What is rare disease screening?

Rare disease screening is the process of determining and detecting rare diseases through different approaches and tests. They are conditions that affect a low percentage of public patients. The nature of rare diseases differs according to their causality as they may be genetic in nature, meaning that they are passed from parents to patients, or they may be happened by environmental forces. More than 7,000 rare diseases are discovered, and most of them are genetic.

What is the benefit of rare disease screening?

Rare disease screening is very important as early diagnosis followed by treatment can improve patient conditions. For example, many rare diseases can be controlled with medications or other therapies, and starting treatment early can be beneficial to prevent or reduce the effects of the disease.

There are many methods that can be used for rare disease screening, including:

Genetic testing: This includes analyzing the DNA of the patient to identify genetic mutations or changes that may be related to a rare disease. Genetic testing may be used for rare disease diagnosis, anticipate the risk of developing a rare disease, or detect if an individual is a carrier of a rare disease or not.

Physical examination: A physical examination can be used for rare disease screening by checking for signs and symptoms of the disease. For example, a physical examination can be used to determine physical abnormalities or other specifies that are related to a significant rare disease.

Biopsy: A biopsy is a process in which a sample of infected tissue is extracted from the body and tested to look for signs of a rare disease. This can be done through different methods, including taking the tissue specimen during surgery or using a special needle by a special healthcare provider to remove a sample of tissue.

There are other methods that can be used for rare disease screening such as:

X-ray: X-rays may be used for the detection and diagnosis of a number of rare diseases that affect the joints and bones, such as a brittle bone condition called (osteogenesis imperfecta), Ehlers-Danlos syndrome, and Marfan syndrome. The previously mentioned diseases often occur with abnormal bone structure or joint hyper-mobility, which can be easily examined by an X-ray. X-rays may also be used to track the improvement of these conditions and assess the effectiveness of treatments.

CT scan: CT scans consider to be a strong diagnostic tool that may be used for the detection and diagnosis of a high range of medical situations, including rare diseases. CT scans may be particularly useful in exploring abnormalities in the joints and bones, brain, lungs, and abdomen that can be related to certain rare diseases, but they should be used in association with other different tests to make sure of the diagnosis.

MRI: may be used to find any signs of a rare disease, like tumors or abnormal growths. Imaging tests may be used to track the progress of a rare disease and to check the effectiveness of medication.

Blood tests: can also be utilized for screening for rare diseases. Blood tests may be used to determine specific antibodies, proteins, or any markers that are related to a particular rare disease. The major advantage of Blood tests is that they are non-invasive and may be done easily and quickly, making them a valuable tool to screen rare diseases.

It’s clear that rare disease screening may be a provocation, as many rare diseases have similar signs and symptoms and can be difficult to diagnose. The problem is there is no specific screening test for every rare disease, and the test may not be widely available or affordable.

In those cases, it is a challenge for the genetic counselor and clinical geneticist to provide a differential diagnosis, education, and guidance for the patient and family. In many cases to diagnose a rare disease, a multidisciplinary approach including many specialists from different fields of medicine, like hematology, neurology, cardiology, and other specialists may be needed.

Rare Disease screening is considered to be an important tool for determining and managing these conditions. While there are many methods that may be used to screen rare diseases, such as imaging, genetic testing, biopsy, physical exams, and blood tests, they may not be affordable or available for everyone. Patient support programs (PSPs) may play a crucial role in providing financial aid and support to individuals who face obstacles to healthcare access and can help to ensure that patients have the resources they need to get the care and support they need to manage their health.