A genetic counselor supports rare disease patients through a rare disease diagnosis.
What are the different roles of a genetic counselor?
The different roles of a genetic counselor include.
Educator
A genetic counselor is an educator who plays an important role in educating and informing rare disease patients and their families about the causes, and symptoms of rare diseases and syndromes.
There is a lack of awareness about rare diseases in general, and genetic counselors are instrumental in increasing this awareness both within families and the general public.
The more we know about the causes and symptoms of rare diseases, the greater the rate of accurate diagnosis and improved outcomes for patients. Genetic counselors play a key role in ensuring this.
Translator
Genetic counselors translate medical information relating to genetics and rare diseases into information and explanations that non-medical individuals can understand.
Genetic syndromes and their modes of inheritance are complicated and are not always easy for non-medical professionals to understand. Genetic counselors bridge this misunderstanding gap and bring clarity to a diagnosis and the long-term management and treatment of a rare disease.
Counselor
Providing emotional support is an important part of the role of a genetic counselor. A potential or confirmed rare disease diagnosis is incredibly difficult for both the patient and their family. A diagnosis can have long-term health implications that will have a tremendous impact on an entire family.
Alongside this crucial emotional support, genetic counselors can also connect rare disease patients and those who care for them, with a network of support groups for specific rare diseases and diagnoses. They can connect them with other families and patients with the same symptoms and diagnosis, and provide crucial support for what will be a lifelong condition.
Healthcare professional
Genetic counselors can recommend possible treatment options for individuals facing a potential or confirmed rare disease diagnosis. They understand what options are available, and may make recommendations based on the severity of an individual’s precise symptoms.
Genetic expert
Genetic counselors are highly trained and knowledgeable genetic experts, who can help patients throughout the genetic analysis, testing, and diagnosis processes.
They can explain to patients how rare diseases are inherited, and how a family history of a syndrome, might impact the genetic health of future children born into the same family. They can help parents-to-be understand the risks involved with their family planning, and what their options are to ensure the health of their unborn children.
Genetic counselors can help patients navigate the options for genetic analysis, testing, and screening, to identify a rare disease or rule it out. Based on a patient’s symptoms, and family history, they can recommend the most suitable testing options and prepare patients for the potential results of such testing.
Mediator
Genetic counselors bring together a multidisciplinary team of healthcare and medical professionals involved in the diagnosis, and long-term care, of a rare disease patient. They encourage both cooperation and communication between medical and support teams, and patients, and alongside their role as mediators, they also play the part of advocating for their patients. They ensure consistency and coordination of care.
What are the options for accessing a genetic counselor?
In-person appointment
In the past, the majority of genetic counselors have seen patients in an in-person capability, usually in a clinical setting. For rare disease patients, this in-person nature of genetic counseling has thrown up a lot of challenges in terms of logistics and access. Not every patient lives in an area with an extensive network of genetic counselors, and some patients face long journey times and extended wait terms to secure an appointment.
Online genetic counseling
In recent years genetic consultation has begun to move more and more online. Genetic counselors are now able to offer their vital services through telegenetics and virtual platforms, to reach more rare disease patients and ensure vital counseling services are accessible for more people.
The development of online genetic counseling has been instrumental in improving and increasing access to care. Genetic counselors can connect with patients from around the world, through a connected device, and offer support, education, and information that they have traditionally provided in a clinical setting.
This is providing patients with options for support and care, that are improving their chances of receiving an accurate diagnosis, and improved long-term care management as well.
Genetic counselors occupy essential roles in the lives of all rare disease patients- potential and confirmed- and their families. They are educators, counselors, genetic experts, and key support workers. Solutions that allow them to connect with more individuals are crucial in optimizing their roles within the field of rare disease diagnosis and education.
