People with rare undiagnosed conditions present challenges to doctors when they are attempting to understand the root causes of their patient’s health problems.

A recent article in Medical Xpress reports that a clinical examination of three elements is required to diagnose a genetic disease:

·      Physical examination

·      Family history (medical)

·      Laboratory and clinical testing (if available)

Primary care physicians are not always able to diagnose a genetic disease, yet these physicians are critical to collecting family histories, reviewing the potential of genetic diseases in a comparison (differential) diagnosis, ordering appropriate tests, and referring their patients to genetic specialists.

PI3K Delta Syndrome 2

Genomic testing will make it easier for doctors and patients to uncover the cause of disorders such as PI3K delta syndrome 2 (APDS2). Garvan Institute researchers were able to identify cellular irregularities underlying APDS2.

The disorder appears to be caused by genetic variations which disrupt immune cell signaling by way of the PI3K protein. According to the study, the immune system’s signaling should be firmly balanced in order to effectively respond to an infection.

The study was also instrumental in identifying the signals required to receive positive responses to vaccines.

P13K is crucial to activating immune cells for expansion, survival, function, and migration. The study revealed that genetic variations in APDS1 and APDS2 have similar impacts on PI3K signaling. However, their effects on the immune system differ. Both respond by increasing PI3K signaling yet their effect on certain cells and mechanisms results in different immune effects.

Furthermore, the study reveals the degree of fine-tuning the immune cell signaling should have. Even the most insignificant disruptions may cause immune deficiency or dysfunction.

A thorough understanding of the genetic disease mechanisms of these disorders will enable the development of early detection and new treatments for the prevention of the onset of a disease or to mitigate the severity of a disease.

Co-lead study author, Tina Nguyen M.D. commented that even without the two rare genetic conditions, certain genes may still impact these pathways. Mutations may be either inherited or they can be developed to combat environmental stresses, namely toxins or viruses.

The endpoint is to take this information and use it to cure, treat, or even prevent the development of disease.

If we know the genetic basis of a disease, patients get the best chance for its management or possibly a cure.

Now even heavier work begins with tracking responses to treatment and monitoring immune dysfunction and health to ensure the correct dosage using the correct drug given at the proper time.