RESUMEN
Approximately 1 in 2 Japanese people are estimated to be diagnosed with cancer during their lifetime. Cancer still remains the leading cause of death in Japan, therefore the government of Japan has decided to develop a better cancer control policy and launched the Cancer Genomic Medicine (CGM) program. The Ministry of Health, Labour, and Welfare (MHLW) held a consortium at their headquarters with leading academic authorities and the representatives of related organizations to discuss ways to advance CGM in Japan. Based on the report of the consortium, the CGM system under the national health insurance system has gradually been realized. Eleven hospitals were designated in February 2018 as core hospitals for CGM; subsequently, the MHLW built the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) as an institution to aggregate and manage genomic and clinical information on cancer patients, and support appropriate secondary use of the aggregated information to develop research aimed at medical innovation. As the first step in Japan's CGM in routine practice, in June 2019 the MHLW started reimbursement of 2 types of tumor profiling tests for advanced solid cancer patients using the national insurance system. Japan's CGM has swiftly been spreading nationwide with the collaboration of 167 hospitals and patients. The health and research authorities are expected to embody personalized cancer medicine and promote CGM utilizing state-of-the-art technologies.
Asunto(s)
Genómica/organización & administración , Implementación de Plan de Salud , Oncología Médica/organización & administración , Programas Nacionales de Salud/organización & administración , Neoplasias/terapia , Ensayos Clínicos como Asunto/organización & administración , Asesoramiento Genético/economía , Asesoramiento Genético/organización & administración , Pruebas Genéticas/economía , Genómica/economía , Genómica/métodos , Humanos , Japón , Oncología Médica/economía , Oncología Médica/métodos , Programas Nacionales de Salud/economía , Neoplasias/diagnóstico , Neoplasias/economía , Neoplasias/genética , Medicina de Precisión/economía , Medicina de Precisión/métodos , Mecanismo de Reembolso , Terapias en Investigación/economíaRESUMEN
The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID-19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow-up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists, genetic counselors, and biochemical dietitians, together and separately. This allowed the program to develop detailed standard operating procedures. At the onset of the COVID-19 pandemic, this pilot-program was deployed by the full team of 22 providers in one business day. Two physicians remained on-site for patients requiring in-person evaluations. This model optimized patient safety and workforce preservation while providing full access to patients during a pandemic. We provide initial data on visit numbers, types of diagnoses, and no-show rates. Experience in this implementation before and during the pandemic has confirmed the effectiveness and value of telemedicine for a highly complex medical population. This program is a model that can and will be continued well-beyond the current crisis.
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COVID-19/epidemiología , Atención a la Salud/organización & administración , Endocrinología/organización & administración , Genética Médica/organización & administración , Modelos Organizacionales , Pandemias , Telemedicina/organización & administración , Adolescente , Adulto , Niño , Preescolar , Atención a la Salud/métodos , Atención a la Salud/normas , Endocrinología/educación , Femenino , Asesoramiento Genético/métodos , Asesoramiento Genético/organización & administración , Asesoramiento Genético/normas , Enfermedades Genéticas Congénitas/epidemiología , Enfermedades Genéticas Congénitas/terapia , Pruebas Genéticas/métodos , Pruebas Genéticas/normas , Genética Médica/educación , Humanos , Ciencia de la Implementación , Lactante , Recién Nacido , Internado y Residencia/métodos , Internado y Residencia/organización & administración , Internado y Residencia/normas , Masculino , Enfermedades Metabólicas/epidemiología , Enfermedades Metabólicas/terapia , Persona de Mediana Edad , Seguridad del Paciente , Proyectos Piloto , Evaluación de Programas y Proyectos de Salud , Telemedicina/métodos , Adulto JovenRESUMEN
PURPOSE: Several professional organizations recommend universal genetic assessment for people with ovarian cancer as identifying pathogenic variants can affect treatment, prognosis, and all-cause mortality for patients and relatives. We sought to evaluate the literature on genetic assessment for women with ovarian cancer and determine if any interventions or patient characteristics drive utilization of services. METHODS: We searched key electronic databases to identify trials that evaluated genetic assessment for people with ovarian cancer. Trials with the primary aim to evaluate utilization of genetic assessment with or without interventions were included. Eligible trials were subjected to meta-analysis and the moderating influence of health interventions on rates of genetic assessment were examined. RESULTS: A total of 35 studies were included (19 report on utilization of genetic services without an intervention, 7 with an intervention, and 9 with both scenarios). Without an intervention, pooled estimates for referral to genetic counseling and completion of genetic testing were 39% [CI 27-53%] and 30% [CI 19-44%]. Clinician-facilitated interventions included: mainstreaming of genetic services (99% [CI 86-100%]), telemedicine (75% [CI 43-93%]), clinic-embedded genetic counselor (76% [CI 32-95%]), reflex tumor somatic genetic assessment (64% [CI 17-94%]), universal testing (57% [28-82%]), and referral forms (26% [CI 10-53%]). Random-effects pooled proportions demonstrated that Black vs. White race was associated with a lower rate of genetic testing (26%[CI 17-38%] vs. 40% [CI 25-57%]) as was being un-insured vs. insured (23% [CI 18-28%] vs. 38% [CI 26-53%]). CONCLUSIONS: Reported rates of genetic testing for people with ovarian cancer remain well below the goal of universal testing. Interventions such as mainstreaming can improve testing uptake. Strategies aimed at improving utilization of genetic services should consider existing disparities in race and insurance status.
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Detección Precoz del Cáncer/estadística & datos numéricos , Asesoramiento Genético/organización & administración , Pruebas Genéticas/estadística & datos numéricos , Neoplasias Ováricas/diagnóstico , Derivación y Consulta/organización & administración , Proteína BRCA1/genética , Proteína BRCA2/genética , Análisis Mutacional de ADN/estadística & datos numéricos , Femenino , Asesoramiento Genético/estadística & datos numéricos , Humanos , Neoplasias Ováricas/genética , Neoplasias Ováricas/prevención & control , Derivación y Consulta/estadística & datos numéricos , Telemedicina/organización & administración , Telemedicina/estadística & datos numéricosRESUMEN
OBJECTIVE: Germline genetic testing is crucial to the care of ovarian cancer patients, and as part of the guideline-based care for ovarian cancer patient's adherence to this recommendation has been low. We sought to determine whether embedding a genetic counselor (GC) within a medical and gynecologic oncology clinic would increase testing rates and improve the timeliness of testing. METHODS: Prospective cohort study of 358 ovarian cancer patients seen by medical and gynecologic oncologists between 2013 and 2015. Rates of referrals, completion of counseling, and genetic testing and timeliness of counseling were abstracted before and after a GC was embedded in the clinic in 2014. An additional year of data (2015) was collected to evaluate sustainability of the intervention. RESULTS: Between 2013 and 2015, 88-92% of women were referred for genetic testing, but in 2013 only 66% completed counseling and 61% were tested. After a GC was embedded in the clinic in 2014, more than 80% of referred women completed counseling and germline genetic testing. Time to genetic counseling also decreased from a median of 107 to 40 days, irrespective of age and cancer family history (p < 0.01). CONCLUSIONS: Embedding a GC into the workflow for ovarian cancer patients is an effective way of improving access to genetic counseling, testing rates, and the timeliness of testing.
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Asesoramiento Genético/organización & administración , Pruebas Genéticas/estadística & datos numéricos , Neoplasias Ováricas/diagnóstico , Cooperación del Paciente/estadística & datos numéricos , Adulto , Anciano , Anciano de 80 o más Años , Consejeros/organización & administración , Consejeros/estadística & datos numéricos , Femenino , Asesoramiento Genético/estadística & datos numéricos , Predisposición Genética a la Enfermedad , Pruebas Genéticas/normas , Humanos , Anamnesis , Oncología Médica/organización & administración , Oncología Médica/normas , Persona de Mediana Edad , Neoplasias Ováricas/genética , Guías de Práctica Clínica como Asunto , Estudios Prospectivos , Derivación y Consulta/organización & administración , Derivación y Consulta/estadística & datos numéricos , Factores de Tiempo , Adulto JovenAsunto(s)
Infecciones por Coronavirus/epidemiología , Asesoramiento Genético/organización & administración , Genética Médica/organización & administración , Pandemias , Neumonía Viral/epidemiología , Programas Informáticos , Telemedicina/organización & administración , Betacoronavirus/patogenicidad , COVID-19/virología , Infecciones por Coronavirus/virología , Genética Médica/instrumentación , Genética Médica/métodos , Accesibilidad a los Servicios de Salud/ética , Accesibilidad a los Servicios de Salud/organización & administración , Disparidades en Atención de Salud/ética , Humanos , Neumonía Viral/virología , Garantía de la Calidad de Atención de Salud , SARS-CoV-2 , Telemedicina/instrumentación , Telemedicina/métodosRESUMEN
The COVID-19 pandemic widely disrupted the delivery of healthcare services, including genetic counseling. To ensure continuity of care, the reproductive genetic counselors at a large academic medical center in the United States rapidly transitioned their practice from 90% in-person patient consultations to a predominantly telehealth model. The present study describes this transition in regard to patient access to genetic counseling and genetic screening. A chart review of patients seen by the reproductive genetic counselors from January 2020 to August 2020 was completed. The time frame included the three months prior to the COVID-19 pandemic and the first five months during COVID-19. Patient demographics and clinical and appointment data were compared between the pre-COVID-19 and during-COVID-19 timeframes. Overall, 88.6% of patients were seen via telehealth during COVID-19 and there was no significant difference based upon patient age (p = .20), indication for appointment (p = .06), or gestational age (p = .06). However, non-English speaking patients were more often seen in-person than by telehealth (p < .001), and more patients residing farther from the clinic were seen via telehealth (p = .004). During-COVID-19 results for prenatal cell-free DNA screening and expanded carrier screening were delayed (p < .001). Additionally, after consenting to screening, patients seen during COVID-19 were more likely to not complete a sample collection for their intended screening when compared to those seen pre-COVID-19 (OR = 6.15, 95% CI = 1.43-26.70, p = .015). Overall, this study supports that access to genetic counseling services and genetic screening can be maintained during a global pandemic like COVID-19. Genetic counselors are well-equipped to pivot swiftly during challenging times; however, they must continue to work to address other barriers to accessing genetic services, especially for non-English speaking populations. Future studies are needed to pose solutions to the obstacles confronted in this service delivery model during a global pandemic.
Asunto(s)
Centros Médicos Académicos , COVID-19 , Asesoramiento Genético/organización & administración , COVID-19/epidemiología , Femenino , Humanos , Pandemias , Embarazo , Telemedicina , Tennessee/epidemiologíaRESUMEN
The COVID-19 pandemic caused significant disruptions to the delivery of genetic counseling services and clinical operations. Understanding how these pivots in practice affected patient care across both a county hospital system and academic medical center can help provide models of clinical operations for other genetic counselors. Programmatic data were analyzed between March 18, 2020 and September 18, 2020, including visit completion rates and genetic testing completion outcomes for genetic counseling services during the COVID-19 pandemic. In addition to analyzing the effects on patient care, we provide commentary on technological adaptations that aided our operations, billing practices, onboarding and engaging new and existing staff, and coordination of education and outreach opportunities. Through this work, we highlight barriers encountered and successful adaptations that will influence future clinical practices and may guide other providers in the development of strategies to meet their clinical and operational needs.
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COVID-19 , Asesoramiento Genético/organización & administración , COVID-19/epidemiología , Humanos , Pandemias , TelemedicinaRESUMEN
The unique situational challenges of the COVID-19 pandemic have demanded creative modifications to the delivery of genetic services. Institutions across the country have adapted workflows to continue to provide quality care while minimizing the need for physical visits. As the first epicenter of the pandemic in the country, New York City healthcare workers and residents had to make rapid, unprecedented changes to their way of life. This article describes the workflow adaptations of genetic counselors across various clinical settings at New York Presbyterian/Columbia University Irving Medical Center, the largest provider of genetics care in New York City, during the height of the COVID-19 pandemic. The authors observe how the adaptations impacted clinical care and the genetic counselors. Our lived experience and account can provide guidance for others during the current and future pandemics.
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Centros Médicos Académicos , Instituciones de Atención Ambulatoria/organización & administración , COVID-19 , Asesoramiento Genético/organización & administración , Adaptación Psicológica , COVID-19/epidemiología , Humanos , Ciudad de Nueva York/epidemiología , PandemiasRESUMEN
The 2020 COVID-19 pandemic has rendered in-person provision of genetic counseling impossible for prolonged periods in many countries, mandating a sudden shift to remote delivery. We used qualitative thematic analysis to explore Italian genetics professionals' experience with remote genetic counseling. Fourteen group and four individual interviews were conducted after participants had delivered one or more remote sessions via videoconference or on the telephone. Data were coded and grouped under themes. Three main themes were identified as follows: (a) technical and logistical issues, (b) communication issues, and (c) clinical content and outcome of the session. The participants acknowledged that not having to travel to the clinic saves consultands time and expense. They also highlighted that not sharing a physical space with consultands and having to rely on technology can negatively impact on effective communication, building trusting relationships, and performing accurate psychosocial assessments. Regarding the clinical content of sessions, remote genetic counseling was perceived to favor greater focus and succinct, to the point communication. However, participants also felt uncomfortable not being able to use visual aids to support the explanation of complex concepts. Moreover, demographics and the socio-cultural status of consultands emerged as factors influencing the outcome of remote genetic counseling sessions. Finally, participants reported feeling that more experience with this novel approach would improve their confidence and their ability to adapt their counseling skills as appropriate. Based on these findings, we suggest that effective, equitable provision of remote genetic counseling will require an infrastructure that is able to support video counseling, sharing of clinical documents and visual aids, and connect with a wide range of devices. Moreover, the structure of sessions should be tailored to the specific requirements of remote genetic counseling and suitable training efforts should be promoted to enhance professionals' communication skills.
Asunto(s)
COVID-19 , Asesoramiento Genético/organización & administración , Telemedicina/organización & administración , Adulto , COVID-19/epidemiología , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , PandemiasRESUMEN
Inherited eye diseases (IED) are among the most common causes for childhood and young adulthood blindness in developed countries. Genetic counseling and testing have become an essential part of caregiving for families affected by one of these severe ocular pathologies. The objective of our study is to describe our experience during the 2020 (COVID-19) pandemic, following a practice protocol of safe genetic counseling for inherited ophthalmic diseases. We conducted a review of the genetic counseling practices from January until December 2020 in a multidisciplinary clinic for patients with visual impairment, in a tertiary hospital. The new protocol covered patient screening, required personal protective equipment, and the implementation of telemedicine. One hundred and eighty-three counseling sessions were done in this period of time; 33/183 were telemedicine counseling. The results of this study indicate that the practice of genetic counseling in regard to inherited eye diseases in the era of COVID-19 is effective and safe. Despite the high risk of infectivity that threatened healthcare professionals, safety measures adopted to reduce the risk of infection allowed us to prevent the cancelation of routine counseling, while keeping patient care our priority. The use of telemedicine was a very useful tool for providing counseling during lockdown periods in 2020.
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COVID-19 , Oftalmopatías/genética , Asesoramiento Genético/organización & administración , Telemedicina/organización & administración , COVID-19/epidemiología , COVID-19/prevención & control , Control de Enfermedades Transmisibles , Asesoramiento Genético/normas , Humanos , Israel/epidemiología , Pandemias , Telemedicina/normasRESUMEN
BACKGROUND: Timely genetic testing at ovarian cancer diagnosis is essential as results impact front line treatment decisions. Our objective was to determine rates of genetic counseling and testing with an expedited genetics referral pathway wherein women with newly-diagnosed ovarian cancer are contacted by a genetics navigator to facilitate genetic counseling. METHODS: Patients were referred for genetic counseling by their gynecologic oncologist, contacted by a genetics navigator and offered appointments for genetic counseling. Patients completed quality of life (QoL) surveys immediately pre- and post-genetic assessment and 6â¯months later. The primary outcome was feasibility of this pathway defined by presentation for genetic counseling. RESULTS: From 2015 to 2018, 100 patients were enrolled. Seventy-eight had genetic counseling and 73 testing. Median time from diagnosis to genetic counseling was 34â¯days (range 10-189). Among patients who underwent testing, 12 (16%) had pathogenic germline mutations (BRCA1-7, BRCA2-4, MSH2-1). Sixty-five patients completed QoL assessments demonstrating stress and anxiety at time of testing, however, scores improved at 6â¯months. Despite the pathway leveling financial and logistical barriers, patients receiving care at a public hospital were less likely to present for genetic counseling compared to private hospital patients (56% versus 84%, Pâ¯=â¯0.021). CONCLUSIONS: Facilitated referral to genetic counselors at time of ovarian cancer diagnosis is effective, resulting in high uptake of genetic counseling and testing, and does not demonstrate a long term psychologic toll. Concern about causing additional emotional distress should not deter clinicians from early genetics referral as genetic testing can yield important prognostic and therapeutic information.
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Ansiedad/genética , Carcinoma Epitelial de Ovario/genética , Depresión/genética , Asesoramiento Genético/organización & administración , Pruebas Genéticas , Neoplasias Ováricas/genética , Estrés Psicológico/genética , Adulto , Anciano , Anciano de 80 o más Años , Ansiedad/etiología , Carcinoma Epitelial de Ovario/psicología , Depresión/etiología , Femenino , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/psicología , Estudios Prospectivos , Derivación y Consulta/organización & administración , Estrés Psicológico/etiología , Adulto JovenRESUMEN
OBJECTIVE: To report the frequency of Lynch syndrome (LS) in a cohort of patients from Southeast Brazil bearing endometrial cancer (EC), using a tumor screening universal approach. METHODS: A total of 242 endometrial carcinomas were screened by immunohistochemistry (IHC) and microsatellite instability (MSI) for detection of DNA mismatch repair deficiency (dMMR). MLH1 methylation was assessed to identify sporadic cases. Patients with dMMR tumors were recruited for germline variant analysis by next-generation sequencing of the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. RESULTS: Ninety-three out of 242 tumors (38.5%) were classified as dMMR based on MSI and IHC results. Of these, 54 cases were selected for germline analysis, and 37/54 (68.5%) were available for sequencing. Ten patients (10/37, 27%) harbored germline pathogenic or likely pathogenic variants, most of them in the MSH6 gene (4/10, 40%). Seven variants of uncertain significance were found. Eight novel germline variants were identified. The LS prevalence in our cohort was of at least 4.1%. LS patients presented lower mean age at cancer diagnosis compared with patients diagnosed with sporadic EC. Individuals with dMMR tumors, without germline pathogenic variants detected in LS-genes ("Lynch-like" syndrome), had an intermediate mean age at cancer diagnosis between LS and sporadic cases. CONCLUSION: This is the first report of the LS prevalence in EC screened by a universal approach in Brazil. Our findings contribute to a better understanding of the mutational landscape of this syndrome in Brazil, which is relevant for improved identification, genetic counseling, prevention and control of cancer in LS.
Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/epidemiología , Detección Precoz del Cáncer/estadística & datos numéricos , Neoplasias Endometriales/genética , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Brasil/epidemiología , Neoplasias Colorrectales Hereditarias sin Poliposis/complicaciones , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/prevención & control , Metilación de ADN , Reparación de la Incompatibilidad de ADN , Análisis Mutacional de ADN , Neoplasias Endometriales/diagnóstico , Neoplasias Endometriales/patología , Neoplasias Endometriales/prevención & control , Endometrio/patología , Femenino , Asesoramiento Genético/organización & administración , Asesoramiento Genético/estadística & datos numéricos , Mutación de Línea Germinal , Heterocigoto , Humanos , Inmunohistoquímica , Inestabilidad de Microsatélites , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Estudios RetrospectivosRESUMEN
The genetic counseling profession began shortly after the Civil Rights Movement, before effective strategies for inclusion of racial minorities had emerged. Given the historical context of the field and the continued lack of diversity in the professional body, inclusion among genetic counselors of social minority backgrounds is important to examine and address. A group of genetic counselors in the Boston area with social minority backgrounds initiated the Boston Minority Genetic Counselors (BMGC) group to bolster interconnection and support for themselves and their local genetic counselors and trainees of social minority backgrounds. In this paper, we describe the formation of the BMGC and its ongoing work. Future directions include using the BMGC model and/or that of similar organizations, such as the Minority Genetic Professionals Network, as a template to create similar genetic counseling groups that provide support around topics of social minority identities and promote sentiments of inclusion across the profession.
Asunto(s)
Asesoramiento Genético/organización & administración , Grupos Minoritarios , Boston , Consejeros , Femenino , HumanosRESUMEN
In 2010, the National Society of Genetic Counselors (NSGC) membership was surveyed about their use of genetic counseling service delivery models (SDMs) including in-person, telephone, telegenetics, and group genetic counseling. Since that time, the demand for genetic counseling services has increased in the United States (US). We hypothesized that the use of various SDMs has increased to help address the growing demand. To assess for changes in SDM use and interest in implementing innovative SDMs, the NSGC SDM subcommittee sent an electronic survey to the NSGC membership (N = 3,616), which was open from August 2017 to December 2017. Descriptive statistics and chi-square analysis were used to compare and identify differences in SDM utilization between 2010 and 2017. There were 590 total responses (16.3% response rate) with 517 usable responses, representing multiple genetic counseling specialties. Compared to 2010, significantly fewer respondents indicated they 'always' provide services in-person in 2017 (p < .04, df = 4), with 92.6% of respondents reporting 'always' or 'often' utilizing in-person SDM in 2017. Telephone genetic counseling was reported by 12.5% as a model used always or often, compared to 8% in 2010; however, the shift toward or away from telephone genetic counseling since 2010 was not statistically significant (p = .27, df = 4). The number of respondents using telegenetics always or often increased from 2.3% in 2010 to 6.7% in 2017, and more respondents report using telegenetics at an increased frequency (p < .01, df = 4). In contrast, those reporting use of a group genetic counseling SDM always or often decreased from 3.0% to 1.4%, though there was not a significant shift toward or away the frequency of respondents using group genetic counseling (p = .21, df = 4). Almost all respondents (93%) were interested in implementing an additional and/or different SDM; however, many (74%) identified barriers to implementation. There was an increase in those reporting use of 3 or 4 SDMs in practice since 2010 (p < .02). Genetic counselors may be attempting to compensate for longer wait times by implementing additional SDMs to improve access for patients. There is strong interest in learning about and implementing innovative SDMs to improve access and efficiency. However, resources need to be developed to help genetic counselors identify and overcome implementation barriers to achieve these goals.
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Asesoramiento Genético/organización & administración , Modelos Organizacionales , Innovación Organizacional , Estudios Transversales , Femenino , Historia del Siglo XXI , Humanos , Masculino , Estados UnidosRESUMEN
Prenatal testing and diagnosis are gaining a strong foothold in a progressively developing country like India, and an estimated boom in the market of noninvasive prenatal testing is predicted by the year 2024. Having said this, every technique needs an adequate amount of supplementation to increase its worth and that is where genetic counseling proves to be indispensable. Postdiagnosis, the women classified as high-risk individuals likely to give birth to infants inflicted with congenital and structural anomalies are appropriately counseled regarding the clinical aspects of the disease, life expectancy associated with the same, and the consequences associated with the decision to go ahead and conceive the child. Genetic counseling is majorly done for Down syndrome as the other aneuploidies have a highly reduced life expectancy. Although there are a variety of techniques available for testing various chromosomal anomalies, information regarding the appropriate time of the test and emphasis on pre- and posttest counseling is usually not supplied to primary physicians. A considerable amount of confusion dominates the decision of which test should be employed for testing of which anomaly as an array of rather efficient techniques has been identified. Furthermore, there is no nation-wide consensus of the timing and nature of these screening protocols. Moreover, ambiguous guidelines along with an impending lacuna in terms of awareness have led to India being at the backseat of the era that has ushered in tons of technological advancement in this field.
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Asesoramiento Genético/organización & administración , Pruebas Genéticas/métodos , Diagnóstico Prenatal/métodos , Aneuploidia , Biomarcadores , Femenino , Pruebas Genéticas/normas , Humanos , India , Guías de Práctica Clínica como Asunto , Embarazo , Diagnóstico Prenatal/normasRESUMEN
While general usability assessment models for websites have been developed for a wide variety of contexts, research literature on incorporating user feedback in the design of online scientific tools is lacking. In this article, we present an approach that we developed and illustrate how it was used to elicit user feedback of the AnalyzeMyVariant tool, which enables geneticists to use family pedigree data to calculate pathogenicity likelihood ratios for variants of unknown significance. We reviewed existing usability literature and developed a survey instrument emphasizing concepts of importance to online, data-driven, scientific tools. The items on the survey instrument were grouped in four categories: usability, quality, privacy and security, and satisfaction. We performed a two-part evaluation using the survey and a semi-structured interview protocol. The survey instrument was used to collect data about the use experience of AnalyzeMyVariant from 57 genetic experts and trainees who were recruited via email invitations. We also conducted semi-structured interviews with six genetics experts to explore work contexts in which users might use the tool and further delve into issues faced in tool use. Interviews were inductively coded and major themes identified using the constant comparative method. We found that the needs of genetics professionals vary for research- and clinically-focused work. These differences can inform the design of tools to serve their needs. The major contribution of this work is the description of a two-part method to elicit user feedback to inform the design of online, data-driven, scientific tools, which focuses on constructs of particular relevance to these tools such as usability, quality, privacy, security, and satisfaction. The survey instrument that we developed, coupled with contextual interviews, may serve as an example that can be used by others conducting usability studies of similar tools. In addition, our results emphasize the importance of considering contextual factors such as background knowledge, situational factors, and the intended application of results, in the usability evaluation of scientific software. It is our hope that this two-part approach might be adapted to assess the usability of other online scientific tools and facilitate the design of tools to meet the needs of their target audiences.
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Retroalimentación , Asesoramiento Genético/organización & administración , Pruebas Genéticas , Programas Informáticos , Encuestas y Cuestionarios , Femenino , Pruebas Genéticas/normas , Pruebas Genéticas/estadística & datos numéricos , Humanos , Internet , Masculino , LinajeRESUMEN
Remarkable advancements related to preconception and prenatal genetic screening have emerged in recent years. While technology and testing options are more numerous and complex; fundamental genetic counseling issues remain the same. It is essential that with any prenatal genetic testing, women have an opportunity to make informed and autonomous decisions that are consistent with their personal needs and values. Opportunities to discuss testing options, including potential benefits and limitations, are often limited in obstetric visits due to time constraints or lack of sufficient provider education. As genetic testing is not considered a routine component of antepartum care, review of information regarding testing options is imperative so women can decide which, if any, testing to pursue. Developing new strategies to address the growing complexity of prenatal testing while ensuring provider education is accurate is crucial in imparting evidence-based care. This article will arm providers with the knowledge needed to educate women about currently available prenatal genetic screening and diagnostic tests along with guidance on the essential elements and importance of genetic counseling.
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Tamización de Portadores Genéticos , Asesoramiento Genético/organización & administración , Pruebas Genéticas/métodos , Diagnóstico Prenatal/métodos , Toma de Decisiones Clínicas , Femenino , Predisposición Genética a la Enfermedad , Humanos , Folletos , Embarazo , Medición de RiesgoRESUMEN
BACKGROUND: The US Preventive Services Task Force (USPSTF) endorses routine screening for genetic risk of breast and/or ovarian cancer as a component of primary health care. Implementation of this recommendation may prove challenging, especially in clinics serving disadvantaged communities. METHODS: The authors tested the feasibility of implementing the USPSTF mandate at a federally qualified health center (FQHC) to identify women who were eligible for genetic counseling (GC). A 12-month usual-care phase was followed by a 12-month intervention phase, during which time cancer genetic risk assessment (CGRA) was systematically performed for all women aged 25 to 69 years who presented for an annual examination. Women who were eligible for GC were recruited to participate in the study. RESULTS: After initiating CGRA, 112 women who were eligible for GC consented to study participation, and 56% of them received a referral for GC from their primary care physician. A subgroup of 50 participants were seen by the same primary care physician during both the usual-care and intervention phases. None of these patients was referred for GC during usual care, compared with 64% after the initiation of CGRA (P < .001). Only 16% of referred participants attended a GC session. CONCLUSIONS: Implementing USPSTF recommendations for CGRA as a standard component of primary health care in FQHCs is feasible and improves referral of minority women for GC, but more work is needed to understand the beliefs and barriers that prevent many underserved women from accessing cancer genetic services.
Asunto(s)
Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Pruebas Genéticas , Implementación de Plan de Salud , Médicos de Atención Primaria/estadística & datos numéricos , Derivación y Consulta/estadística & datos numéricos , Adulto , Anciano , Neoplasias de la Mama/epidemiología , Chicago/epidemiología , Estudios de Factibilidad , Femenino , Financiación Gubernamental , Asesoramiento Genético/economía , Asesoramiento Genético/organización & administración , Asesoramiento Genético/estadística & datos numéricos , Pruebas Genéticas/economía , Pruebas Genéticas/métodos , Pruebas Genéticas/estadística & datos numéricos , Implementación de Plan de Salud/economía , Implementación de Plan de Salud/organización & administración , Implementación de Plan de Salud/estadística & datos numéricos , Disparidades en el Estado de Salud , Humanos , Tamizaje Masivo/economía , Tamizaje Masivo/métodos , Tamizaje Masivo/estadística & datos numéricos , Persona de Mediana Edad , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/genética , Médicos de Atención Primaria/economía , Pautas de la Práctica en Medicina/economía , Pautas de la Práctica en Medicina/estadística & datos numéricos , Servicios Preventivos de Salud/métodos , Atención Primaria de Salud/métodos , Evaluación de Programas y Proyectos de Salud , Derivación y Consulta/economía , Derivación y Consulta/organización & administración , Medición de Riesgo , Estados Unidos/epidemiologíaRESUMEN
OBJECTIVES: The aim of this study was to demonstrate the utility of a comprehensive program involving management-based evidence, telemedicine, and patient navigation to provide genetic counseling services for patients with ovarian and breast cancer across a geographically large health care system. METHODS: We identified all patients with newly diagnosed ovarian and breast cancer in our health care system from January 2013 to December 2015 through the cancer registry. Referral characteristics and testing outcomes were recorded for each year and compared using the χ or Fisher exact test. RESULTS: Because the implementation of this program, the number of new ovarian cancer cases remained constant (109-112 cases/year) but patients referred for genetic counseling increased annually from 37% to 43% to 96% (P < 0.05). The percentage of ovarian cancer patients who underwent genetic testing increased annually from 24% to 27% to 53% (P < 0.05). The number of new breast cancer patients was constant (1543-1638 cases/year). The percentage of patients with triple negative breast cancer referred for genetic counseling rose from 69% in 2013 to 91% in 2015; the percentage of patients who underwent testing increased annually from 59% to 86% (P < 0.05). Of women with breast cancer diagnosed at less than 45 years of age, 78% to 85% were referred for genetic counseling across this period; the percentage of patients who underwent testing increased annually from 66% to 82% (P < 0.05). Patient navigation was initiated and was available to all patients in the system during this period. Telemedicine consults were performed in 118 breast/ovarian patients (6%) during this period. CONCLUSIONS: A comprehensive program may improve access to effective genetic counseling services in patients with ovarian and breast cancer despite geographic barriers.
Asunto(s)
Neoplasias de la Mama/genética , Asesoramiento Genético/organización & administración , Neoplasias Ováricas/genética , Femenino , Asesoramiento Genético/estadística & datos numéricos , Humanos , Navegación de Pacientes , Programas Médicos Regionales/estadística & datos numéricos , Telemedicina/estadística & datos numéricosRESUMEN
Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework. The final product, "Framework for Outcomes of Clinical commUnication Services" (FOCUS) contains the following domains: communication strategy; communication process measures; patient care experience, patient changes, patient health; and family changes. A website was created to allow easier access and ongoing modifications to the framework. In addition, a step-by-step guide and two examples were created to show flexibility in how the framework can be used. FOCUS may help in conceptualizing, organizing and summarizing outcomes research related to risk communication and counseling in genetic service delivery as well as other healthcare settings.