Acute lymphoblastic leukemia (ALL) is the most common form of childhood cancer, and it usually appears in children between the ages of 2 and 5 years old. However, it is possible for older children and teens to develop ALL. In fact, every year, roughly 400 teens between the ages of 15 and 19 are diagnosed with ALL. Like other cancers, acute lymphoblastic leukemia can make patients very sick, and its progression, without treatment, is rapid. But for families in Ireland who have been affected by this terrible disease, there’s new hope. And it comes in the form of CAR-T therapy. The life-saving procedure is now available at Children’s Health Ireland at Crumlin in Dublin.

What Is CAR-T Therapy?

During CAR-T cell therapy, doctors harvest healthy T-cells from the patient. T-cells are those white blood cells that are specially designed to fight off infection. Once collected, these cells are genetically modified and a chimeric antigen receptor is added. The modified cells are then re-introduced back into the patient, where they hunt down and kill cancerous cells by blasting them with lethal cytotoxins. The result is usually favorable for the patient who is battling this form of blood cancer.

While research is still taking place into cell therapy strategies, CAR-T for the treatment of blood cancers has proven very optimistic, especially for patients who haven’t responded well to other forms of treatment.

CAR-T Therapy in Ireland

While CAR-T cell therapy has been approved by the U.S. Food and Drug Administration to fight blood cancers since 2017, the treatment has only recently become available to families in Ireland. Before April of this year, these families had to travel to the UK or farther to access life-saving CAR-T cell therapy for their children.

Who Is a Good Candidate for CAR-T Therapy?

CAR-T therapy is currently reserved for patients with treatment-resistant cancers, who haven’t responded well to chemotherapy and/or medication. For many of these patients, modifying the existing white blood cells to fight the battle inside the body has shown positive results. And now children in Ireland have more opportunity than ever before to take advantage of this life-saving protocol without having to uproot and move to another country during one of the most traumatic times in their lives.

Cell Therapy and Its Relationship to Gene Editing

Cell therapy, at it’s core, involves modifying the body’s most basic elements. And along with gene editing, it holds great promise for individuals who are genetically predisposed to certain diseases, such as cancer, Tay-Sach’s Disease, or down syndrome. While cell therapy has been effective in improving the prognosis for patients with treatment-resistant cancers, gene editing will someday allow doctors to remove long segments of mutated DNA and replace them with healthy segments. The result could be eventual elimination of these disorders altogether.

You can read more about CAR-T cell therapy in the treatment of childhood acute lymphoblastic leukemia at Cancer Research UK. This includes who is eligible to receive CAR-T treatment in Ireland, where to go for treatment, and what to expect during the treatment period.

Some medical conditions, including serious infections of the brain such as encephalitis and meningitis, are difficult to diagnose. In fact, they’re often misdiagnosed. This is because the symptoms so closely mimic other illnesses. Many children have been sent home from the hospital with medication to treat ear infections, when the real culprit was much more sinister. In many situations, this leads to a poorer outcome for the patient because life-saving treatment was not administered in time. Fortunately, mNGS, or metagenomic next generation sequencing could be the solution.

What Is Metagenomic Next Generation Sequencing?

Though it’s a tongue twister to say, metagenomic next generation sequencing is easy to describe. In layman’s terms, it’s a method used by some laboratories to examine a single specimen for many, many contaminants. Generally, mNGS can effectively be performed on multiple types of samples, including:

• Cerebrospinal fluid
• Blood
• Ocular fluid
• Respiratory fluid
• Gastric fluid
• Stool
• Urine

In these specialized laboratories, a single patient sample can be tested for various microorganisms that cause disease, including parasites, viruses, bacteria, and fungi.

Why Isn’t Every Laboratory Using mNGS?

Unfortunately, mNGS has limitations today. In order for the process to work the way it’s intended, there must be existing, up-to-date databases, or libraries, with which to match the findings. Also, testing is so sensitive that the ways in which specimens are collected sometimes affect the outcomes. There must also be technology capable of interpreting the data. Lastly, this all costs money. In fact, a single mNGS test can cost upwards of $2,000.

What this means is that not every clinical laboratory is set up to perform mNGS. Still, the technique is revolutionary because it eliminates the need for cultures, serology, and other diagnostic methods, and it shortens the time needed to make a diagnosis, which could save a life.

What Are the Other Benefits of mNGS?

The benefits of mNGS are staggering. And once the technology catches up, mNGS will have far-reaching capabilities for many clinical laboratories. These include:

• Faster diagnosis for immunosuppressed patients with rare disorders
• Easier diagnosis for patients who can’t tolerate more invasive procedures
• Speedier and more accurate diagnosis of rare fungal infections
• More accurate testing with less required fluid sample
• Earlier detection of novel or emerging viruses

It’s easy for scientists to see where mNGS could lead, but the process is still somewhat in the earlier stages of its development. As a result, it still faces many challenges and suffers from many limitations.

How Could mNGS Benefit Me or My Loved One?

SARS-CoV-2 is a prime example of how mNGS benefits the average citizen. This illness, also known as COVID-19, first manifested as an unusually severe form of pneumonia in a cluster of patients in Wuhan, China. The rate at which it soon encompassed the world was unexpected and devastating. However, the expediency at which the virus was identified and a vaccine developed was largely due to next generation sequencing. Scientists used NGS to rapidly sequence the genetic samples and mNGS to identify the source. It happened like this:

• Doctors collected biologic samples from patients and submitted them for NGS testing
• Scientists extracted the DNA and RNA from the samples and purified them.
• Scientists then used different methods to separate and study the DNA and RNA.
• Results were compared to known data in genome banks.
• Suspect organisms were identified.

This is a very simplistic overview of what actually occurred. However, based upon the results, life-saving vaccines were able to be formulated in record time, and many lives were saved. And it was mostly due to mNGS and the scientists who stand behind it.