Discovery DNA
Uncovering Critical Answers to Combat Rare Diseases

Around 300 million people worldwide suffer from rare diseases, which prompt medical professionals to turn to genetic testing, as these ailments do not necessarily have an appropriate diagnosis or a precise course of medication. That said, genetic testing, too, does not guarantee definitive clinical outcomes, as medical professionals need to look at 20,000 plus genes through whole genome sequencing technologies. Further complicating the issue at hand is the accessibility to whole genome sequencing or even exome sequencing (a subset of the whole) technologies; completing such sequencing processes could take months or years in some cases, halting the development of diagnostic procedures for these critical health conditions. Addressing these fundamental prerequisites with biotechnological space, Discovery DNA presents rapid access to sequencing technologies and services while assuring data sovereignty over the results derived.

“We provide rapid access to diagnosis through our sequencing expertise for patients worldwide and go beyond conventional modalities to diagnose rare diseases,” says Dr. Aneal Khan, Founder, CEO, and Medical Director of Discovery DNA. The company’s expertise spans high-quality whole genome, exome, and mitochondrial DNA sequencing processes, all of which provide patients with timely access to testing. More importantly, Discovery DNA addresses a crucial requirement pertaining to ‘dynamic phenotyping’ that often goes unfulfilled in the biotechnological space.

‘Dynamic Phenotyping’ refers to the exchange of information between the lab and the clinic, which serves as a consistent source of feedback for all parties involved.

Conventionally, lab experts refer to just the prescribed notes from doctors without actually interacting with the patient, potentially causing a disconnect in the exchange of information. On the contrary, when patients go through Discovery DNA’s testing procedures, Dr. Khan interacts with the patients personally, providing them with detailedinformation on the type and prerequisites of diagnosis.
“Medical professionals often look at one gene that explains a certain disease in a person, but the reality is that humans are made up of 20000 plus genes. More often than not, it’s not just one gene affecting the health of an individual, and there might as well be a fundamental problem that goes undetected,” elaborates Dr. Khan. Discovery DNA offers a comprehensive analysis of a patient’s genetics rather than just looking for one principal answer. This back-and-forth exchange of information uncovers richer results than traditional modalities while also assuring the possibility for reanalysis on an annual basis, if the patient’s health condition changes over time.

The company undertakes custom projects that provide detailed answers to sequencing and DNA analysis for patients and offers it at a cost that is not burdensome to the people. The granularity of answers uncovered through these tried and tested methodologies showcase promising avenues to save and improve the lives of individuals worldwide. In an instance that highlights this proposition, Dr. Khan was consulted by a neurologist that sought his expertise in treating a baby undergoing seizures. Discovery DNA collected the cheek swab sample of the baby and, within 72 hours, detected a change in a gene for a sodium channel, thereby diagnosing the baby with Sodium Channel disease. Immediately upon diagnosis, the baby was administered phenytoin, which ultimately stopped the seizures, and the baby was discharged in just four days.

These clinical accomplishments are a testament to Discovery DNA’s expertise in opening up several avenues of diagnosis, previously inconceivable in the preliminary stages of care remediation. It provides patients and healthcare professionals with a more comprehensive and detailed perspective on rare diseases, helping them arrive at a relevant course of treatment quickly and with greater ease.