, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29389947

RESUMO

BACKGROUND: Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare. OBJECTIVES: To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital. METHODS: This is a prospective study of the clinical utility of WES in a series of 40 consecutive patients selected from a Neurogenetic Clinic of a tertiary Hospital in Argentina. We evaluated patients retrospectively for previous diagnostic trajectories. Diagnostic yield, clinical impact on management and economic diagnostic burden were evaluated. RESULTS: We demonstrated the clinical utility of Whole Exome Sequencing in our patient cohort, obtaining a diagnostic yield of 40% (95% CI, 24.8%-55.2%) among a diverse group of neurological disorders. The average age at the time of WES was 23 (range 3-70). The mean time elapsed from symptom onset to WES was 11 years (range 3-42). The mean cost of the diagnostic workup prior to WES was USD 1646 (USD 1439 to 1853), which is 60% higher than WES cost in our center. CONCLUSIONS: WES for neurogenetics proved to be an effective, cost- and time-saving approach for the molecular diagnosis of this heterogeneous and complex group of patients.


Assuntos
Análise Custo-Benefício , Testes Genéticos/economia , Sequenciamento de Nucleotídeos em Larga Escala/economia , Doenças do Sistema Nervoso/diagnóstico , Sequenciamento Completo do Exoma/economia , Adolescente , Adulto , Idoso , Argentina , Criança , Pré-Escolar , Exoma , Feminino , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/economia , Doenças do Sistema Nervoso/genética , Estudos Prospectivos , Sequenciamento Completo do Exoma/métodos , Adulto Jovem
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