Who is a genetic counselor?
A genetic counselor is a medical professional, with extensive genetic expertise, who can support and help families facing a rare disease diagnosis. Genetic counselors provide a mixture of services and support, from emotional support to medical knowledge to recommendations for specific genetic tests.
Why genetic counseling?
There are many reasons why a family might be referred to a genetic counselor. Sometimes it may be because of a suspected rare disease in a family member, or it may be because a family member has been identified as high risk for developing a rare disease.
Anyone undergoing genetic screening or testing, for any reason, should be referred to a genetic counselor both at the start of the process, and throughout it as well.
The 5 things a genetic counselor does for a family
The main roles of a genetic counselor are –
- Provides information about genetic diseases
Genetic counselors are able to help families understand better about specific rare diseases, including what causes them, and their unique symptoms. The more information families have, and the better they understand specific rare diseases in terms of their diagnosis, or potential diagnosis, the more empowered they are as patients or as the parents of a patient.
While there is still much that is not understood about the genetic causes and presentation of many rare diseases, especially those with low prevalence rates, genetic counselors can enlighten families as much as they can as they begin to seek a rare disease diagnosis.
2. Collects information from the family, to ensure a more accurate diagnosis
For rare disease patients to receive an accurate diagnosis, genetic counselors play an important role in collecting and understanding a patient’s family’s medical history, including any incidences of rare disease or symptoms that might suggest the occurrence of a rare disease.
Genetic counselors will also explore, in-depth, any symptoms a patient may have, and understand how these may be related to a rare disease.
There is no one single genetic test to identify rare diseases, understanding which syndrome to test for, requires an intensive understanding of a patient’s family and personal medical history.
3. Offers emotional support throughout the entire diagnosis process
The process of genetic diagnosis, screening, and testing can be a difficult one for many families. Even if eventually a rare disease is ruled out, and even more so if at the end of the process a rare disease is diagnosed. The diagnosis process can be long, and challenging, and genetic counselors offer important support both medical, genetic, and emotional along the way.
Genetic counselors offer emotional support for families navigating genetic testing, and its results, and for those facing long-term care of a family member with a rare disease. Deciding to undergo genetic testing is not an easy process, and genetic counselors play an important role in supporting families through it.
They will also help connect families to support groups and networks, allowing them to connect with other families with the same or similar diagnosis.
4. Makes recommendations for genetic testing, and helps families understand the process of testing and the results
Genetic counselors play an important role in helping families decide which genetic testing to undergo, based on a patient’s symptoms and family history. They can also help families, who have received inconclusive or unclear testing results understand what is the next step for reaching a more conclusive diagnosis.
Genetic counselors also help families understand the process of genetic testing, what it entails, and what the results might reveal. Preparing families for the different case scenarios following genetic testing is an important role of a genetic counselor.
5. Coordinates treatment and long-term care for a rare disease patient
Genetic counselors help families, not only during the diagnosis process but also once families have received a diagnosis as well. This help consists mainly of coordinating the different medical teams and professionals responsible for a rare disease patient’s care, both in the short and long term.
How do we improve access to genetic counselors?
Access to genetic counselors is crucial for all rare disease families, regardless of where they are in the diagnosis process, and regardless of whether their need for a genetic counselor involves a single meeting or a series of meetings.
Recent developments in health and genetics are allowing genetic counseling to move online. This means that families and genetic counselors are connecting more easily than ever before, and the potential to improve the accuracy of rare disease diagnosis is improving as the popularity of online genetic counseling grows. It also means families can connect to the different types of genetic counseling, including the various specialties.
Genetic counselors can provide the assistance you and your family need to navigate and identify rare genetic syndromes including Lionitis syndrome and others.
Parents can also utilize a child development checker for an initial assessment of any developmental concerns they may have about their child. This AI tool empowers parents to connect with an expert who can further evaluate the situation. Together, these resources provide a comprehensive approach to ensuring your child’s developmental milestones are met and their overall well-being is supported.
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