MedGenome launches campaign to promote early detection of rare diseases

MedGenome launched its campaign, #CarefortheRare, ahead of Rare Disease Day. The campaign was unveiled with a documentary aimed at highlighting the critical role of genomic testing in the early detection and management of rare diseases. The campaign highlights the profound impact of undiagnosed inherited diseases on patients and honours families caring for those affected by rare conditions. Over the last decade, significant scientific innovations and technology integration have made advanced diagnostic tools such as genetic testing widely available, impacting the complex disease diagnosis and management landscape.

According to Dr Ann Agnes Mathew, Consultant Pediatric Neurologist and Neuromuscular Specialist who led this case, “Mitochondrial disease was once considered a death sentence. This condition causes mitochondria in cells to lose function, leading to decreased energy production, resulting in muscle weakness, neurological issues, developmental delays, and organ dysfunction. The severity of the disease varies from person to person and can worsen over time. Without genetic testing there was no way to identify this disease and traditionally, there was no cure, with treatment focused on managing symptoms and supporting the affected areas of the body. However, recent research has shown that a ketogenic diet may offer significant benefits in managing the disease. While following this diet is a long and challenging process, the results have been promising. I commend the family and child who have committed to this strict regimen and have seen encouraging improvements.”

Dr Vedam Ramprasad, CEO, MedGenome states, “Identifying the genetic basis of a disease in a patient allows us to take action in two key ways; First, we can provide an accurate diagnosis, bringing an end to the diagnostic odyssey that many patients endured just a few years ago. Second, genomics has transformed how we manage the disease, prevent its occurrence in other family members, and predict its progression, fundamentally improving patient care.”

He further adds, “Having a rare disease patient in a family not only affects the patient’s health but also places a significant economic burden on the family. Early detection, carrier screening, and genetic counseling are crucial tools in preventing or managing these diseases more effectively, especially in populations with a high disease burden.”

MedGenome’s campaign, #CarefortheRare aims to bring attention to the challenges faced by families living with rare diseases, while fostering greater understanding and support for their journey. Advancements in the field of omics, genomic sequencing techniques such as next-generation sequencing (NGS) and the integration of AI for healthcare analytics are making faster, more comprehensive, and cost-effective solutions more accessible to a broader population. As a result, individuals can receive quicker diagnosis and benefit from better-informed treatment decisions.