Genetic Counseling – What to Expect

Genetic counseling is an essential support service for those navigating a rare disease diagnosis.

What can I expect from genetic counseling?

You can expect that genetic counseling, in general, will be an important support tool as you navigate a rare disease diagnosis. Finding the right genetic counselor, for consistent and quality support and care, is crucial to the entire diagnostic process, and it helps to ensure an accurate diagnosis as well.

Emotional support

Navigating a diagnostic journey is a very difficult process for everyone involved- both for the patient, and their caregivers. You can expect genetic counseling to provide emotional support throughout this journey, and to connect you to support groups, and support networks, who can help put you in touch with families who have already been through the same diagnostic journey, and who are living with a rare disease. You can expect genetic counseling to be more than just a single step on the road to a diagnosis- it is a support service that will accompany you from initial screening, right through to diagnosis, and beyond. 

Knowledge and information

You should expect genetic counseling to educate you on the following:

• The genetic diagnosis process and what it entails from the first counseling session to the final diagnosis.
• Genetic testing options, and their possible outcomes, as well as what genetic tests are right for you and your family or child.
• The rare diseases you might be facing, including their causes and symptoms, and how to manage the lifelong care of someone with a specific genetic syndrome.
• The causes of genetic syndromes, the risks involved for some families based on the parent’s genetic health, and how to ensure healthy pregnancies in the future.

But you should also expect your genetic counselor to take the following information:

• A full family medical history, non-genetic medical conditions, and health issues included
• If there are any incidences of rare disease in your immediate or extended family
• If either parent is a carrier for a mutated gene or genetic syndrome
• The exact symptoms you or your child are experiencing, the age at which they presented, how long they have been present, and their severity
• If you or your child has undergone any genetic screening or analysis in the past, and what, if any, the results from this testing were

Translation and explanations

You should expect your genetic counselor to make sense of all of the medical jargon and terms surrounding rare diseases and genetic testing. They will be able to answer questions you may have about what certain terms mean, and they will act as a bridge between you and the complexities of the medical world. 

Continuity of care

Genetic counseling plays an important role in ensuring continuity of care for rare disease patients. This means you can expect your genetic counselor to arrange the cooperation and coordination between all of the medical teams and professionals, involved in the diagnosis and care of your rare disease child or family member. This is very important in making sure that the different professionals are communicating with each other, and understand what are the best testing and care options for them. This in turn will improve the chances of a more accurate diagnosis as well. 

Genetic testing recommendations

You can expect your genetic counseling to explain all of the different types of genetic testing available. They will also be able to advise you, more specifically, on which genetic tests will be right for you, as a patient, or for your child- these recommendations will be made based on results from initial screening tests, possible symptoms, and if there is a family history of specific rare diseases. A genetic counselor can interpret all of this information, and suggest the right tests, for a more accurate diagnosis. 

Possible treatment recommendations

Once you receive a confirmed diagnosis, you can expect genetic counseling services to also be able to suggest potential areas of treatment, where necessary, and if possible. This is part of the expectation you should have that genetic counseling is a process and one that will accompany you even behind a confirmed diagnosis, in terms of offering support and information. 

Genetic Counseling: what to expect

You should expect:

• Support– this includes emotional support, support with medical teams and professionals, support with making decisions about genetic testing options, and support with understanding rare diseases, and a potential diagnosis of a rare disease. 
• Accuracy– the more accurate your genetic counseling services and recommendations, the better your chances of receiving the right diagnosis, the first time. 
• Timely help– you should expect fast access to a genetic counselor, regardless of where you live in the world. 
• Consistency of care– this means regular appointments with your genetic counselor, to guide and support you through the diagnostic process. 

Genetic counseling: what to expect in the future

There is a lot to expect from genetic counseling over the next few years. The development of online genetic counseling services is an exciting and transformative development, for rare diseases patients and genetic counselors alike. This new development should increase and improve accessibility to crucial counseling services, for more patients and their families, and make the entire process much more accurate and accessible too. 

Enhance your child’s health journey with the Child Development Checker app. This tool assesses developmental and genetic concerns, providing early and accurate insights for timely interventions. The “Connect to an Expert” feature offers access to experienced genetic professionals for personalized support.