The impact of insurance coverage on the prenatal genetic counseling process: An exploration of genetic counselors' experiences with TRICARE.

The prenatal genetic counseling process may be influenced by the patient's insurance coverage for both prenatal testing and termination. Major commercial insurance providers have different policies. TRICARE is the United States Department of Defense health program for uniformed service members. TRICARE provides coverage to approximately 9.4 million beneficiaries, including health plans, special programs, prescriptions, and dental plans. TRICARE's covered medical expenses are outlined in their policies, including those pertaining to genetic testing and termination. This qualitative study aimed to explore the extent to which insurance coverage of prenatal genetic testing and termination of pregnancy affect the genetic counseling process by exploring genetic counselors' experience with TRICARE. The majority of counselors stated that they did not change their overall counseling process for TRICARE patients. However, several counselors expressed that they changed the way they discussed cost with TRICARE patients, specifically in regard to genetic testing. Additionally, counselors provided their perceptions of their patients' emotional experiences. With the recent consolidation of the three TRICARE regions into two TRICARE Regional Office (TRO) regions and the renewal of the Laboratory Developed Tests Demonstration Project, the findings of this study are valuable in the evaluation of TRICARE's coverage of prenatal genetic services.

Consideraciones éticas en el diagnóstico presintomático de ataxias espinocerebelosas autosómico dominantes / Ethical considerations in presymptomatic diagnosis of autosomal dominant spinocerebellar ataxias

Introducción: Existe información limitada de la realización de diagnóstico presintomático en ataxias espinocerebelosas (SCA) autosómicas dominantes. La llegada del diagnóstico molecular, además de brindar la posibilidad de realizar identificación en pacientes portadores de distintas enfermedades, permitió también la posibilidad de detectar enfermedades incluso antes de su presentación. Esto atrajo la atención sobre las implicaciones éticas que deberían ser consideradas en estos sujetos, con la finalidad de salvaguardar su bienestar físico y psicológico. Desarrollo: La SCA está compuesta por un grupo de trastornos neurodegenerativos con patrón de herencia autosómico dominante. Existen pocas publicaciones que describen el proceso de asesoramiento y los lineamientos considerados durante el proceso de diagnóstico presintomático. El número de integrantes de los equipos multidisciplinarios, sus áreas de especialidad y número de sesiones durante el asesoramiento es variable en cada uno de los trabajos analizados. Sin embargo, las bases para su realización tienen origen en documentos comunes, en los cuales algunos de los autores han participado en fechas más recientes. Conclusiones: El diagnóstico presintomático debe ser realizado bajo lineamientos que salvaguarden el bienestar de los sujetos. Sería recomendable que el diagnóstico de SCA sea realizado solo a pacientes con clínica sugestiva, mayores de 18 años y con un riesgo mínimo del 50%. Deben estar disponibles esquemas de asesoramiento genético en todos aquellos centros que pretenden realizar diagnóstico de SCA antes de la presentación de síntomas (AU)

Introduction: Information on achieving presymptomatic diagnosis of spinocerebellar ataxia (SCA) is limited. The advent of molecular diagnosis makes it possible to identify the carriers of different diseases and has also introduced the prospect of detecting diseases even before their onset. This has drawn attention to the ethical implications that must be considered in these subjects with a view to preserving their physical and psychological well-being. Development: SCA is composed of a group of neurodegenerative disorders with autosomal dominant inheritance. Only a few publications have described the genetic counselling processes and guidelines to be followed during the process of presymptomatic diagnosis (PSD). The size of the multidisciplinary teams, their areas of expertise, and the number of counselling sessions are different for each of the studies analysed here. However, the basis of presymptomatic diagnosis originates in common guidelines to which members of our team have contributed recently. Conclusion: Presymptomatic diagnosis should be performed according to guidelines that safeguard the subjects’ welfare. The diagnostic process is only recommended for patients over 18 years old with symptoms suggesting SCA, and a minimum risk of 50%. Genetic counselling programmes must be available in all centres that offer presymptomatic diagnosis of SCA (AU)

Trends in Unmet Need for Genetic Counseling Among Children With Special Health Care Needs, 2001-2010.

OBJECTIVE: Access to genetic counseling is increasingly important to guide families' and clinicians' decision making, yet there is limited research on accessibility and affordability of counseling for families with children with special health care needs (CSHCN). Our study's objectives were to measure changes in unmet need for genetic counseling for CSHCN from 2001 to 2010 and to characterize child, family, and health system factors associated with unmet need. METHODS: We used parent-reported data from the 2001, 2005-2006, and 2009-2010 National Survey of Children With Special Health Care Needs. We used a logistic regression model to measure the impact of survey year, child (sex, age, severity of health condition), family (primary language, household income, insurance, financial problems related to cost of CSHCN's health care), and health system factors (region, genetic counselors per capita, having a usual source of care) on access to genetic counseling. RESULTS: Unmet need for genetic counseling increased significantly in 2009-2010 compared to 2001 (odds ratio 1.89; 95% confidence interval [CI] 1.44-2.47). Being older (adjusted odds ratio [aOR] 1.04; 95% CI 1.02-1.06), having severe health limitations (aOR 1.72; 95% CI 1.16-2.58), being uninsured (aOR 3.56; 95% CI 2.16-5.87), and having family financial problems due to health care costs (aOR 1.90; 95% CI 1.52-2.38) were significantly associated with greater unmet need for genetic counseling. Having a usual source of care was associated with decreased unmet need (aOR 0.55; 95% CI 0.37-0.83). CONCLUSIONS: Unmet need for genetic counseling has increased over the past 12 years. Uninsurance and financial problems related to health care costs were the largest drivers of unmet need over time.

[Challenges for the universalization of clinical genetics: the Brazilian case]. / Desafios para a universalização da genética clínica: o caso brasileiro.

The present article deals with the difficulties of introducing medical genetics as part of the Brazilian public Unified Health System (SUS). A national policy of comprehensive care in medical genetics was established in 2009, having genetic counseling as a central pillar. However, there are strategic limitations to the implementation of this policy: a dearth of genetic counseling training programs, the lack of knowledge concerning the number of professionals available to provide genetic counseling, and the likely low number of professionals available for the job. A joint effort by the ministries of health and education is desirable to foster genetics and genetic counseling training for all health professions. In addition, genetics must be introduced in government programs such as the Family Health Program (Saúde da Família), a measure that would allow a mapping of the incidence of genetic diseases in the country and the implementation of genetic counseling despite the size of the territory and the population heterogeneity. Lastly, the introduction of medical genetics as part of the SUS depends on the engagement of medical and nonmedical professionals in horizontal teamwork, with a change in the hierarchy that has traditionally been at the foundations of health care.

Desafios para a universalização da genética clínica: o caso brasileiro / Challenges for the universalization of clinical genetics: the Brazilian case

Este artigo aborda as dificuldades de inserir a genética médica como parte do Sistema Único de Saúde (SUS) no Brasil. Em 2009, foi instituída no Brasil a Política Nacional de Atenção Integral em Genética Médica, cujo pilar central seria o aconselhamento genético. Porém, são problemas estratégicos para a implementação dessa política a falta de programas de formação em aconselhamento genético, o desconhecimento acerca de quantos profissionais existem para prestar esse aconselhamento e o provável baixo número de profissionais disponíveis. É desejável uma atuação conjunta dos Ministérios da Saúde e da Educação para ampliar a educação em genética e a formação em aconselhamento genético para todas as profissões no campo da saúde. Além disso, é essencial a inclusão da genética em programas como o Saúde da Família, que permitirá um mapeamento da incidência das doenças genéticas no país e a implementação de aconselhamento genético apesar do grande território e da heterogeneidade populacional do Brasil. Finalmente, a inserção da genética médica no SUS depende do engajamento de profissionais médicos e não médicos no trabalho em equipes horizontais, com alteração da tradicional hierarquia da atenção à saúde.

The present article deals with the difficulties of introducing medical genetics as part of the Brazilian public Unified Health System (SUS). A national policy of comprehensive care in medical genetics was established in 2009, having genetic counseling as a central pillar. However, there are strategic limitations to the implementation of this policy: a dearth of genetic counseling training programs, the lack of knowledge concerning the number of professionals available to provide genetic counseling, and the likely low number of professionals available for the job. A joint effort by the ministries of health and education is desirable to foster genetics and genetic counseling training for all health professions. In addition, genetics must be introduced in government programs such as the Family Health Program (Saúde da Família), a measure that would allow a mapping of the incidence of genetic diseases in the country and the implementation of genetic counseling despite the size of the territory and the population heterogeneity. Lastly, the introduction of medical genetics as part of the SUS depends on the engagement of medical and nonmedical professionals in horizontal teamwork, with a change in the hierarchy that has traditionally been at the foundations of health care.

A micro costing of NHS cancer genetic services.

This paper presents the first full micro costing of a commonly used cancer genetic counselling and testing protocol used in the UK. Costs were estimated for the Cardiff clinic of the Cancer Genetics Service in Wales by issuing a questionnaire to all staff, conducting an audit of clinic rooms and equipment and obtaining gross unit costs from the finance department. A total of 22 distinct event pathways were identified for patients at risk of developing breast, ovarian, breast and ovarian or colorectal cancer. The mean cost per patient were pound sterling 97- pound sterling 151 for patients at moderate risk, pound sterling 975- pound sterling 3072 for patients at high risk of developing colorectal cancer and pound sterling 675- pound sterling 2909 for patients at high risk of developing breast or ovarian cancer. The most expensive element of cancer genetic services was labour. Labour costs were dependent upon the amount of labour, staff grade, number of counsellors used and the proportion of staff time devoted to indirect patient contact. With the growing demand for cancer genetic services and the growing number of national and regional cancer genetic centers, there is a need for the different protocols being used to be thoroughly evaluated in terms of costs and outcomes.

Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients.

The pedigrees of 192 subjects at risk of Duchenne or Becker muscular dystrophy, myotonic dystrophy, or balanced chromosome translocations attending three regional genetic clinics were inspected to identify relatives who were themselves at high risk of these disorders. Of the 342 relatives eligible for inclusion, 43% (63/147) of the register relatives and 26% (50/195) of the non-register relatives had had contact with the clinical genetic services, a significant difference (p<0.02). Relatives from families with muscular dystrophy were significantly more likely to have been in contact with genetic services than those from BT families. Fifty-two relatives were interviewed about their experience and attitudes regarding genetic counselling. Almost all regarded knowledge about the family genetic disorder as helpful, and only one thought it unacceptable for relatives to be informed that they are at risk; 94% thought it was acceptable for this information to come from family members, 92% from general practitioners, and 90% from the clinical genetic service. A majority of relatives (53%) thought it was the family's responsibility to pass on genetic risk information, but 22% said the genetic service should be responsible and 18% thought it should be the GP. These data, together with the findings from the study of probands attending genetic clinics for these disorders, indicate that the genetic register approach incorporating long term follow up and a proactive approach to genetic counselling is acceptable to the families concerned and improves access to genetic services for at risk relatives.

Hipoacúsia: de la sospita al tractament (i II) / Hearing impairment: from suspicion to treatment (and II)

No disponible

Hipoacusia y síndrome de Waardenburg: experiencia de cinco años en el Instituto Nacional de Pediatría / Hypoacusis and Waardenburg syndrome: five years experience at the Instituto Nacional de Pediatría

Se revisaron retrospectivamente los expedientes de pacientes con el síndrome de Waardenburg, entre mayo de 1988 y febero de 1993, se buscó el grado de hipoacusia como característica clínica del síndrome y el tipo del mismo. En la literatura, la hipoacusia varía en frecuencia y grado, nosotros observamos que es la principal manifestación clínica, con una frecuencia significativamente más alta (86.60 por ciento), debiéndose considerar como primordial para el consejo genético en las familias afectadas por el síndrome de Waardenburg

The organization and delivery of clinical genetics services.

Advances in genetics, including mapping the human genome, improved therapy for genetic disorders, recognition of the role of genetic factors in common diseases of adulthood, and new screening tests for carrier detection and presymptomatic diagnosis create an increased demand for and awareness of clinical genetic services. These services, focusing on diagnosis, management, and genetic counseling, had been supported by a variety of state, provincial, federal, and foundation grants. As clinical genetics has evolved from a service with roots in research provided solely at academic medical centers to one widely available in the community, the services in the United States are increasingly provided on a fee-for-service basis in various settings including private hospitals, state-supported outreach clinics, and free-standing genetics centers, whereas in Canada they are generally based in university hospital settings and are covered by universal health care. Given the limited numbers of clinical geneticists and genetic counselors now practicing, much of the application in this decade of new genetic technologies and knowledge will fall upon primary care physicians.