What is genetic counseling

1. What is genetic counseling? Genetic counseling is an integral part of the genetic diagnosis process. For many rare disease individuals and families, it is the first step on their journey to a diagnosis, but genetic counseling is also a process and crucial service within its own right, which accompanies rare disease patients throughout their entire diagnostic journey, and beyond. Who leads genetic counseling? Genetic counseling is led by trained genetic counselors. They are genetic experts, with a medical background, but they are also counselors and are able to offer important emotional support to those facing a rare disease diagnosis. Genetic counselors are a bridge between the medical world, and rare disease patients. They explain, make sense of, and translate medical information for rare disease families. They also bring together all the areas of a diagnosis, and management of a rare disease, under one essential service. What are the main services provided by genetic counseling? ● Information and knowledge about genetic syndromes, including their causes and symptoms. Recommendations for the right genetic testing for each individual, depending on their need, and symptoms, if any. Comprehensive information on what each genetic test will entail, what the potential results might be, and what this might mean for each individual in terms of living with a rare disease. Recommendations for treatment options, and the long term management of a rare disease. Emotional support for patients and families who receive a genetic syndrome diagnosis. A confirmed diagnosis of a rare disease can be difficult to come to terms with, for many families, and genetic counselors are there to guide them through it emotionally. They also connect individuals and families to rare disease support groups and networks which provide much needed support. ● ● ● ● ● What are the main obstacles to genetic counseling? ● Location: not everyone has genetic counseling services in their local area. Many families face long journey times to access these crucial services, and this can be difficult

2. to organize and schedule for many families. Specialist genetic counselors, for pediatric genetics, for example, are even harder to find outside or large urban centers. This means a lack of services for those in remote or rural areas. Availability: with an increased awareness about rare disease, and the different genetic tests available, demand for genetic counselors is higher than ever before. This puts pressure on availability, and many families can face a long wait to access genetic counseling. This in turn can delay the entire diagnostic process, or leave families facing a diagnosis alone. ● How do we improve access to genetic counseling? Improving access to genetic counseling is vitally important, if we are to ensure that all rare disease families receive the crucial support they need as they navigate the diagnostic process. Genetic counseling should support a family throughout the entirety of the process, from start to finish, and even beyond, and making this happen means a commitment to improving access to these services. In recent years, this has led to the development of platforms for online genetic counseling. This allows rare disease patients and their families to connect with a genetic expert online, from the comfort of their own home. The benefits of online genetic counseling? ● ● Ease of use: all you need is a connected device with video capabilities. Fast access to global experts: online genetic counseling platforms, like that developed by FDNA Telehealth, are able to connect rare disease families to a global network of genetic counselors and geneticists. This reduces wait times, and means almost immediate access to genetic counseling services. Eliminates location obstacles: online genetic counseling can be accessed from the comfort of home, removing location obstacles and long journey times. This makes it easier to prioritize it within a family’s schedule as well. ● The goal of online genetic counseling is to provide crucial services to rare disease patients, as quickly as possible. This in turn leads to a more accurate genetic diagnosis.