It’s an all-too familiar story. A patient goes to a general practitioner, has a blood panel, receives a referral to a specialist and, yet, no answers.
Referred again to a few more doctors, put through a few more tests, it’s years later, maybe with diagnosis and maybe without.
All the while the patient is still struggling to find a treatment, a means to feel well and continued to live. This is the reality of treatment and diagnosis for most patients with rare and orphan diseases, but what if this years-long process could be eliminated?
According to the science of DNA sequencing, it can.
How Rapid DNA Sequencing Techniques Can Improve Rare Disease Diagnoses
Later and greater techniques in DNA sequencing continue to be made, providing answers to those patients whose rare diseases have gone undiagnosed for years in as little as a few hours. Recently a research effort led by Stanford scientists set the first Guinness World Record for the fastest DNA sequencing technique, which was used to sequence a human genome in just 5 hours and 2 minutes.
To read more about this rapid DNA sequencing technique, click here.
As research progresses, what’s evident is the sheer number of individuals and entities who can, and hopefully will, benefit from the process of DNA sequencing: an individual wanting to learn more about their ancestry, someone wanting create better diet and exercise plans for themselves, a person looking to identify genetic mutations, a pharmaceutical company looking to predict drug efficacy or adverse effects and, as we know, patients with the most rare, orphan and ultra-orphan diseases.
While the limiting factors, such as cost, keep DNA sequencing away from large scale adoption, many individuals in the rare disease community benefit from it to diagnose genetic disorders. In many cases, DNA sequencing is the only way to accurately diagnose an individual with a specific disease. Early genetic testing can speed up the process of diagnosis by years, and, in return, years of a patient’s life of can be saved by DNA sequencing. And then those individuals may begin therapy regimens and again have years of their lives saved.
The Future of Genetic Testing for Rare Disease Diagnoses
Knowing that DNA testing speeds up the time to diagnosis or is the only path to diagnoses, DNA sequencing and genetic testing will continue to grow in the healthcare space in general, but specifically, and likely sooner, in the rare disease space it will take even more precedence. Even more specifically, DNA sequencing will become the way toward diagnosis for those with congenital disorders.
At Optime Care, where patient-first care has and always will come first, we’re working to create awareness of the benefits of genome sequencing and genetic testing for our patients and for all patients with rare diseases.
DNA sequencing doubles down on personalized medicine, and so do we.
While there are still barriers due to time and expense, with the science available, we challenge you: continue to push for access to personalized medicine and greater care for our patients, first.