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Many patients come to our adult genetics practice experiencing complex or unusual neurological signs and symptoms. These patients may have been diagnosed with a neuromuscular condition, neuropathy, neurodegenerative disorders, epilepsy or other disease, but something about it is abnormal. The symptoms may have progressed earlier or faster than expected, be resistant to standard treatment, or have occurred without the typical risk factors. In other cases, the patient has seemingly unrelated [...]

Cancer is a formidable adversary, affecting millions worldwide and causing profound physical, emotional and financial challenges. Understanding the genetic causes and foundations of cancer can empower individuals and families to make informed, proactive healthcare decisions. It can also open doors to personalized treatment options. In this blog post, we delve into how genetic testing and counseling can benefit cancer patients and families with a history of cancer.  Genetic Testing: A [...]

What is Genetic Counseling? Genetic counseling involves helping individuals and families to understand the implications of genetics on their health and family life. Genetic counselors work with patients to learn about their medical and family history (including looking for common red flags) and assess their risk for a genetic condition. From there, the counselor will help the patient decide whether to seek genetic testing. As specialized healthcare professionals, genetic counselors [...]

The Untapped Potential of Genetics in Healthcare The field of genetics has always been concentrated in academia and utilized for research. Even in clinical practice, genetics has largely remained within academic health centers. For years, genetic testing was simply too expensive to be standard for most patients.  Today, new technology has removed economic barriers, unlocking the potential for genetics to have a much larger reach and impact on patients. In [...]

Too often, patients with rare and inherited genetic disorders have a history of difficult healthcare experiences and fragmented medical records. With more than 5,000 known genetic disorders, these disorders manifest in many ways, across multiple systems in the body, necessitating a variety of specialists for treatment and management. Having an integrated care team can significantly improve these patients’ experiences and outcomes. From initial diagnosis to care across the lifetime, patients [...]

Adults with genetic disorders are a remarkable and growing population of patients. They are also underserved. Despite genetic testing being routine for many childhood-onset disorders, testing adults is not a standard practice. As a result, many adults are living with undiagnosed genetic diseases. Some are symptomatic with an inaccurate diagnosis, while many struggle to receive any diagnosis at all. Others may be asymptomatic (without symptoms) or pre-symptomatic (not having symptoms [...]