Genetic counselors have many roles and are instrumental in helping individuals reach an accurate diagnosis of a genetic syndrome.
Genetic counseling 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.
The different types of genetic counseling
Genetic counseling what to expect: Due to different types and purposes of genetic testing, 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.
The diagnosis of a rare disease can be a complicated process. Accessing the right type of genetic counseling, for the type of rare disease being investigated, is critical to the entire process of reaching a diagnosis.
Accessing the right type of genetic counseling can also help with reducing the rates of misdiagnosis, a serious issue within the rare disease world.
The different types of genetic counseling
- Prenatal genetic counseling
Prenatal genetic counseling supports parents-to-be when faced with the possibility of a 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 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.
- Pediatric genetic counseling
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 newborn results.
- Cancer genetics counseling
Cancer genetics counseling helps patients as 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 genetic counseling
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.
The changing face of genetic counseling
Access to the right type of genetic counseling is crucial in making sure rare disease individuals and their families receive, not only the right support but also the right diagnosis too. However, for many families, access to genetic counselors, and in particular, specialized genetic counselors, is not guaranteed depending on where they live. For some families, accessing genetic counseling at all, let alone the right type of genetic counseling for their needs is complex and difficult.
A growing awareness of the problems and obstacles families face in terms of accessibility to genetic counseling has led, in recent years, to the development of online genetic counseling services.
This means genetic counseling is conducted virtually. All it requires is a connected device, with video. This easy-to-use, accessible solution connects genetic counselors and families, from the comfort of their own home. Crucially it is making all types of genetic counselors, and the specialists who lead it, available to the people who need it, without the barriers to accessibility that have long existed.
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