India Rare Disease Summit 2021
Emerging economies have shown success in addressing child health issues such as infections, malnutrition, and diarrhea. However, to further improve infant and child mortality rates, newborn screening should be adopted.
Hundreds of thousands of babies each year worldwide could avoid a lifetime of disability or even death with the implementation of screening tools. Unfortunately, not all families and their babies have access to the wide range of available tests. Also, of the 134 million babies born in the world each year, only about one third receive screening of any type, and many babies are only screened for one or two conditions.
PerkinElmer and the International Society for Newborn Screening (ISNS) have teamed up to host the India Rare Disease Summit on October 20, 2021. The virtual conference will include talks from newborn screening experts, international development organizations, The World Bank, and rare disease societies to discuss the implementation of the new Rare Disease Policy 2021.
Newborn babies can be screened for up to 70 potentially life-threatening disorders, but because of resource constraints, many countries such as India have been forced to make difficult choices as to which newborn health conditions they wish to prioritize.
Recently, the Indian Ministry of Health and Family Welfare has approved the National Rare Disease Policy 20211, which aims to screen and detect rare diseases early at early stages, which will help prevent death, increase education, and lower the high cost of treatment for rare diseases with increased focus on indigenous research with the help of a national consortium.
A comprehensive screening program should include, in addition to testing, other key components such as education, counseling, treatment, and follow-up; even if a country has the means to run a screening test, the rest of the program that provides support can fall short. Based on reports by subject experts and clinicians, 50 percent of new rare disease cases found in children are responsible for 35 percent of deaths before the age of 1 year. The normal life expectancy for kids with a rare disease is below 15 years if not screened within 48 hours of birth.2
The policy also talks about the creation of national hospital-based registry of rare diseases so that adequate diagnostic and symptomatic data can be available for research and development related to rare diseases within the country. The policy aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy encompassing awareness generation, premarital, post-marital, pre-conception, and post-conception screening, and counseling programs to prevent births of children with rare diseases.
PerkinElmer has been involved in newborn screening for over 30 years and is active in over 100 countries, and so are well placed to bring together this panel of experts from all over the world.