Dr Shivani Sharma, Vice President, Pathology Services & Lab Director, CORE Diagnostics explains how genetic testing and counseling help people with neurological disorders
Genetic testing for neurological disorders is pacing up the neurology clinics day by day. With advances in genetic research and sequencing technologies expanding the horizon of neurological disorders, genetic testing has emerged as a vital tool in diagnosis, prognosis, and long-term disease management for patients.
What is genetic testing?
Genetic testing evaluates your genes for changes in the DNA for a specific set of conditions. Most neurological conditions are complex with overlapping symptoms, so genetic testing helps to conclude an accurate diagnosis. Multiple gene testing with the help of Next Generation Sequencing (NGS) technology has so far benefited patient care and risk segregation in family members. Genetic testing in neurology medicine can change the outlook of medical care in patients.
What is genetic counseling?
Genetic counseling is a patient-centric process designed to help people understand and adapt to the medical and psychological situation of having a genetic condition or being at risk and passing it in hereditament. Genetic counseling involves patients, family members, and trained medical professionals like geneticists/certified genetic counselors to go through diagnosis and medical management. Genetic counselors can help people understand their genetic test results, assess their risk of developing a genetic disorder, and make informed decisions about family planning, genetic testing, and other aspects of their healthcare.
What are neurological disorders?
Neurological disorders are a broad group of conditions that affect the nervous system, which includes the brain, spinal cord, and nerves. Neurological disorders can cause a wide range of symptoms, such as seizures, headaches, muscle weakness, vision problems, cognitive impairment, developmental delays, and much more. Most neurological conditions affect children, but even adults show symptoms later in life. Most neurological cases have an underlying genetic cause that needs to be identified immediately for treatment, risk assessment, and family planning.
How can genetic testing and counseling help people with neurological disorders?
Genetic counseling can help clinicians choose the correct test for a patient based on the various primary work and provisional diagnoses. Genetic testing for an affected individual can:
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Provide diagnosis/confirmation with the gene identified.
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Determine the prognosis for a particular neurological disorder.
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Guide long-term disease management
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Identify people at risk of developing a neurological disorder
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Help couples to decide upon family planning
Genetic counselors provide prolonged support to help them practice a positive approach toward the healing process and connect them with support groups to improve their mental health and quality of life.
Statistics on genetic testing and counseling for neurological disorders
According to a study published in The Neurology Journal in 2021, genetic testing is becoming a more common tool to diagnose and manage neurological conditions than ever before. The study reveals that the number of genetic tests ordered for neurological conditions has increased by 120 per cent between the years 2012 and 2017. A study published in Genetics in Medicine in 2022 indicates genetic counseling is becoming common for people with neurological disorders. The study shows that 35 per cent of people with a neurological disorder had received genetic counseling in the past year, which shows the significant importance of counseling in patient management.
Benefits of genetic testing and counseling for neurological disorders
Genetic testing makes accurate diagnoses, empowering clinicians to proceed with treatment type. The patient gets a clear picture of genetic risk associated with personal condition and acceptance. Genetic counselors help families understand the results and at-risk family members, if any. Genetic counseling in neurological conditions helps parents to understand the disease in their child and prepare them to tackle the child, focusing on the long-term mental well-being, family dynamics, and economic trammel.
Challenges of genetic testing and counseling for neurological disorders
Genetic testing in India is expensive and not reimbursed by insurance providers, resulting in patients paying out of pocket. Some conditions are rare and require screening of multiple family members, incurring economic burnout. As neurological conditions are complex, the reports are equally challenging to understand without expert opinion.
Genetic counseling can also be challenging for some people. For example, people are concerned about the emotional outburst of genetic testing results or the possibility of social discrimination.
Conclusion
Genetic testing and counseling are of paramount importance for people with neurogenetic conditions. Genetic testing can change the approach to disease management in patients, while counseling helps families to sail through the entire process. With significant access to technology and cost-effective sequencing options, there is a paradigm shift in treatment and drug discovery in neurogenetic conditions.