What is Genetic Screening?

What can it tell us?

Genetic screening involves testing to identify changes in an individual’s genetic makeup. This might be identifying a gene or chromosomal change that might cause a rare disease, or a gene change that might make them the carrier. 

It aims to help an individual understand more about their own genetic health, and what this might be for their own future health, and the health of their future children. It aims to identify an individual’s potential or possible risk for developing a rare disease, or it may confirm the presence of a rare disease. 

It may involve sampling a person’s blood, skin, hair, amniotic fluid or other body tissue, in order to screen their DNA for changes that might indicate an increased risk for a rare disease. 

what is genetic screening

What are the benefits of genetic screening?

Genetic screening is beneficial to those individuals deemed at risk for developing a rare disease, and for understanding more about their own health status. In the example of carrier screening, it can also help parents-to-be plan healthier pregnancies and mitigate the risk of their children developing a rare disease or risk for one. 

The main benefits

  1. Empowering a patient with awareness about their own genetic health and understanding how they can plan for future medical or health issues based on this knowledge.
  2. Ensuring targeted access to more advanced genetic testing options in order to diagnose a rare disease, based on the results from genetic screening.
  3. Preventing the inheritance of specific genetic mutations which might cause rare disease in future children, and helping carriers plan healthy pregnancies.

Genetic screening challenges


Genetic screening is not a diagnostic process. It can identify the need for further testing, and identify potential risk for a rare disease, but it is not accurate at diagnosing one. Sometimes it’s accuracy is overestimated, and this can cause confusion and worry. However when combined with genetic counseling services, it can be an important first step in reaching a diagnosis, and in ensuring a correct and timely diagnosis. 


Not everyone has genetic screening options close to them. It can involve a great deal of travelling, and logistical challenges, all of which can hinder access. Moving genetic screening and counseling online, where possible, is going a long way towards improving accessibility to all rare disease patients and their families. 


A lack of awareness about genetic screening, the options for genetic testing and the support available through genetic counseling services, creates challenges in ensuring patients have access to the right testing options and guidance throughout the testing process.

Awareness about genetic syndromes in general is very low and this in turn is a large hindrance when it comes to improving accessibility for those who need it. 

Lack of support

Genetic screening can be a difficult process. It can be long, and frustrating, and depending on its results, be very challenging for all those involved. It often raises more questions than it answers, and ensuring people receive the right support through the process is crucial to not only emotionally supporting patients, but also crucial in ensuring they receive the right support for whatever risk of or rare disease they might be facing. 

Genetic screening and genetic counseling

Genetic screening without genetic counseling can be challenging. This is because genetic screening rarely gives definitive, concrete and conclusive results. Generally genetic screening reveals when further, more targeted genetic testing might be required. So without a genetic counselor to explain screening results and risks to a patient, it can generate a lot of stress about an individual’s genetic and medical health, and their next steps. 

Based on results, genetic counselors are able to recommend further genetic testing options, in order to narrow down and confirm a diagnosis. They are able to recommend specific tests, for a more accurate final diagnosis, and explain the process of each test, and the meaning of their results. 

Genetic counselors make sense of and translate the medical language surrounding genetic screening and testing. They are able to fully make sense of genetic screening results. They are able to advise on the next steps depending on the results. 

As importantly they are also able to provide the emotional support patients need to see them through the genetic screening and testing process. 


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