Our aim is to bring in high quality genetic testing in a phased manner


PerkinElmer Genetics, Inc., which provides a global genomic lab testing platform, will accelerate its high quality and affordable genomic services in India. This platform will complement newborn screening tests for genetic disorders and help address complex and rare inherited diseases. Dr. Madhuri Hegde, VP and Chief Scientific Officer for laboratory services of PerkinElmer’s Diagnostics business group, reveals more in an interaction

How is genome testing evolving in India?

Genome testing has evolved significantly in the last two decades. Since early 1990s many of the hospitals in India had only cytogenetic labs.  Even five years ago, labs in India only focused on certain diseases like thalassemia and Down syndrome. Now with more advanced technology, we are able to look at the entire genome at a reduced cost.

There is a misconception that genetic diseases are less common in India compared to the western world. With practice of consanguinity, the genetic pool is not spread out and genetic disorders are highly prevalent in our communities. It is also known now that a single gene can cause more than one disease or a single disease can be caused by many genes. We can now test all of the genes in one shot in a few weeks.

Five years back, whole genome sequencing cost thousands of dollars and took several months. The cost and turnaround time are now much lower.

Why is genomic newborn screening important for India?

Various conditions that may be present at birth, such as congenital hyperthyroidism, Phenylketonuria (PKU), and Galactosemia, can affect the health of a newborn. Early detection can prevent onset of the clinical condition and therefore serious lifelong disabilities can be avoided or minimised to enhance the probability that the child will grow and live a life without encumbrance from these newborn diseases.

In Western countries, newborn screening and the heel-prick test is part of basic healthcare when a baby is born, and is done for nearly every baby. This screening helps to identify potentially treatable or manageable inherited disorders within days of birth. Life-threatening health problems, mental retardation, serious lifelong disabilities and even death can be avoided or minimised if a condition is quickly identified and treated. In the US, states regulate their newborn screening programmes, so the number of screening tests performed varies from state to state, with some states screening for as many as 50 disorders.

Sequencing complements newborn screening, and sequencing technology has made a big leap for the sector as a whole. Previously, we used the Sanger sequencing (sequencing is the process of reading the nucleotides present in DNA or RNA molecules) but the technology has advanced. Now, a sample from the same tiny needle prick on a newborn’s heel used in newborn screening can also tell doctors most of what they need to know about a baby’s genes, including whether the newborn has a more serious condition not detected by a traditional newborn screening panel. Genomic testing also can target different diseases than the newborn screening panel. Together, newborn screening and genomic testing allow early intervention and help healthcare professionals and parents keep babies healthy.

With 26 million births per year, India can follow the same model for newborn screening together with sequencing.  While sequencing services are still developing in India, many in the private sector are showing interest in performing these tests.  It is absolutely necessary for India to implement these programmes cooperatively in the public and the private sectors to assure complete coverage.

Touching upon the test price for genetic testing for gene panels, exomes and genomes, it will be as per the market we operate, but the quality of the test will be never compromised.

What efforts have been taken by PerkinElmer to improve newborn screening in India?

PerkinElmer is the worldwide leader in newborn screening, with a global footprint reaching 150 countries. PerkinElmer has a long history of newborn screening and early detection of inherited disorders.

Now PerkinElmer can also perform high-throughput, next generation sequencing for rare inherited diseases in low cost and high quality accurate testing.  There are ~7,000 rare disorders associated with 5,300/22,000 genes in the human genome, of which about 3,500 are monogenic. Only ~1 per cent of those disorders (~50) are being screened even in advanced newborn screening programmes. This leaves 99 per cent of monogenic disorders unscreened.

Many babies with these unscreened disorders will present in the NICU as preterm birth babies or in the PICU for any number of symptoms, including “failure to thrive.”

PerkinElmer can screen for these monogenic disorders (among other things) using dry blood spot cards, whole blood or saliva to perform these highly-sensitive assays. Utmost care needs to be given for data interpretation and quality of the clinical report, as many physicians do not have formal training in genetics and have busy practices. The report needs to be succinctly written in a way that the physician can understand and upon which the physician may give advice on the next steps to the family.

We carry out broad spectrum genetic testing for all specialities in medicine at our clinical laboratory in Chennai. The tests are conducted for various disorders, be it kidney, eye, skin, or cardiomyopathy. We have already done 300 tests since our pilot launch in April and the initial disorder we dealt with is Duchenne Muscular Dystrophy (DMD). We are using a range of Illumina® sequencers including the latest NovaseqTM high-throughput sequencer. We participated in the newborn screening PPP programs in three states in India. We also spend a lot of time educating physicians on how genetic testing should be used and implemented, which test to conduct and when to order it.

We hope to support the central government’s formal genetic training as part of the MBBS curriculum.  The next generation of physicians should be trained in genetic testing, which will make a huge difference.

You have acquired Tulip Diagnostics. What is the reason behind this?

While PerkinElmer has extensive experience in, is deeply committed to newborn screening and sequencing services, we have a broader set of products and services.

PerkinElmer recently acquired Tulip Diagnostics to enhance that broader portfolio.  Tulip provides in-vitro diagnostic reagents, kits and instruments to diagnostic labs and government and private healthcare facilities. Tulip also manufactures products for prevention, screening and diagnosis of infectious diseases such as malaria, HIV and hepatitis.

With this acquisition, PerkinElmer aims to be a leader in diagnostics in India.

What would be the next five year plan of PerkinElmer for India?

Right now, we are concentrating on newborn screening, genetic testing including gene panels, clinical and whole exome and whole genome sequencing –  covering all specialities.

Beyond that, genetic testing and genome sequencing are evolving. As newer technology comes in we will continue to develop, assimilate and align our Chennai facility with emerging technologies.

Through our Chennai facility, our aim is to bring in high quality testing in a phased manner.  Sequencing tests to assist specialised treatments of conditions like cancer will be launched in India, probably by next year. Another key area is anti-microbial resistance (AMR). The data on AMR is evolving, and understanding clinical utility and how it will be implemented in patient care is important. We will evaluate AMR across the board and determine how to develop and implement testing to provide meaningful guidance to healthcare providers and parents.