Rare and undiagnosed diseases impose a substantial medical, financial, and psychosocial burden on patients and families. Patients may remain undiagnosed for many years and continue suffering with debilitating disease. On average, after the onset of symptoms, it takes at least seven years for rare diseases to get diagnosed in India, and in many cases, such diseases remain misdiagnosed.
This long search for a diagnosis is known as the ‘diagnostic odyssey’ and during this time, not only is it exceptionally stressful and costly for families, but the disease also often progresses beyond the ability to be treated. Rapidly evolving field of precision medicine offers a deeper understanding of human and disease biology using genomic and computational technologies. In rare diseases, this has resulted in improved outcomes by avoiding lengthy delays in diagnosis, unnecessary tests, or ineffective treatments. That is, if a patient can access it.
Also Read:
Marburg virus disease outbreak in Equatorial Guinea: What is it, what are the symptoms and treatment
WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. Countries define rare diseases in the context of their own populations, healthcare systems, and resources. Most developed countries have their own definition to facilitate policymaking, research and development. India is yet to formalize its definition.
Although rare individually, they are not rare in aggregate. It is estimated around 7% of the world’s population is affected by rare diseases. Around 80 percent of rare diseases are genetic in origin and therefore disproportionately affect children. Most of these diseases are attributed to a single defective gene. Because they are so rare, few physicians are trained to recognize them leading to poor diagnosis. Many rare disease patients and families undergo lengthy diagnostic odysseys involving multiple clinic visits, specialist consultations and tests. For such patients, a genetic result can signify an end of a diagnostic odyssey. Breakthroughs in genomic testing and sequencing technology can help shorten the diagnostic odyssey. A molecular diagnosis for a patient with genetic disease can provide information regarding a patient’s prognosis, management, and reproductive risk, and identify molecular targets for treatment.
Whole genome sequencing now has the power to help doctors diagnose genetic diseases more quickly, sometimes in only a few days. This prevents delays in treatment and can alter the course of diseases. For example, rare disease that are prevalent in India such as Sickle Cell Anemia and Pompe disease, if diagnosed early can be treated to prevent more serious complications such as delayed growth and damage to vital organs. This gives a better quality of life to the child and reduces the amount of carer time required.
Rare disease has an extraordinary advantage in precision medicine: genomic sequencing jumps many patients with rare diseases directly to the next phase of precision medicine—precision therapeutics—where addressing the root cause with a targeted therapy is the goal. Rare diseases have been given a reasonable purchase on hope with the advent of precision medicine. In fact, by simplifying some of the challenges within precision medicine, rare diseases have leapfrogged the rest of medicine in advancing practical applications of precision therapeutics, building infrastructure and processes for identifying targeted therapies that may ultimately benefit all patients.
It is difficult to quantify the overall impact to the health system on the early diagnosis and treatment of rare disease as India does not have a standard definition of rare diseases and therefore exact prevalence is difficult to estimate. However, in 2017 the approximate number of people in India suffering from rare disease was estimated to be around 72 to 96 million1 Therefore it is reasonable to estimate the savings could be in the billions.
From diagnosis to treatment, tools such as genomic biomarkers, imaging data, Artificial Intelligence, advanced and targeted therapeutics are poised to help clinicians’ personalized approach to each patient’s care. The field has evolved to recognise how the intersection of multi-omic data combined with medical history, social/behavioural determinants, and environmental knowledge precisely characterizes health states, disease states, and therapeutic options for affected individuals. But, unfortunately, less than one in 10 patients worldwide receives precision treatments even for recognised rare conditions that have one or more standardised treatment protocols3 A vast majority of Indians do not have specific targeted treatment, and patients often receive functional therapies to alleviate symptoms.4 Also, general awareness of and access to whole genome sequencing is lacking among many families affected by genetic diseases.
Along with healthcare professionals, advocates, insurers and policymakers, we are working to shorten the time to a definitive diagnosis – and an end to the diagnostic odyssey – for everyone. Because everyone deserves an answer.
—The author, Dr. Amol Zimur, is Head of Medical Affairs, Illumina Asia Pacific & Japan
(Edited by : C H Unnikrishnan)
Check out our in-depth Market Coverage, Business News & get real-time Stock Market Updates on CNBC-TV18. Also, Watch our channels CNBC-TV18, CNBC Awaaz and CNBC Bajar Live on-the-go!
Stampede-like situation disrupts Rahul Gandhi, Akhilesh Yadav's joint rally in Uttar Pradesh
May 19, 2024 4:26 PM
Ladakh Lok Sabha election: With Independent candidate's entry, it's now a 3-way contest for BJP and Congress
May 19, 2024 4:01 PM