What is genetic counselor?
- Author Louisa Bryan
- Published April 23, 2021
- Word count 771
What is a genetic counselor?
We explore the role, and importance of a genetic counselor in the diagnosing of a rare disease. We also highlight their crucial role in supporting rare disease families through a diagnosis and beyond.
What are the main roles of a genetic counselor?
A genetic counselor is a genetic expert, with medical training, who is also able to counsel and emotionally support rare disease families during their diagnostic journey. Theirs is an unique role, in that they bridge the medical and non-medical words, and support both medical teams and rare disease patients and families.
The main roles of a genetic counselor include:
● Providing information and knowledge about the causes and symptoms of rare diseases. There are over 7,000 rare diseases, and most people’s understanding of them is limited. Even many doctors, who do not have a background or training in genetics, have limited knowledge about many of these rare diseases. Genetic counselors however know and understand rare diseases, and are able to explain this understanding to patients and families facing a rare disease or genetic diagnosis.
● Recommending genetic testing, based on the needs of an individual or family. Genetic counselors are able to understand which specific type of testing is right for each individual. Whether it’s carrier screening for parents-to-be, or amniocentesis for a pregnant mother, genetic counselors are able to explain the process of each test, if there are any risks involved, and what the possible results of the test might be.
● Explaining the results from genetic testing, and what they might be in the context of a rare disease diagnosis. If they confirm a rare disease, what are the options for the patient in terms of potential treatments and long term care management. If the results are inconclusive, a genetic counselor can recommend further testing and screening.
● Providing emotional support. For some families the rare disease diagnosis process can be a long, stressful and frustrating one. The role of genetic counselors is to accompany patients throughout the entire process, providing emotional support the entire time. Genetic counselors are therapists also, and will also connect rare disease families with support groups and networks of support for during and after a diagnosis of a rare disease.
● Coordinating all of the medical professionals, and teams, involved in diagnosing and caring for a rare disease patient. This can mean bringing together a team of genetic experts in order to receive a diagnosis, but also following a diagnosis, it can mean, bringing together a multidisciplinary team of medical specialists. Many rare diseases present with multiple symptoms, which can affect multiple parts of the body. For some patients their care needs are complicated, and involved in different medical teams. Genetic counselors can help ensure continuity and consistency of care. This is especially important for patients with multiple health and medical issues.
● Genetic counselors are also able to help translate medical information, diagnosis, and other important knowledge received from medical teams and genetic experts, to patients. The world of genetics is a complicated one, and genetic counselors play a crucial role in helping families understand it a little better.
Finding a genetic counselor
Finding a genetic counselor can be tricky, depending on where a patient lives. For those living in remote, rural areas, it can be even more difficult. Access to genetic experts is a challenge in a field where awareness and support are key.
Many rare disease families face long journey times to reach a genetic counselor, and often long wait times for an appointment too. This can delay access to what is an essential service for many families, and this delay can slow down the entire diagnostic process, leaving families stranded in a diagnostic odyssey.
Genetic counselors available online
In response to many of the obstacles facing access to crucial genetic counseling services, the last few years has seen the development of online genetic counseling platforms and services. Moving genetic counselors online has the potential to open up their specialist support services and knowledge to more and more families, who so desperately need their support.
Online genetic counseling removes location obstacles. Expert genetic counselors can be reached from anywhere in the world. All that is needed to access an online genetic counselor is a connected device, with video. This makes it much easier for genetic counselors and rare disease families to connect, regardless of where they are in the world. This in turn removes most, if not all, of the current obstacles facing rare disease families.
Genetic counseling is an essential service for rare disease patients and their families. Ensuring more families are able to access it, benefits everyone.
https://fdna.health/genetic-testingArticle source: http://articlebiz.com
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