The roles of a genetic counselor are many and varied.
Their main role is to accompany rare disease individuals, and if relevant their families too, through the stages of a diagnosis of a rare disease. However, within this role, there are many specific ways in which a genetic counselor helps rare disease patients.
What are the different roles of a genetic counselor?
Collecting and interpreting vital information
Genetic counselors are instrumental in collecting the vital medical history, and family medical history of an individual, which might contribute to a more accurate diagnosis for their patient. This medical history may reveal patterns of inheritance specific to a rare genetic syndrome, or uncover a collection of symptoms unique to only a few, or even one genetic syndrome. Genetic counselors are able to place this information into the context of a rare disease diagnosis, in a way other medical professionals may not be able to do. This in turn increases the chances of a more accurate diagnosis.
Making sense of genetic analysis
For many patients, their genetic analysis may not be as insightful as they first hoped. One of the roles of genetic counselors is to transform the medical jargon and language of genetic analysis into something their patients can understand. This in turn empowers patients, in terms of their understanding of their potential condition. A genetic counselor will also be able to guide them through the next steps following their genetic analysis, including whether there is enough concern or risk to proceed with genetic testing or analysis.
Co-ordinating with medical professionals
Genetic counselors bring together all of the medical professionals involved in the care of a rare disease patient. This might include primary care doctors, geneticists, and other medical specialists, depending on the symptoms and rare diseases involved. Ensuring all of these professionals are on the same page is crucial in maximizing the care, a rare disease patient receives and will lead to the more successful long-term management of their condition.
Exploring genetic testing options
Based on everything they know about a patient, genetic counselors are able to fully educate patients about the options for genetic testing, based on their family history, initial genetic analysis report, and their presenting features and symptoms. Genetic counselors can prepare patients on the exact process involved in each type of genetic testing, and help them have a better understanding of the process and expected results at the same time.
Proving information on rare disease
Genetic counselors provide rare disease individuals with vital information on the possible rare diseases they may be facing. This genetic counseling includes the causes, and symptoms of each syndrome, as well as potential options for managing their care following a diagnosis. This information is crucial for patients and their families, not only in raising awareness but in providing them with the knowledge that will enable them to understand their own condition.
Support following a diagnosis
This role is a very significant one. It involves emotional and mental support, as well as support with connecting all of the relevant medical professionals as part of a multidisciplinary healthcare team which is necessary following the diagnosis of a rare disease. This also includes connecting patients’ networks of support and support groups. These groups play a large role in the lives of rare disease patients and families, in terms of advancing awareness and offering support and friendship.
How is the role of a genetic counselor changing, in the context of new technologies enabling direct-to-patient access to genetic analysis?
As increasing numbers of rare disease patients initiate their own genetic analysis and genetic diagnosis journeys through online analysis and diagnosis tools, the role of a genetic counselor is more important than ever. The advancement of direct-to-patient analysis places genetic counselors in higher demand.
This is because patients are increasingly leaving out other medical professionals as they access genetic analysis directly themselves. This means at more stages of the diagnosis process, they require the services of a genetic counselor, to help them navigate what is still very much a confusing process for many rare disease patients and their families. The need for support, information, and assistance throughout this process has not changed, even if the process itself has changed.
This advent of new genetic analysis and testing technologies, combined with the increasing growth of online genetic counseling options, means the role of a genetic counselor is as multi-faceted and important as ever.
