What is Genetic Consultation?

We understand more about genetic consultation, why it is so important, and it’s role in improving rare disease diagnosis.


Genetic consultation is essentially a meeting between an individual who is at risk for, or has, a rare disease and a genetic counselor, or genetic expert. If the patient involved is a child, then genetic consultation will also involve their parents. 

Genetic consultation can take place before any genetic testing or screening has taken place, or it can happen after genetic analysis has been completed, and may have identified a rare disease, or a higher risk of developing a genetic syndrome.

Generally genetic consultation does not usually involve just one meeting, it will involve a series of meetings and appointments that will walk individuals through a possible or confirmed rare disease diagnosis. 

genetic consultation

When might an individual be referred for genetic consultation?

  • Before prenatal genetic testing, even if there is no family history of a rare disease. Genetic consultation can help parents-to-be understand and explore the prenatal genetic tests currently available, what each test entails, possible results and how to handle these results. 
  • Before prenatal genetic testing, if there is a family history of a rare disease. As well as helping parents navigate the different genetic testing options, genetic consultation can help them understand which genetic tests are recommended based on their family history. Genetic consultation will also inform parents-to-be about the risks for the unborn child or future children, based on the mode of inheritance of the rare disease present in the family. This is critical information for parents, in order to allow them to make the best decisions in terms of the long term health of their unborn child, as it may have a significant impact on how parents in this situation choose to proceed with how a child is conceived, for example. 
  • If prenatal genetic screening and/or testing identifies a potential symptom of a rare disease in a child, or identifies a genetic mutation. In either of these situations genetic consultation will be necessary in order to help parents-to-be understand the implications of the testing results, the risks involved for their unborn child, and what steps they can take in order to ensure the best outcome for their child and their family. Genetic consultation should arm parents with as much information as possible about the potential rare disease diagnosis, possible symptoms and medical issues for a child born with such a condition, and potential treatment options, if any. 
  • If a newborn or infant displays symptoms of a rare disease. Genetic consultation may be recommended to understand the child’s symptoms better, and in more detail, and to explore if there is a valid link with a rare disease. Options for genetic analysis and testing will be presented to the parents, who will need to make a decision with how to proceed. 
  • If newborn or infant screening tests identify possible rare disease symptoms or causes, including changes to the genes or chromosomes. In this situation genetic consultation will be essential in helping parents navigate the genetic testing options available for their child, and in order to help them understand how this might lead to a confirmed diagnosis, or to ruling out a rare disease in their child. 
  • If a child or teenager develops a set of symptoms that might have a rare disease as their cause. Some symptoms of rare disease develop later in life, and may not be present at all, or present to any obvious extent, until later in childhood or even, in some instances, in adulthood. Any suggestion of symptoms relating to a rare disease are likely to lead to a referral for genetic consultation. 
  • If a family member receives a diagnosis of a rare disease. This might be an immediate or extended family member. This diagnosis may lead to other members of the family requesting or being referred for genetic consultation, in order to enable them to better understand their own risks for developing the same syndrome. 

genetic consultation

Who conduct genetic consultation?

Genetic consultation is usually led by a genetic counselor. This might be a pediatric genetic counselor, or a genetic counselor specialising in cancer and rare diseases, or it might be a general genetic counselor.

In some medical settings, some nurses, doctors and other healthcare professionals, may also have a background in genetic counseling and may be able to offer genetic consultation for patients. 

Why is genetic consultation so important?

Genetic consultation is a crucial part of the diagnostic journey for the following reasons:

  • It provides essential emotional support for rare disease patients and their families
  • It makes sense of medical jargon and language for families facing a rare disease diagnosis, as well as of complicated genetic concepts
  • It brings together all of the professionals involved in the care of a rare disease patient and makes sure they communicate and cooperate in terms of the complete care of the patient
  • It explores and explains the different genetic analysis, testing and diagnosis options
  • It provides crucial information on rare diseases, including their symptoms and causes
  • It recommends possible treatment options for specific rare disease, where available

What are the obstacles to genetic consultation?

There are currently several main obstacles to accessing genetic consultation, with accessibility and availability of this key service, being the main ones. 

However recent advancements in technology have led to the development of online genetic consultation solutions, which connect rare disease patients with genetic counselors for genetic counseling online. This development is expected to have a positive impact on the management of care for rare disease patients.

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