Who is Genetic Counseling Recommended for?

Genetic counseling is recommended for anyone who needs to undergo genetic screening. 

Genetic counseling is an important part of the diagnostic process, and offers crucial support for patients and their families.

Who is genetic counseling recommended for?

Individuals, and couples undergoing carrier screening

It is important for genetic counseling to be a part of the carrier screening process. People must understand the testing they are undergoing, what it can discover, and what the consequences and implication of these results could be. Parents who are carriers of specific genetic mutations may have to make difficult decisions about how they start a family- and will need to consider a number of different factors and options when considering the health of their future children. Genetic counseling is recommended to help these individuals understand the choices they may need to make, and what their own genetic health can mean for their children. 

Pregnant women 

Are recommended to undergo genetic counseling before, and after undergoing prenatal genetic testing. This can include before non-invasive tests, that require just a blood sample, and before more invasive tests, such as amniocentesis.

Individuals with a family history of rare disease

It is very important for individuals with a history of rare disease in their family, to undergo genetic counseling, in order to understand their own potential risk of being either carriers, or of developing a rare disease themselves. 

Individuals with a family history of symptoms of a rare disease

Individuals who discovered a pattern of symptoms within their family, should consider genetic counseling, to better understand if these unique symptoms warrant further investigation to find a genetic cause. 

Anyone who has had genetic screening, and is identified an increased risk for developing a rare disease, or confirmed the diagnosis of a rare disease 

For individuals who are considered high risk for developing a rare disease, for whatever reason, should undergo genetic counseling in order to better understand what this risk means for both their current and future health. They should also understand what it means for their future children. 

For individuals who have a confirmed diagnosis of a genetic syndrome, genetic counseling is essential in helping them to manage both the short and long term care of their condition. It can also connect those who need it to support networks and groups for those living with a rare disease. 

Rare disease patients, and their families

Genetic counseling is an important part of the diagnosis process, but the support it provides should not necessarily stop with a diagnosis. It can play a vital role in helping rare disease patients, and their family, come to terms with their diagnosis, and to understand what it means to live life with a specific crate disease. Genetic counseling is important in managing treatment for a rare disease, and in helping to set up the care that will ensure effective long term management of the condition and its related symptoms. 

Anyone with symptoms that might be possible features of a rare disease, or symptoms that have no current known cause. 

Unexplainable symptoms, or a unique set of symptoms, might lead to a referral for genetic counseling, in order to confirm or rule out a genetic cause. Genetic counseling, in this instance, can guide potential patients through the genetic testing options, and the possible results, based on their relevant symptoms.

Why is it recommended?

Genetic counseling: what to expect

  • It provides essential therapy, counseling, and support for anyone undergoing the rare disease diagnosis process.
  • It provides important information and awareness on genetic testing, and rare disease causes and symptoms. 
  • It provides recommendations for genetic testing options, and potential treatments for symptoms. 
  • It translates medical terms and jargon for patients, to better understand their symptoms, options for genetic testing, and anything related to the genetic diagnosis process.
  • It coordinates the diagnosis process, and subsequent treatment options, for rare disease patients. This means continuity of care for patients, and empowers them in their decision making as well. 

Genetic counseling is recommended for anyone facing genetic testing, screening, and analysis. It is not simply a single stage in the process, but essential support that accompanies rare disease patients and their families every step of the way towards a diagnosis, and beyond. 



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