Genetic Counseling Services

What ?

Genetic counseling services are an integral and important part of the genetic screening, testing and diagnosis process. 

Anyone who is about to embark on a process involving genetic screening, analysis and testing should be referred to genetic counseling services. 

Crucial services

Genetic counseling services offer a number of crucial services including:

Information and knowledge about rare diseases, including their possible causes and symptoms. Genetic counseling is also able to translate and explain complex medical terms and concepts to patients in a way that empowers them with information. 

Understanding an individual’s family medical history, their current medical history and potential symptoms, within the context of a possible rare disease diagnosis. 

Recommending specific genetic testing options, based on a patient’s individual and family medical and genetic health, in order to achieve a more accurate diagnosis. 

Emotional support for patients and families navigating genetic testing, and a possible diagnosis of a genetic syndrome.

Coordination of medical teams and care for a diagnosed rare disease patient and their family. 

Why are genetic counseling services so important?

Genetic counseling services are important for a number of key reasons.

They improve the accuracy of a diagnosis

The more genetic counselors know about a patient, and their family’s genetic and medical health, the more specific their recommendation for genetic testing can be. The more targeted genetic testing is, as a result of this, the more accurate a diagnosis becomes. 

Genetic counseling services involve genetic counselors, who are genetic experts. They are able to connect a patient’s symptoms with a possible rare disease, and understand which testing to recommend to confirm this. 

They provide much needed emotional support

Genetic screening and testing is not an easy process. It can be emotionally difficult and fraught with stress. Even if testing reveals that an individual does not have a genetic syndrome, the process itself is worrying and challenging.

For patients and their families who do receive a confirmed diagnosis of a rare disease, the process is even more difficult. Genetic counseling services help families handle news of a diagnosis, and help them plan their next steps with expert advice and support, both emotional and medical.

They can plan the next steps

For patients or families for whom genetic screening revealed a higher risk of an individual developing a rare disease, genetic counseling services can help them understand their options moving forward. They may want to explore further, more accurate genetic testing options, they may want to understand what a diagnosis may mean for an individual and their quality of life.

Genetic counseling can walk patients and their families through all of this. 

For patients or families who received a confirmed diagnosis, genetic counseling services are able to help them plan and manage long term care options, including support and treatment. 

Genetic counseling can also help parents plan future pregnancies based on a diagnosis in a child, or from carrier screening. 

Improving access

Improving access to genetic counseling services is critical to improving the quality of genetic testing and diagnosis, and its accuracy. It is important to prevent wrong diagnosis and misdiagnosis in rare disease patients. Essentially it is important in ensuring anyone navigating genetic screening and testing, receives the specialist and expert help and support they need. 

The most effective way to improve access  is to move the services online. Online genetic counseling removes most of the barriers to accessing genetic counseling that plagues in-person appointments. 

With virtual genetic counseling individuals who require its services can access it from the comfort of their own home, from any connected, video-able device. This removes any location and geographical constraints, and connects patients and counselors directly.

It also connects those who need its services to a global network of counselors and genetic experts, enabling access within hours if needed. This is instrumental in empowering individuals to take more control over their own diagnosis and genetic health, both present and future. 


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