Online genetic counseling, and how it is transforming genetic diagnosis for rare diseases.
What is genetic counseling?
Answering important genetic counseling questions
Genetic counseling is important for families with a history of rare diseases or inheritance. It is also increasingly important for parents-to-be as the development of more advanced, and more widely available prenatal genetic tests, increase the awareness of rare diseases and the possibility of a diagnosis. A concern about a screening or test result will generally lead families to a genetic counselor either before or after their child is born.
Genetic counseling is conducted by a genetic counselor, and their role is multifaceted. They are a part of the diagnostic process- meaning they collect information about the patient’s medical and family history, to help make a decision about which genetic testing might be recommended in terms of moving forward with a diagnosis.
But they also play a very important role in terms of education and awareness, and in terms of support. They guide patients and their families through the process of being diagnosed with rare diseases or genetic syndrome, they explain the potential symptoms and features of specific diseases, and what it means to manage life with one.
They help connect patients to support groups, and networks of support. They might suggest treatment and care options as well and can coordinate the different medical professionals involved in the support and care of a rare disease patient.
The roles of a genetic counselor are wide ranging, varied and of equal importance. There are also different types of genetic counseling – including pediatric genetics counselors, and other specialties.
Genetic counselors can help patients make sense of what can be a huge amount of overwhelming medical information. They can translate medical terms and recommendations in a way that provides clear and comprehensive answers for rare disease patients and their families.
The role of genetic counseling in the diagnosis process of a rare disease is incredibly significant. It is an unmissable step, and one that must be accessible to all individuals facing a rare disease diagnosis.
What is online genetic counseling?
In recent years advancements in technology, within our increasingly connected world, have led to the development of online genetic counseling services.
These services connect patients and genetic counselors through online platforms, allowing them to meet virtually. All either side requires is a connected device, with video capabilities.
The benefits
Ease of Use
Online genetic counseling is easy to use. It can be done from a phone, a computer, or a tablet. The device used just needs to have a good internet connection and a camera for video. It is easy to set up and experience as any video call is.
Accessibility
The greatest obstacle to the provision of genetic counseling services has long been accessibility. Thousands of rare disease patients live in remote, rural or underdeveloped areas without genetic counselors nearby. This means they have faced long journey times to connect with genetic counselors, or faced doing without the service. This has also prevented many from being able to commit to regular genetic counseling sessions.
Even in developed urban centres and countries, access to genetic counselors can be hindered due to long waiting lists. However online genetic counseling frees rare disease patients from having to book genetic counseling services that are closest to them. The ability to connect virtually allows patients to access a network of specialists from all over the world. This in turn imposes accessibility and availability of what is a vital service for rare disease families.
Improved care
Being able to access genetic counseling services online, allows rare disease patients to undergo what can be a very difficult and taxing process (both mentally and emotionally) from the comfort of their own home. For many individuals this is important. It is especially important for families with young children, or multiple children, and scheduling constraints make traveling for genetic counseling sessions especially difficult.
The future
The future of online genetic counseling will undoubtedly see its expansion. What is currently available via a few online platforms, is expected to become increasingly more popular as the ease of its use, and benefits become better known.
As online genetic counseling reaches more people, its popularity is likely to increase, benefiting both patients and genetic counselors, as they will be able to reach more patients.
Genetic counseling is a critically important process for rare disease patients and their families. Making it more accessible, and accessible in a way that helps patients, is significant to everyone involved in the rare disease field.
One-on-one sessions with a genetic expert can help families get the help they need in detecting and navigating certain rare syndromes including Noonan syndrome and others.
