Los asesores genéticos tienen muchas funciones y son fundamentales para ayudar a las personas a llegar a un diagnóstico preciso de una enfermedad genética. síndrome.

Asesoramiento genético is an integral, essential part of the genetic diagnosis process. It is a highly specialized service, and genetic counselors are responsible for guiding, supporting, and educating rare disease patients and their families throughout the entire diagnostic process. 

Los diferentes tipos de asesoramiento genitico

Genetic counseling what to expect: Due to different types and purposes of Pruebas genéticas, there are also different types of genetic counseling, to meet the specific and unique needs of each individual working through the diagnostic process. Each type of genetic testing is a specialist area in its own right, and the different types of genetic counseling reflect this also. 

El diagnóstico de una enfermedad rara puede ser un proceso complicado. Accediendo al tipo correcto de asesoramiento genitico, para el tipo de enfermedad rara que se investiga, es fundamental para todo el proceso de diagnóstico. 

Accediendo al tipo correcto de asesoramiento genitico también puede ayudar a reducir las tasas de diagnósticos erróneos, un problema grave en el mundo de las enfermedades raras. 

Los diferentes tipos de asesoramiento genitico

  • prenatal asesoramiento genitico

prenatal asesoramiento genitico supports parents to be, when faced with the possibility of rare disease diagnosis in their as yet unknown child, or embryo in the case of preimplantation testing for IVF. This type of genetic consultation helps parents understand the chances of their child being born with a rare disease, and the potential symptoms they might be born with as a result of this. They help parents to understand the options for further testing, where necessary or available, and help parents understand all of the options available to them. Prenatal genetic counseling might also be used by parents, who have already received a rare disease diagnosis for an earlier child, and are looking to understand how they can prevent the inheritance of the same condition, where possible, and dependent on its mode of inheritance. 

  • Pediátrico Asesoramiento Genitico

Pediatric genetic counseling is an essential service for the parents of children facing, or with a rare disease diagnosis. Genetic testing, and diagnosis, can be a very difficult process for parents to go through, and pediatric genetic counselors provide essential support for them along the way. Pediatric genetic counselors are especially important in helping families adjust to changes in their lives brought about by a rare disease diagnosis, and they help plan short, medium, and long term care plans for children affected by a rare disease. They also help families coordinate care plans and promote cooperation amongst medical professionals responsible for their child’s care. Usually parents will find their way to pediatric genetic counseling services following concerns about a congenital defect, developmental delay, or concerns raised by genetic screening in a newborn results. 

  • Asesoramiento sobre genética del cáncer

Cancer genetics counseling helps patients as a part of their journey on their way to the diagnosis of a rare cancer. As with all rare diseases, information, support and guidance are critical when it comes to rare cancers. This type of specialized counseling can help individuals to understand more about the causes, and potential symptoms of their type of cancer. 

  • General asesoramiento genitico

General genetic counseling is a service offered to children, teenagers and adults facing a rare disease diagnosis. It is an incredibly valuable service and provides support, information awareness, and expert advice, both pre and post genetic analysis and                testing. 

tipos de asesoramiento genitico

El rostro cambiante de asesoramiento genitico

Acceso al tipo correcto de asesoramiento genitico es fundamental para garantizar que las personas con enfermedades raras y sus familias reciban no solo el apoyo adecuado, sino también el diagnóstico adecuado. Sin embargo, para muchas familias, el acceso a los asesores genéticos y, en particular, a los asesores genéticos especializados, no está garantizado según el lugar donde vivan. Para algunas familias, acceder asesoramiento genitico en absoluto, y mucho menos el tipo correcto de asesoramiento genitico para sus necesidades, es complejo y difícil. 

Una mayor conciencia de los problemas y obstáculos que enfrentan las familias en términos de accesibilidad a asesoramiento genitico ha llevado, en los últimos años, al desarrollo de asesoramiento genitico servicios.

Esto significa asesoramiento genitico realizado virtualmente. Todo lo que requiere es un dispositivo conectado, con video. Esta solución accesible y fácil de usar está conectando a los asesores genéticos y las familias, desde la comodidad de su propio hogar. Es fundamental poner a disposición de las personas que lo necesiten todo tipo de asesores genéticos, y los especialistas que lo dirigen, sin las barreras de accesibilidad que existen desde hace mucho tiempo. 

 

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