We Answer Your Genetic Counseling Questions

We answer some of the most commonly asked questions about genetic counseling.

What is Genetic counseling?

Genetic counseling is an important part of the genetic diagnosis and testing process. It provides crucial support, and information, for patients facing a rare disease diagnosis. Genetic counseling is more than just a single step in the diagnosis process, it is the support that should accompany patients and their families through every single step of their diagnostic journey. 

It is also very important to ensure that patients access the right genetic testing, to receive an accurate diagnosis. Early access to genetic counseling can improve diagnosis rates for all rare disease patients, and maximize the effectiveness of early intervention and care.

How do I know if I need genetic counseling?

Genetic counseling is usually recommended in the following situations:

• If you have a family history of a rare disease or associated medical conditions
• If you, and/or your partner are the carrier of a gene or chromosomal gene, which might cause a rare disease in either yourself or any future children
• If you and/or your partner want to understand if you are carriers for gene mutations, which might trigger a rare disease in either yourself or any future children
• If you, or a family member, have symptoms that might be caused by a rare disease; or which have no other identifiable cause
• If initial screening genetic testing reveals potential risk for or signs of a rare disease
• Before embarking on any type of genetic testing, including prenatal tests commonly offered during pregnancy

Who conducts genetic counseling?

Genetic counseling is led by a genetic counselor. Genetic counselors are healthcare professionals, whose expertise and experience is in both genetics and counseling. 

In some instances, genetic counseling might be led by a doctor or nurse with a genetic background. 

Genetic counselors offer not only medical support and advice but crucial emotional support as well. They are both medical professionals and therapists. 

What can genetic counseling tell me?

Genetic counseling can not confirm a diagnosis of a rare disease. But what it can do is advise and make recommendations, that will help a patient reach a more accurate diagnosis, faster.

It is about guiding patients and their families through the genetic diagnosis and testing process, and supporting, them rather than telling or direct. 

Its role is to empower patients and provide them with choices for testing and rare disease management, that ensure they receive the best care for their diagnosis.

What does genetic counseling involve?

Genetic counseling what to expect

Genetic testing will usually involve the following:

• The genetic counselor will record your family history, including all medical conditions and issues, regardless of whether they have a known genetic cause or not
• The counselor will ask about any related symptoms or medical conditions, that might be relevant to a diagnosis
• Investigation into whether anyone in the family is a known carrier of a gene change or mutation
• Providing information on the types and potential results of genetic testing, as well as the causes and symptoms of relevant rare diseases
• Recommendations for which genetic tests to undergo
• Recommendations for solutions to manage life with rare disease
• Coordinating medical care between teams and different professionals
• Emotional counseling and support, as patients and their families process a rare disease diagnosis

Are there different types of genetic counseling

General genetic counseling services are by far still the most widely available. However, some genetic counselors specialize in more specific areas, to provide more targeted care. 

These areas include:

• Prenatal genetic counseling (this is for before and during pregnancy)
• Pediatric genetic counseling (this is for children and teenagers)
• Genetic counseling for cancer (this is specific to those with a genetic risk for cancer and cancer as a symptom of a rare disease)
• General genetic counseling (for anyone who needs genetic counseling services)

How can I find a genetic counselor

Generally, you should be able to find recommendations for a genetic counselor from your primary doctor, or in the case of children, their pediatrician. 

Finding a trusted genetic counselor, with availability, in your local area is not necessarily an easy process. Currently, there are far too many obstacles to accessing genetic counseling, for many people.

One option is to choose online genetic counseling. This means virtual genetic counseling, through a health platform. This has many advantages, including counseling from the comfort of your own home, and almost instant access to this crucial support.

What can I do if I can’t find a genetic counselor near me?

Don’t despair. With the development of online counseling, there are now more ways to access this crucial service, even if you are unable to find one near you. 

Genetic counseling is a crucial part of the genetic diagnosis process. Understanding the process, and how it can support you as a rare disease patient, or as a parent of a rare disease patient, is important in ensuring you receive an accurate diagnosis, and continued support. 

In addition to online genetic counseling, parents can use the Child Development Checker app to assess their child’s developmental and genetic concerns. This app leverages advanced genetic analysis to provide early and accurate insights, essential for timely interventions. The “Connect to an Expert” feature offers personalized support from experienced genetic professionals, ensuring comprehensive care.