Newborn Genetic Screening In India: Challenges & Opportunities

Rare diseases are more common than we think. Roughly 72 to 96 million people in India suffer from a rare condition at any given point in time. ¹ Almost 80% of these conditions have a genetic origin that targets young children ² and remain one of the leading causes of mortality in Newborn intensive care units (NICUs). ³ Moreover, the lack of adequate and timely newborn genetic screening in India leaves many young ones ailing with lifelong disabilities. ⁴ But, even with these alarming figures, India has still not found its way around rare genetic conditions,  making timely treatment and management a distant dream. 

This scenario raises an important question -  Is Newborn genetic screening mandatory for us to manage rare genetic conditions? If yes, then how relevant is it to the present Indian healthcare scenario? Let’s look into it in detail.

Relevance Of Newborn Genetic Screening In India

Rare genetic conditions are often associated with severe, chronic, and life-threatening complications. Without newborn genetic screening, these conditions may go undiagnosed or misdiagnosed, posing harm to the baby's health as well as their future.

Newborn genetic screening in India has not developed to its full potential due to a variety of reasons. This, in turn, has contributed to the increasing burden of rare genetic conditions in the country.

Present Scenario In India

Due to an ever-growing population and widely prevalent practice of consanguinity (Practice of marriage between individuals who are closely related), India is facing a 'rare' challenge -  Tackling the impact of rare genetic conditions.⁵

The country, like many other developing nations, has no adequate data on the prevalence and incidence of rare genetic conditions.¹

Adding to this challenge is the lack of awareness among those in the medical profession. The majority of healthcare professionals and clinicians don't have the necessary training to analyze a childhood-onset condition.¹ 

On average, it takes 2 to 3 misdiagnoses, 8 physicians, and between 5.6 to 7.6 years to arrive at a definite diagnosis for any rare condition.¹ This delay contributes to immense psychological, social, and financial stress on the parents. Moreover, if not diagnosed on time, many of these rare genetic conditions can even lead to the premature death of infants.⁶

UMMID Initiative: A Huge Step Forward

Rare genetic conditions have become a common public health concern for India ⁵, implying the need for effective and adequate genetic testing services. Taking this into account, in 2019, the Department of Biotechnology (DBT) launched the UMMID Initiative - The Unique Methods of Management and Treatment of Inherited Disorders.

The UMMID initiative, which translates into 'hope,' has three clear goals: ⁷

• Establish NIDAN (National Inherited Diseases Administration) Kendras across Govt. hospitals in the country that will provide services like counseling, prenatal testing, diagnosis, and management for rare genetic conditions.
• Raise awareness and skill among clinicians for human genetics.
• Launch screening programs and tests for inherited genetic conditions in areas with poor socio-economic conditions.

Designed on the concept of ‘Prevention is better than Cure,’ the UMMID initiative is a huge step forward to promote newborn genetic screening in India. 

GenomeScope: What Difference Do We Intend To Make?

Looking at the present scenario in India, LifeCell has introduced GenomeScope Newborn and GenomeScope NICU, a series of advanced genetic screening tests that provide information for changes in genes related to childhood-onset conditions in healthy as well as sick newborns. 

GenomeScope NICU is a diagnostic test that analyzes 6000+ genes to identify the genetic cause of unexplained symptoms in critically-ill infants below 24 months of age. Whereas the GenomeScope Newborn test is designed to collect data on 4000+ genes & analyze 954 clinically relevant genes detecting inherited genetic conditions in newborns even before symptoms manifest.

Both these tests use the NGS (Next Generation Sequencing) technology, delivering results with a detection rate of >95% and reporting accuracy of >99%. While not all conditions detected with these newborn genetic screening tests may have treatment, they can still be beneficial for:

• Healthcare providers to avoid unnecessary interventions and use a single test to provide a precise diagnosis, which saves the patient's time and reduces hospital costs.
• Parents to create a clear plan for future pregnancies and explore options like IVF with preimplantation genetic testing, finding a non-carrier sperm/egg donor, and adoption.

Thus, GenomeScope has the potential to not only expedite the diagnostic journey but also improves the quality of life.

LifeCell offers mandatory pre-test counseling as well as post-result genetic counseling to help you understand the results better. And based on the outcome of the test, a physician can guide you on the required line of treatment for your baby.

India, a melting pot of culturally and genetically diverse populations, is deeply burdened by rare genetic conditions. Lack of epidemiological data, lack of awareness among clinicians & the public, unavailability of advanced testing methods, and low access to affordable treatment are a few factors that contribute to the same. In such instances, genomics can be a big sigh of relief! Implementing newborn genetic testing at a national level can address this burden through faster and more accurate diagnoses. 

LifeCell's GenomeScope tests advocate the same idea by offering precise and timely diagnosis that can change the course of treatment in babies, paving the way for a better & prepared future!