In a scientific presentation titled ‘It is not Rare, till you’re aware’, Dr Neha Rai, Chief Strategy Officer, Sandor Specialty Diagnostics gave detailed insights about genetics and the need to broaden the horizon while dealing with genetic issues. Edited Excerpts:
Sharing an anecdote from her childhood, Dr Neha Rai, Chief Strategy Officer, Sandor Specialty Diagnostics shared how people often simply fail to think of genetics when a diagnosis is made, which is often just the tip of the iceberg. The topic is considered like the poster child of future diagnostics but in reality it is not that common.
“What we see today in form of genetics is we only diagnose severe genetic and chromosomal abnormalities, but we don’t really look at hidden signs and symptoms which are on Intellectual disability, Dysmorphology, Delayed development milestones, Primary Infertility and Refractory Seizures. The reason that this is an iceberg of an issue is because the healthcare professionals really need to think about genetics as a cause. We simply fail to think of Genetics,” shared Dr. Rai. She added that whenever genetics is thought about by the diagnostics players, they think about buying Next Generation Sequencing Instruments and other such high CAPEX investments.
She stated that the most important thing in genetics is thinking smaller and simpler. More machines are not needed but what is needed is to equip our doctors and patients to think about genetics. She elaborated further on a typical pedigree map that is made by genetic counselors, just by talking to their families and understanding whether a particular trait or symptom is running in the family. “It is an extremely inexpensive method and all laboratories can equip themselves to be able to do genetics just by having a genetic counselor. It’s an extremely simple and much needed thing that we need to do in our healthcare industry. Not all hospitals, not all maternity centers have genetic counselors. So as laboratories, we could help these doctors and patients in identifying genetic disorders,” shared Dr. Rai.
She added that the diagnosis and the arrival at a result is a very tailor made approach. “Being able to correlate the clinical symptoms along with the genotype of the patient is the need of the hour, until we have a database robust enough where we could do this more in an automated fashion. The business model of Genetic diagnosis is of ‘Care continuum’ vs ‘Volume and Automation’.One thing that hallmarks our speciality segment is that the information asymmetry that exists between the doctors who are prescribers &the labs that are equipped to do these tests. Genetics is not part of the regular medical curriculum,” stated Dr. Rai.
Whenever we talk about genetics we only think about next generation sequencing (NGS). But there are a lot of genetic disorder that either can be diagnosed without an NGS or an NGS has to be coupled with these technologies to be able to give more confirmative diagnosis, prognosis and enable better treatment choices.As a company we have focused on inborn error of metabolism as a specialized segment in genetic disorders because a lot of these disorders are treatable, are manageable and there are children who can have a healthy or a near healthy life, even if they suffer from this disorder,” said Dr Rai.
She averred that simple steps towards closing the information gap and collaborating together to make these tests available and affordable is the way forward for growth.